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Fahr disease is an uncommon disorder defined as prominent calcification in basal ganglia, dentate nuclei of cerebellum, pulvinar thalami and subcortical white matter and it has been shown that calcium is the major factor that causes the hyperdensity on computer tomography (CT). Spontaneous subarachnoid hemorrhage from an aneurysm in a patient with Fahr disease was first reported by Al-Jehani et al. in 2012 in a 54-year-old female patient with calcification of basal ganglia and deep cerebellar nuclei and a subarachnoid hemorrhage from a right posterior communicating artery aneurysm. We present a 17 years old patient with Fahr disease with an anterior communicating artery aneurysm rupture. There are few reports of intracranial hemorrhage with Fahr's disease. It may be suggested that excessive calcium accumulation contributes to aneurysm formation or rupture. [ABSTRACT FROM AUTHOR]

Objective: To retrospectively analyze CT and MR imaging features of the brain in patients with hydrogen sulfide poisoning based on clinical symptom grading and to investigate their correlations with clinical symptoms and patients' prognosis.Methods: A retrospective analysis was performed of CT and MR imaging data of the brain in 40 patients with hydrogen sulfide poisoning in our hospital. There were four main imaging manifestations. Patients were clinically graded according to the central nervous system symptom scores of the Poisoning Severity Score (PSS) and staged according to the gas inhalation time segment. Based on clinical symptom grading, the frequencies and proportions of four imaging signs that occurred in each group were counted, their development trends were analyzed, and the correlations of imaging features with clinical grading and prognosis were calculated.Results: Forty patients were divided into minor, moderate and severe clinical grades and classified into four stages. In patients with minor and moderate clinical grading, only one patient suffered from generalized brain edema at stage 1, with a good prognosis. Patients with severe clinical grade showed the highest probability of presenting with the four imaging signs. The imaging signs were correlated with the severe clinical grade and a poor prognosis (P = 0.000, R = 0.828; P = 0.000, R = 0.858).Conclusion: In patients with the severe clinical grade, generalized brain edema and symmetrical hypodensity/abnormal signals in the bilateral basal ganglia and around the lateral ventricles were the main findings and were shown to persist. The presence of imaging signs can assist in the clinically effective evaluation of clinical symptom grade. [ABSTRACT FROM AUTHOR]

The article presents a case study of a 70-year-old female with cognitive function and gait being disturbed. Topics include findings of these examinations were considered to be compatible with AD, and the same pharmacotherapy being continued; and small amounts of calcification seen in the putamen, globus pallidus, and dentate nucleus.

Background: Leigh syndrome (LS) is a progressive neurodegenerative mitochondrial disease characterized by necrotizing lesions affecting different parts of the central nervous system, especially in the brainstem and basal ganglia. Lesions in this area may involve respiratory and sleep centers, resulting in the clinically significant disturbances seen-but poorly characterized-in LS. The purpose of the present study is to characterize and compare the physiologic responses to respiratory disturbances quantified by polysomnography metrics of children with LS with age-sex- and apnea-hypopnea index (AHI)-matched patients with obstructive sleep apnea (OSA), a common clinical population with similar burden of sleep-disordered breathing.Methods: Retrospective comparative study of polysomnographic data from six patients with LS were reviewed and compared with 18 age-sex-AHI-matched patients with OSA, with particular attention to cardiorespiratory and sleep architecture metrics.Results: Sleep architecture and stage duration were conserved in LS and OSA groups, but increased wake after sleep onset was seen among the first group. The LS group exhibited both obstructive and central sleep apnea. The group also had significantly greater values of heart rate, ≥3% oxygen desaturation index, and lower values of sleep efficiency, respiratory arousal index, and total sleep time when compared with the OSA group.Conclusions: Patients with LS exhibited significantly more sleep-related cardiorespiratory disturbances and sleep fragmentation when compared with neurotypical children with OSA. Given that these findings are plausibly detrimental to health and development, sleep evaluation in patients with similar conditions should be encouraged for early management. [ABSTRACT FROM AUTHOR]

BACKGROUND : Patients with functional constipation (FCon) have been reported with brain functional and structural abnormalities. However, no studies have been performed to investigate the differences in resting-state networks (RSNs) and changes in functional connectivity (FC) between RSNs in patients with FCon. Thus, the current study aimed to identify abnormal FC within and interaction between RSNs in patients with FCon to reveal the underlying neural mechanism.Methods: Functional MRI with independent component analysis was applied to investigate alterations in FC within and functional network connectivity (FNC) between RSNs including default mode- (DMN), basal ganglia- (BGN), salience- (SN), and left and right control executive-networks (LCEN/RCEN) in 39 female patients with FCon and 36 female healthy controls (HC). Patient Assessment of Constipation Quality of Life Scale (PAC-QOL) and Patient Assessment of Constipation Symptom Scale (PAC-SYM) were used to assess the constipation symptoms.Results: FCon patients had changed regional FC between different networks contributing to the abnormal FNC among RSNs compared with HC. Patients with greater stool syndromes had increased FNC of BGN-SN and DMN-LCEN, and patients with greater worries/concerns and PAC-QOL total score had reduced FNC of SN-RCEN. The greater strength changes in FC in prefrontal and parietal cortices were associated with higher negative emotion scores and greater rectal symptoms, respectively.Conclusion: The findings suggested that FCon patients had altered FC within and interactions between RSNs and the brain FC changes were associated with constipation symptoms and altered emotions. [ABSTRACT FROM AUTHOR]

Objective: Fatigue is among the most common complaints in community-dwelling older adults, yet its etiology is poorly understood. Based on models implicating frontostriatal pathways in fatigue pathogenesis, we hypothesized that smaller basal ganglia volume would be associated with higher levels of subjective fatigue and reduced set-shifting in middle-aged and older adults without dementia or other neurologic conditions. Methods: Forty-eight non-demented middle-aged and older adults (M age = 68.1, SD = 9.4; M MMSE = 27.3, SD = 1.9) completed the Fatigue Symptom Inventory, set-shifting measures, and structural MRI as part of a clinical evaluation for subjective cognitive complaints. Associations were examined cross-sectionally. Results: Linear regression analyses showed that smaller normalized basal ganglia volumes were associated with more severe fatigue (β = −.29, P =.041) and poorer Trail Making Test B-A (TMT B-A) performance (β =.30, P =.033) controlling for depression, sleep quality, vascular risk factors, and global cognitive status. Putamen emerged as a key structure linked with both fatigue (r = −.43, P =.003) and TMT B-A (β =.35, P =.021). The link between total basal ganglia volume and reduced TMT B-A was particularly strong in clinically fatigued patients. Conclusion: This study is among the first to show that reduced basal ganglia volume is an important neurostructural correlate of subjective fatigue in physically able middle-aged and older adults without neurological conditions. Findings suggest that fatigue and rapid set-shifting deficits may share common neural underpinnings involving the basal ganglia, and provide a framework for studying the neuropathogenesis and treatment of subjective fatigue. [ABSTRACT FROM AUTHOR]

Multiple sclerosis (MS) is a chronic inflammatory disease of the central nervous system that is rare in China. At present, there are no widespread quantitative imaging markers associated with disease severity in MS. Despite several previous studies reporting cerebral blood flow (CBF) changes in MS, no consensus has been reached. In this study, we enrolled 30 Eastern MS patients to investigate CBF changes in different brain regions using the arterial spin labeling technique and their relationship with disease severity. The average CBF in MS patients were higher than those in health controls in various brain regions except cerebellum. The results indicated that MS patients with strongly increased CBF showed worse disease severity, including higher Expanded Disability Status Scale (EDSS) scores and serum neurofilament light chain (sNfL) values than those with mildly increased CBF in the parietal lobes, temporal lobes, basal ganglia, and damaged white matter (DWM). From another perspective, MS patients with worse disease severity (higher EDSS score and sNfL values, longer disease duration) showed increased CBF in parietal lobes, temporal lobes, basal ganglia, normal-appearing white matter (NAWM), and DWM. Correlation analysis showed that there was a strong association among CBF, EDSS score and sNfL. MS patients with strongly increased CBF in various brain regions had more ratio in relapsing phase than patients with mildly increased CBF. And relapsing patients showed significantly higher CBF in some regions (temporal lobes, left basal ganglia, right NAWM) compared to remitting patients. In addition, MS patients with cognitive impairment had higher CBF than those without cognitive impairment in the right parietal lobe and NAWM. However, there were no significant differences in CBF between MS patients with and without other neurologic dysfunctions (e.g., motor impairment, visual disturbance, sensory dysfunction). These findings expand our understanding of CBF in MS and imply that CBF could be a potential quantitative imaging marker associated with disease severity. [ABSTRACT FROM AUTHOR]

Biotin-thiamine-responsive basal ganglia disease (BTBGD) is a treatable neurometabolic disease caused by variants in SLC19A3. Typical imaging features include symmetrical involvement of the caudate nuclei and putamina. The study sought to explore classical BTBGD without caudate nucleus involvement, to highlight the importance of recognizing this new pattern early in the disease. Individuals with genetically confirmed BTBGD who harbored the same homozygous variant: NM_025243.4 (SLC19A3): c.1264A > G (p.Thr422Ala) and had atypical neuroimaging were recruited. Nine patients with BTBGD had atypical neuroimaging findings on the first MRI scan. The median age at symptom onset was 3 years. All patients presented with classical clinical features of subacute encephalopathy, dystonia, ataxia, and seizures. During the acute crisis, MRI revealed bilateral and symmetric involvement of the putamina in all patients; one showed small caudate nuclei involvement. In addition, the thalami, cerebellum, and brain stem were involved in six patients, seven patients, and three patients, respectively. Treatment included a combination of high doses of thiamine and biotin. One patient died; he did not receive any vitamin supplementation. Two patients who were treated late had severe neurological sequelae, including generalized dystonia and quadriplegia. Six patients treated early had good outcomes with minimal sequelae, including mild dystonia and dysarthria. Two patients showed the classical chronic atrophic and necrotic changes already described. The early atypical neuroimaging pattern of BTBGD described here, particularly the lack of caudate nucleus involvement, should not dissuade the clinician and radiologist from considering a diagnosis of BTBGD. [ABSTRACT FROM AUTHOR]

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(1) Objective: to investigate the association between the total burden of cerebral small vessel disease (CSVD) and cognitive function in Parkinson's disease (PD). (2) Methods: this retrospective study compared clinical and neuroimaging characteristics of 122 PD patients to determine the association between cognitive decline and total burden of CSVD in PD. All patients underwent brain MRI examinations, and their total CSVD burden scores were evaluated by silent lacunar infarction (SLI), cerebral microbleeds (CMB), white matter hyperintensities (WMH), and enlarged perivascular spaces (EPVS). The cognitive function was assessed by administering Mini-Mental State Examination (MMSE). Receiver-operating characteristic (ROC) curve and the area under the ROC curve (AUC) were performed to quantify the accuracy of the total burden of CSVD and PVH in discriminating PD patients with or without cognitive impairment. (3) Results: the PD patients with cognitive impairment had a significantly higher SLI, CMB, periventricular hyperintensities (PVH), deep white matter hyperintensities (DWMH), enlarged perivascular spaces of basal ganglia (BG-EPVS), and the total CSVD score compared with no cognitive impairment. Total CSVD score and MMSE had a significant negative correlation (r = −0. 483). Furthermore, total burden of CSVD and PVH were the independent risk factors of cognitive impairment in PD, and their good accuracy in discriminating PD patients with cognitive impairment from those with no cognitive impairment was confirmed by the results of ROC curves. (4) Conclusions: total burden of CSVD tightly linked to cognitive impairment in PD patients. The total burden of CSVD or PVH may predict the cognitive impairment in PD. [ABSTRACT FROM AUTHOR]

Gait dysfunctions are debilitating motor symptoms of Parkinson's disease (PD) and may result in frequent falling with health complications. The contribution of the motor-cognitive network to gait disturbance can be studied more thoroughly by challenging motor-cognitive dual-task gait performances. Gait is a complex motor task that requires an appropriate contribution from motor and cognitive networks, reflected in frequency modulations among several cortical and subcortical networks. Electrophysiological recordings by scalp electroencephalography and implanted deep brain stimulation (DBS) electrodes have unveiled modulations of specific oscillatory patterns in the cortical-subcortical circuits in PD. In this review, we summarize oscillatory contributions of the cortical, basal ganglia, mesencephalic locomotor, and cerebellar regions during gait and dual-task activities in PD. We detail the involvement of the cognitive network in dual-task settings and compare how abnormal oscillations in the specific frequency bands in the cortical and subcortical regions correlate with gait deficits in PD, particularly freezing of gait (FOG). We suggest that altered neural oscillations in different frequencies can cause derangements in broader brain networks, so neuromodulation and pharmacological therapies should be considered to normalize those network oscillations to improve challenged gait and dual-task motor functions in PD. Specifically, the theta and beta bands in premotor cortical areas, subthalamic nucleus, as well as alpha band activity in the brainstem prepontine nucleus, modulate under clinically effective levodopa and DBS therapies, improving gait and dual-task performance in PD with FOG, compared to PD without FOG and age-matched healthy control groups. [ABSTRACT FROM AUTHOR]

Purpose: Excessive brain iron depositions were found in both patients with Parkinson's disease (PD) and those with type 2 diabetes mellitus (T2DM). The present study aimed to explore iron deposition and heterogeneity in the extrapyramidal system in PD patients with T2DM using quantitative susceptibility mapping (QSM) and further to reveal the effect of T2DM on the changes in brain iron in patients with PD. Materials and methods: A total of 38 PD patients with T2DM (PDDM), 30 PD patients without T2DM (PDND), and 20 asymptomatic control subjects (CSs) were recruited for this study. All subjects underwent multiple MRI sequences involving enhanced gradient echo T2 star weighted angiography (ESWAN). The magnetic sensitivity values (MSV) and volume of the whole nuclei (MSVW, VW) and high iron region (MSVRII, VRII) were measured on the bilateral caudate nucleus (CN), the putamen (PUT), the globus pallidus (GP), the substantia nigra (SN), the red nucleus (RN) and the dentate nucleus (DN). Clinical and laboratory data were recorded, especially for the Hoehn and Yahr (H-Y) stage, the Montreal Cognitive Assessment (MoCA), the Mini-Mental State Examination (MMSE), the Hamilton Depression Rating Scale (HAMD), and the Hamilton Anxiety Rating Scale (HAMA). All QSM data were compared between PDDM and PDND groups and correlated with clinical and laboratory data. Results: Compared to the PDND group, the VRII=VW of the left CN was significantly increased in the PDDM group. Significantly higher MSVW and MSVRII were also found in the PDDM group, including bilateral SN of MSVW, right PUT, and bilateral CN, GP, and SN of MSVRII. The H-Y stage of the PDDM group was significantly higher than that of the PDND group. The MSVRII of bilateral RN of the PDDM group was positively correlated with the HAMA scores. HDL, DBP, and SBP levels were associated with MSVRII of right CN in the PDDM group. Conclusion: T2DM could aggravate the disease severity and anxiety in patients with PD. The iron distribution of deep gray matter nuclei in PD patients with T2DM was significantly heterogeneous, which was related to blood pressure and blood lipids. [ABSTRACT FROM AUTHOR]

Objective: Evaluate the long-term improvement and safety of aripiprazole in treating irritability in Asian children and adolescents (6-17 years) with autistic disorder. Methods: A 52-week, open-label, flexibly dosed (2-15 mg/day) study on the improvement and safety of aripiprazole in patients with autistic disorder who had completed an antecedent 12-week open-label study. The evaluation of efficacy was conducted using the Aberrant Behavior Checklist (ABC), Clinical Global Impression (CGI) scale, Child Yale-Brown Obsessive-Compulsive Scale (CY-BOCS), Vineland Adaptive Behavior Scale (VABS), and the Parenting Stress Index-Short Form (PSI-SF). Safety and tolerability measurements included adverse events, vital signs, electrocardiography, laboratory tests, body weight, and extrapyramidal symptoms (EPSs). Results: During the 52-week treatment, all effectiveness variables, including ABC, CGI, CY-BOCS, VABS, and PSI-SF scores, showed improvement. Regarding safety, the proportion of patients who experienced any treatment-emergent adverse events (TEAEs) was 58.62% (34/58 subjects, 75 cases). The most common TEAE was nasopharyngitis reported in 20.69% (15/58 subjects, 15 cases) and the other TEAE with an incidence of ≥10% was weight increases in 18.97% (11/58 subjects, 11 cases). Of them, 27.59% (16/58 subjects, 28 cases) experienced adverse drug reactions (ADRs). The most common ADR was weight increase reported in 15.52% (9/58 subjects, nine cases). The incidence of serious adverse events (SAEs) was 5.17% (3/58 subjects, three cases), which were epiphysiolysis, seizure, and a suicide attempt, but these were not ADRs. There were no clinically significant changes found in the evaluation of EPSs. Conclusions: Aripiprazole showed improvement for behavioral problems and adaptive functioning and was well tolerated in patients with autistic disorder until nearly a year after drug use. The Clinical Trial Registration number: NCT02069977. [ABSTRACT FROM AUTHOR]

Primary familial brain calcification (PFBC) is a genetic neurological disease, yet no effective treatment is currently available. Here, we identified five novel intronic variants in SLC20A2 gene from six PFBC families. Three of these variants increased aberrant SLC20A2 pre-mRNA splicing by altering the binding affinity of splicing machineries to newly characterized cryptic exons, ultimately causing premature termination of SLC20A2 translation. Inhibiting the cryptic-exon incorporation with splice-switching ASOs increased the expression levels of functional SLC20A2 in cells carrying SLC20A2 mutations. Moreover, by knocking in a humanized SLC20A2 intron 2 sequence carrying a PFBC-associated intronic variant, the SLC20A2-KI mice exhibited increased inorganic phosphate (Pi) levels in cerebrospinal fluid (CSF) and progressive brain calcification. Intracerebroventricular administration of ASOs to these SLC20A2-KI mice reduced CSF Pi levels and suppressed brain calcification. Together, our findings expand the genetic etiology of PFBC and demonstrate ASO-mediated splice modulation as a potential therapy for PFBC patients with SLC20A2 haploinsufficiency., Competing Interests: Declaration of interests W.-J.C., Z.-Q.X., X.C., M.Z., Y.-H.Z., and L.C. have filed patents (CN2023113708968) to protect the application of CRACE therapy for the treatment of brain calcification., (Copyright © 2024 Elsevier Inc. All rights reserved.)

Background: Woodhouse-Sakati Syndrome (WSS) is a rare autosomal recessive condition caused by biallelic pathogenic variants in the DCAF17 gene, with fewer than 200 cases reported in the literature. Symptoms first emerge in middle-late adolescence with a spectrum of hypogonadal and progressive neurological features., Case Presentation: We present a case of WSS with no reportable T 2 -weighted, apparent diffusion coefficient mapping and susceptibility weighted MRI findings. This differs from cases reported in the current literature. Our patient developed abnormal movements in both legs, clumsiness of the hands, dysarthria, and swallowing difficulties. Moreover, she presented with alopecia manifesting as frontal and temporal balding, severe dystonia with painful dystonic spasms primarily in the left upper limb, as well as primary amenorrhea. She was not independently ambulatory on presentation, requiring wheelchair assistance. Genetic testing, the crucial test for a definitive diagnosis, was undertaken in Qatar and confirmed WSS. Treatment provided includes botulinum toxin injections and deep brain stimulation, providing better dystonia control, with progress in walking and strength exercises, and overall remarkable improvement. Intensive neurorehabilitation regimes were also deployed from admission, including physiotherapy, occupational therapy and speech and language therapy., Conclusion: This case adds to the current literature on WSS manifestations, with all previously reported cases having positive MRI findings, unlike our case., (© 2024. The Author(s).)

Introduction: Fahr's Disease, also known as Fahr's Syndrome, is a rare genetically dominant disease, characterized by the abnormal accumulation of calcium deposits, or calcifications, in various areas of the brain, particularly the basal ganglia. These calcifications, which are typically bilateral and symmetrical, can lead to a wide range of neurological and psychiatric symptoms, making diagnosis and management challenging. It usually manifests between the ages of 40 and 60, primarily after the age of 30. Objectives: To contribute to the medical literature by sharing this rare case, thereby increasing awareness and knowledge about Fahr's Disease among healthcare professionals. Methods: Non systematic review of the literature and access to the medical history of the patient. Results: We present a case of a 42 year old woman, who came to our hospital with behavior changes, with increasing confusion and new mystical beliefs, insomnia and agitation. According to the patient's husband, the patient sounded confused and inappropriate in her speech. The patient was admitted for evaluation of altered mental status. The patient was alert and oriented to person, place, time, and situation in the emergency department, with shudder while neurologically intact. The patient was unpolite, agitated. Psychiatry was consulted for evaluation. We decided to admit the patient and did a posterior study with a CT scan and MRI. The MRI, as well as CT scan revealed "dense calcification of the dentate nuclei and the basal ganglia", highly suggestive of Fahr's syndrome. The patient's phosphorus level was 3.5 mg/dl (normal level: 2.5-4.5 mg/dl). Parathyroid hormone (PTH) intact was 53 pg/ml (normal level: 15-65 pg/ml), and calcium level was 10,3 mg/dl (normal level: 8.4-10.5 mg/dl). The vitamin D 25-hydroxy concentration was 43,5 ng/ml (normal level: 30-60 ng/ml). Conclusions: In conclusion, Fahr's Disease is a rare and complex neurological disorder characterized by idiopathic calcification of the bilateral basal ganglia, resulting in a diverse range of neurological and psychiatric symptoms. Diagnosis involves clinical evaluation and neuroimaging, while treatment is primarily symptomatic. Further research is needed to better understand the underlying genetic and biochemical mechanisms driving calcification in the brain and to develop more effective therapeutic strategies for this challenging condition. Disclosure of Interest: None Declared [ABSTRACT FROM AUTHOR]

Background: Reduced dopamine transporter (DAT) binding in the striatum has been reported in patients with progressive supranuclear palsy (PSP). However, the relationship between striatal dopaminergic lesions and the disease severity of PSP remains to be explored. Objective: To investigate the contributions of striatal dopaminergic lesions to the disease severity of PSP. Methods: One hundred patients with clinically diagnosed PSP were consecutively enrolled in this study. The disease severity was systemically assessed using the PSP rating scale (PSPrs), and the dopaminergic lesions were assessed using the 11C-N-2-carbomethoxy-3-(4-fluorophenyl)-tropane positron emission tomography (11C-CFT PET) imaging. To explore the correlations between striatal DAT bindings and the disease severity, both the region-wise and voxel-wise analysis were adopted. Partial correlations and multiple linear regressions were performed to investigate the contribution of striatal dopaminergic lesions to the disease severity in PSP. Results: Sixty-three patients of PSP with Richardson's syndrome (PSP-RS) and 37 patients with PSP-non-RS were finally included. The disease severity in PSP-RS was much heavier than that in the PSP-non-RS. The DAT bindings in the caudate and anterior putamen correlated significantly with the PSPrs total scores, mainly in the domains of history, mentation, bulbar, and ocular motor symptoms. The striatal DAT bindings (caudate) contributed significantly to the disease severity of PSP, independent of the motor, cognition, emotion and behavioral dysfunctions. Conclusion: Our study highlighted the independent contribution of striatal dopaminergic lesions to the disease severity in PSP. [ABSTRACT FROM AUTHOR]

Objective:Freezing of gait (FOG) is one of common and disabling gait impairments of Parkinson's disease (PD). White matter hyperintensity (WMH) and lacunes, as common manifestations of cerebral small vessel diseases (CSVD), have been reported to be associated with gait function in PD patients. However, in the cases with FOG which present with extensiveWMH or lacunes, it actually is diffcult to distinguish pure PD pathology from vascular origin or combined effects. So far little is known about the correlation between enlarged perivascular space (PVS) and FOG in PD patients. This study aims to explore the role of enlarged PVS in FOG in PD patients. Methods: A total of 95 patients with PD in the absence of obvious WMH and lacunes were included in our study, which were divided into PD-FOG (+) group and PD-FOG(-) group. Demographic and clinical data were investigated. Enlarged PVS in the centrum semiovale (CSO) and basal ganglia (BG) were assessed. The association between enlarged PVS and FOG in patients with PD was analyzed using the multivariate models and the Spearman's correlation. Results: There were 36 PD patients grouped into PD-FOG (+) (37.9%), with an older age, a longer PD disease duration, and larger numbers of enlarged PVS in CSO and BG compared with PD-FOG (-) group. The highest-severity degree of enlarged PVS burden in CSO was independently associated with FOG in patients with PD [adjusted odds ratio (OR), 3.869; p = 0.022 in multivariable model]. The percentages of FOG case increased accompanied by the aggravation of enlarged PVS located in CSO. The grade and count of enlarged PVS in CSO and BG both correlated with FOGQ score in PD patients. Conclusion: Enlarged PVS, particularly in CSO, are associated with FOG in patients with PD, which provides a novel perspective for the mechanisms of FOG in PD. [ABSTRACT FROM AUTHOR]

Hence, in a case of a spastic syndrome with or without ataxia, the presence of thin corpus callosum and "ears of lynx" sign should prompt the clinician to think of this cHSP subtype. Keywords: spastic ataxia; SPG15; ears of lynx EN spastic ataxia SPG15 ears of lynx 832 836 5 08/05/22 20220801 NES 220801 Hereditary spastic paraplegia (HSP) syndrome is a group of inherited, progressive, neurodegenerative disorders with clinical, radiological, and genetic heterogeneity. [Extracted from the article]

In patients affected by Parkinson's disease (PD), the most common neurodegenerative movement disorder, the brain is characterized by the loss of dopaminergic neurons in the nigrostriatal system, leading to dyshomeostasis of the basal ganglia network activity that is linked to motility dysfunction. PD mostly arises as an age-associated sporadic disease, but several genetic forms also exist. Compelling evidence supports that synaptic damage and dysfunction characterize the very early phases of either sporadic or genetic forms of PD and that this early PD synaptopathy drives retrograde terminal-to-cell body degeneration, culminating in neuronal loss. The Ras-associated binding protein (Rab) family of small GTPases, which is involved in the maintenance of neuronal vesicular trafficking, synaptic architecture and function in the central nervous system, has recently emerged among the major players in PD synaptopathy. In this manuscript, we provide an overview of the main findings supporting the involvement of Rabs in either sporadic or genetic PD pathophysiology, and we highlight how Rab alterations participate in the onset of early synaptic damage and dysfunction. [ABSTRACT FROM AUTHOR]

Objective  Human cases of acute profound hypoxic-ischemic (HI) injury (HII), in which the insult duration timed with precision had been identified, remains rare, and there is often uncertainty of the prior state of fetal health. Study Design  A retrospective analysis of 10 medicolegal cases of neonatal encephalopathy-cerebral palsy survivors who sustained intrapartum HI basal ganglia-thalamic (BGT) pattern injury in the absence of an obstetric sentinel event. Results  Cardiotocography (CTG) admission status was reassuring in six and suspicious in four of the cases. The median time from assessment by admission CTG or auscultation to birth was 687.5 minutes (interquartile range [IQR]: 373.5–817.5 minutes), while the median time interval between first pathological CTG and delivery of the infant was 179 minutes (IQR: 137–199.25 minutes). The mode of delivery in the majority of infants (60%) was by unassisted vaginal birth; four were delivered by delayed caesarean section. The median (IQR) interval between the decision to perform a caesarean section and delivery was 169 minutes (range: 124–192.5 minutes). Conclusion  The study shows that if a nonreassuring fetal status develops during labor and is prolonged, a BGT pattern HI injury may result, in the absence of a perinatal sentinel event. Intrapartum BGT pattern injury and radiologically termed "acute profound HI brain injury" are not necessarily synonymous. A visualized magnetic resonance imaging (MRI) pattern should preferably solely reflect the patterns description and severity, rather than a causative mechanism of injury. Key Points BGT HI injury pattern on MRI may develop in the absence of a perinatal sentinel event. BGT pattern injury may not be synonymous with "acute profound HI brain injury." MRI pattern and severity thereof should be described rather than a causative mechanism of injury. [ABSTRACT FROM AUTHOR]

Background: The analysis of the procedural memory is particularly relevant in neurodegenerative disorders like Parkinson's disease, due to the central role of the basal ganglia in procedural memory. It has been shown that anterograde procedural memory, the ability to learn a new skill, is impaired in Parkinson's disease. However, retrograde procedural memory, the long-term retention and execution of skills learned in earlier life stages, has not yet been systematically investigated in Parkinson's disease. Objective: This study aims to investigate retrograde procedural memory in people with Parkinson's disease. We hypothesized that retrograde procedural memory is impaired in people with Parkinson's disease compared to an age- and gender-matched control group. Methods: First, we developed the CUPRO evaluation system, an extended evaluation system based on the Cube Copying Test, to distinguish the cube copying procedure, representing functioning of retrograde procedural memory, and the final result, representing the visuo-constructive abilities. Development of the evaluation system included tests of discriminant validity. Results: Comparing people with typical Parkinson's disease (n = 201) with age- and gender-matched control subjects (n = 201), we identified cube copying performance to be significantly impaired in people with Parkinson's disease (p = 0.008). No significant correlation was observed between retrograde procedural memory and disease duration. Conclusion: We demonstrated lower cube copying performance in people with Parkinson's disease compared to control subjects, which suggests an impaired functioning of retrograde procedural memory in Parkinson's disease. [ABSTRACT FROM AUTHOR]

Neurosonography (NSG) is a readily available non-invasive radiological examination technique that assesses brain damage in neonates who experienced perinatal hypoxia. The aim of the study was to determine the relationship between hypoxic-ischemic (HI) brain injuries in full-term neonates detected during ultrasonography and mental and neuromotor development outcomes at an early school age. We evaluated 8--9-yearold children (n = 32) who had experienced hypoxia at birth with mild to moderate hypoxic-ischemic encephalopathy (HIE) and hadn't undergone therapeutic hypothermia. The control group consisted of 8--9-year-old children (n = 16) who were born healthy. During the first five days of life, the newborns underwent cerebral ultrasonography. The HIE stage was evaluated according to the Sarnat and Sarnat scale. Neuromotor and neurological outcomes were assessed using the Gross Motor Function Classification System, the Health Utilities Index (HUI) questionnaire, the Wechsler Intelligence Scale for Children WISC-III, and structured neurological examination. In the case of moderate brain edema and/or thalamus and/or basal ganglion injuries along with cerebellum and brainstem (E/T/BG/C/B) injuries compared to other injuries, the following abnormalities were statistically significantly more common: hearing disorders (100%, p = 0.03), cerebellar dysfunction (60%, p = 0.02), epilepsy (60%, p = 0.01), a lower Working Memory Index (median, 82.0, p = 0.015). In case of moderate brain swelling (edema) and thalamus and/or basal ganglion (E/T/BG) injuries, the sensitivity and specificity of the ultrasound examination when predicting epilepsy, hearing disorders, lower full IQ, and the Perceptual Organization Index were 100%. Neurosonography helps predict the outcomes of mental and neuromotor development at an early school age in fullterm neonates who experienced perinatal asphyxia/hypoxia. Moderate hypoxic-ischemic brain changes detected during ultrasonography were statistically significantly associated with hearing disorders, cerebellar dysfunction, epilepsy, and a lower Working Memory Index in children at an early school age. [ABSTRACT FROM AUTHOR]

The aim of this study was to investigate the magnetic resonance imaging (MRI) findings for the diagnose uremic encephalopathy and describe the usefulness of MRI findings in the ultimate diagnosis of uremic encephalopathy (UE). A total of 20 patients with uremic encephalopathy admitted to the hospital were evaluated in this prospective study. The clinical manifestations, laboratory and MRI imaging findings, demographic information, and clinical outcome were analyzed for each patient. We observed that the 20 prospectively reviewed patients with UE had no involvement of the basal ganglia or the lentiform fork sign (LFS). However, two-thirds of the patients had white matter involvement, and 80% of the subjects had cerebral or cortical atrophy. The arterial blood gas (ABG) analysis revealed that 50% of the patients suffered from metabolic acidosis (n=10). The results of the present study demonstrated that although the observation of Lentiform Fork Sign and Basal Ganglia involvement in MRI of UE patients is a specific finding the absence of which does not rule out UE. Thus, simultaneous examination of clinical manifestation and laboratory test analyses, along with imaging findings, should also be taken into account. [ABSTRACT FROM AUTHOR]

Dementia is a word for an acquired illness in which two or more cognitive abilities are lost due to a brain disease or injury. The most common form of dementia is Alzheimer's type dementia (DAT). It has been associated to cerebral cortical degenerative anomalies. It's also visible in neurologic diseases that primarily affect subcortical systems such as the basal ganglia and brain stem. The causes are plaques of ß-amyloid and tangles of intraneuronal tau protein. Dementia is addressed in this overview. Pathophysiology, epidemiology, and different varieties of dementia; contributing factors to dementia; symptoms, causes, diagnosis, prevention, and care; and new breakthroughs in dementia treatment. It also looks at how patients with mental problems coped during the COVID-19 outbreak. Patients may require more therapies to manage their illness, and some future drugs are now being explored. [ABSTRACT FROM AUTHOR]

Background and Hypothesis There is a substantial gap in life expectancy between patients with severe mental illness (SMI) and the general population and it is important to understand which factors contribute to this difference. Research suggests an association between tardive dyskinesia (TD) and mortality; however, results are inconclusive. In addition, studies investigating associations between parkinsonism or akathisia and mortality are rare. We hypothesized that TD would be a risk factor for mortality in patients with SMI. Study Design We studied a cohort of 157 patients diagnosed predominantly with schizophrenia on the former Netherlands Antilles. TD, parkinsonism, and akathisia were assessed with rating scales on eight occasions over a period of 18 years. Twenty-four years after baseline, survival status and if applicable date of death were determined. Associations between movement disorders and survival were analyzed using Cox regression. Sex, age, antipsychotics, antidepressants and benzodiazepines at each measurement occasion were tested as covariates. Study Results Parkinsonism was a significant risk factor with an HR of 1.02 per point on the motor subscale of the Unified Parkinson's Disease Rating Scale (range 0–56). TD and akathisia were not significantly associated with mortality. Conclusions Parkinsonism may be an important risk factor for mortality in SMI patients. This finding calls for more follow-up and intervention studies to confirm this finding and to explore whether treatment or prevention of parkinsonism can reduce excess mortality. [ABSTRACT FROM AUTHOR]

Pantothenate kinase associated neurodegeneration (PKAN) is a severe autosomal recessive rare disease and characterized by iron accumulation in the basal ganglia. To investigate the pathogenesis of this disease in two sibling patients with PANK in a Chinese family, whole-exome variant detection and functional analysis were performed. Clinical and radiographic investigations were performed in the two brother patients. Whole exome sequencing (WES) was used in mutation detection, and the mutations were confirmed by Sanger sequencing. A longevity cohort genetic database was applied as Chinese urban controls. Bioinformatic analysis was performed to predict the pathogenicity. Compound heterozygous mutations of PANK2 were detected in two sibling brothers with PKAN in a Chinese family: c.510_522del (p.A170fs) and c.1319G > C (p.R440P) in the transcript NM_153638. PANK2: c.510_522del (p.A170fs) was absent in public data and the Chinese urban controls. Bioinformatics analysis showed that the above two variants were pathogenicity. We identified a rare compound heterozygous combination of PANK2 mutations found in a Chinese family in which two sibling brothers suffered from PKAN. PANK2 c.510_522del (p.A170fs) was the first reported to be a PKAN pathogenic variant. [ABSTRACT FROM AUTHOR]

Background and Objective: Motor dysfunction is common in the elderly, and is associated with adverse consequences. Enlarged perivascular spaces in basal ganglia (BG-EPVSs) are considered an MRI marker of cerebral small-vessel diseases. However, the consequences of BG-EPVSs are largely unknown. In the present study, we aimed to explore the association between large numbers of BG-EPVSs and motor performance. Methods: We prospectively recruited elderly individuals in the Neurology Department of our hospital from December 1, 2020 to January 31, 2022. Participants with > 20 BG-EPVSs on the unilateral side of the slice containing the most EPVSs were classified as the BG-EPVS group (n=99) and the rest as controls (n=193). Motor performance was assessed by quantitative gait analysis, Tinetti test, timed up-and-go (TUG) test, and the Short Physical Performance Battery (SPPB). Spearman correlation analysis and multivariate linear regression analysis were performed to investigate the association between BG-EPVSs and motor performance. Results: Compared with the control group, the BG-EPVS group had lower gait speed and cadence, shorter stride length, longer TUG duration, and lower Tinetti gait test, Tinetti balance test, and SPPB scores (P< 0.01). Spearman correlation analysis showed that BG-EPVSs were negatively related to gait speed, gait cadence, stride length, and Tinetti gait test, Tinetti balance test, and SPPB scores (ρ= – 0.539 to – 0.223, P< 0.001) and positively related to TUG duration (ρ=0.397, P< 0.001). Regression analysis indicated that BG-EPVSs were an independent risk factor of lower gait speed, shorter stride length, poor balance, and poor general physical performance after adjusting for confounders (β= – 0.313 to – 0.206, P< 0.01). Conclusion: Large numbers of BG-EPVSs were independently related to poor gait, balance, and general physical performance in elderly individuals, which provides information about the consequences of BG-EPVSs and risk factors for motor dysfunction. [ABSTRACT FROM AUTHOR]