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Background and purpose: Spinocerebellar ataxia type 10 is a neurodegenerative disorder that is due to an expanded ATTCT repeat tract in the ATXN10 gene. Our aim was to describe clinical characteristics and intragenic haplotypes of patients with spinocerebellar ataxia type 10 from Brazil and Peru. Methods: Expanded alleles were detected by repeat-primed polymerase chain reaction. Disease progression was measured by the Scale for the Assessment and Rating of Ataxia, and the Neurological Examination Score for Spinocerebellar Ataxias when possible. Haplotypes were constructed based on polymorphic markers within and outside the gene. Results: Thirteen new families were diagnosed (three from Peru). Patients from three Brazilian families diagnosed previously were also reassessed. In total, 25 individuals (16 families) were evaluated. Mean (± SD) age at onset and disease duration were 34.8 ± 10.2 and 12 ± 8 years, respectively. Common findings were ataxia, dysarthria/dysphagia, nystagmus, pyramidal signs, ophthalmoparesis and seizures. No associations were found between clinical findings and geographical origins. Twelve patients living in remote regions were examined only once. In the remaining individuals, the Scale for the Assessment and Rating of Ataxia score, and Neurological Examination Score for Spinocerebellar Ataxias worsened by 0.444 (95% CI, 0.088 to 0.800) and 0.287 (95% CI, 0.061 to 0.635) points/year, respectively. A common haplotype, 19CGGC14, was found in 11/13 of Brazilian and in 1/3 of Peruvian families. Conclusions: The progression rate was slower than in other spinocerebellar ataxias. A consistently recurrent intragenic haplotype was found, suggesting a common ancestry for most, if not all, patients. [ABSTRACT FROM AUTHOR]

Competing Interests: The authors declare that there are no conflicts of interest relevant to this work.

Due to technological advancement of medicine, patients have been maintained through mechanical ventilation and vasoactive drugs despite complete and irreversible brain injuries. Accurate diagnosis of brain death (BD) reduces costs, shortens family's suffering, and increases availability of intensive care beds and organs for transplantation. Guidelines were created to standardize BD diagnostic parameters, but knowledge of medical students and medical professionals has been demonstrated to be insufficient. To assist health professionals' in BD determination, a digital training tool that contained images, videos and interactive content was developed for desktops and mobile devices. Software to create and animate 3D models (MakeHuman™ and Blender™) and a game development platform (Unity) were used. Versions for all the major operating systems (iOS™, Android™, macOS™, Windows™ and Linux™) are being made available through online repositories and mobile application stores.

Huntington's disease (HD) is due to dominant expansions of the CAG repeat of the HTT gene. Meiotic instability of the (CAG)n might impact the disorder frequency. We report on HD minimal prevalence in Rio Grande do Sul (RS) state, Brazil, and on intergenerational instability of the (CAG)n in HD families. Symptomatic and at-risk subjects from 179 HD families were ascertained between 2013 and 2016. Clinical, molecular and family history data were obtained. Expanded (CAG)n length differences between parent and child (delta-expanded-(CAG)n) were calculated. Effect of parental age on the (CAG)n instability upon transmission was inferred by correlating delta-expanded-(CAG)n between siblings to their age differences. HD minimal prevalence in RS state was estimated as 1.85:100,000 inhabitants. Alleles with (CAG)27-35 were found on 21/384 non-disease associated chromosomes (5.5%); among 253 expanded alleles, four (1.6%) were within reduced penetrance range with (CAG)36-39. In 32 direct transmissions, mean instability was larger among paternal than maternal transmissions. In direct transmissions and in 51 sibling pairs, parental age at the time of child birth were not correlated with delta-expanded-(CAG)n. Briefly, HD prevalence in RS state was lower than those reported for European populations. Expanded (CAG)n transmissions were unstable and not associated to parental age.

Neurodegeneration with brain iron accumulation (NBIA) represents a heterogeneous and complex group of inherited neurodegenerative diseases, characterized by excessive iron accumulation, particularly in the basal ganglia. Common clinical features of NBIA include movement disorders, particularly parkinsonism and dystonia, cognitive dysfunction, pyramidal signs, and retinal abnormalities. The forms of NBIA described to date include pantothenase kinase-associated neurodegeneration (PKAN), phospholipase A2 associated neurodegeneration (PLAN), neuroferritinopathy, aceruloplasminemia, beta-propeller protein-associated neurodegeneration (BPAN), Kufor-Rakeb syndrome, mitochondrial membrane protein-associated neurodegeneration (MPAN), fatty acid hydroxylase-associated neurodegeneration (FAHN), coenzyme A synthase protein-associated neurodegeneration (CoPAN) and Woodhouse-Sakati syndrome. This review is a diagnostic approach for NBIA cases, from clinical features and brain imaging findings to the genetic etiology.

Rationale: Depression is a frequent non-motor symptom in Parkinson's disease (PD) with increasing rates with the progression of the disease. Molecular imaging studies have shown a reduction of dopamine transporter (DAT) density in depressed PD patients (dPD); however, DAT role in the pathophysiology of PD depression is not clear since clinical matching was inappropriate and DAT reduction could be attributed to PD severity., Objectives: To further examine the role of DAT in PD depression, this study compared thoroughly matched depressed vs. non-depressed PD patients (ndPD)., Materials and Methods: Twenty PD patients (n = 10 ndPD; n = 10 dPD) matched for age and disease severity were submitted to brain SPECT imaging with [(99m)Tc]-TRODAT-1, a DAT radioligand. DAT-binding potential was calculated using regions of interest bilaterally drawn in the striatum, caudate, and putamen. Depression was defined according to Beck Depression Inventory (BDI; cut-off >18)., Results: Mean BDI scores were higher in dPD (25.0 +/- 5.6) than in ndPD patients (8.0 +/- 1.9, p < 0.0001). DAT density was greater on dPD especially in the left caudate (dPD 0.87 +/- 0.19 vs. ndDP 0.69 +/- 0.18, p = 0.02) and right putamen (dPD 0.37 +/- 0.07 vs. ndPD 0.28 +/- 0.13, p = 0.03) than in ndPD patients., Conclusion: Our results suggest that in vivo DAT density is increased in dPD patients as compared to ndPD, suggesting that DAT is implicated in the pathophysiology of PD depression.

Objectives: To evaluate patients with "clinically established" psychogenic parkinsonism (PsyP) using single-photon emission computer tomography (SPECT) with the technetium-99m labeled tracer TRODAT-1, a dopamine transporter (DAT) ligand, and investigate whether these patients have an underlying degenerative parkinsonism., Patients and Methods: Five patients with PsyP were assessed using demographic data, standard clinical scales for Parkinson's Disease (PD), and a neuropsychiatric interview. DAT imaging using SPECT with TRODAT-1 was performed, and values for caudate/putamen DAT binding potentials (BP) registered. Patients with PsyP were matched with PD (n=5) and healthy control subjects (n=5)., Results: The mean age (years-old) at first evaluation in the PsyP group was 37.4+/-3.7, and the mean disease duration (years) was 3.9+/-1.2. DAT BPs (means+/-standard deviations) on right/left caudate were, respectively, 0.69+/-0.18 and 0.70+/-0.18 in the PD group versus 1.17+/-0.06 and 1.12+/-0.10 in the control group. DAT BPs on right/left putamen were, respectively, 0.48+/-0.10 and 0.45+/-0.06 in the PD group versus 1.10+/-0.10 and 1.21+/-0.43 in the control group. Two out of five patients from the PsyP group had values for DAT BP in the putamen under the cut-off (< or =0.70) for controls, implying pre-synaptic dopaminergic deficit., Conclusions: Our data in this small group of patients suggest that DAT imaging is a tool that may help in the identification of underlying degenerative parkinsonism in PsyP., (Copyright 2009 Elsevier B.V. All rights reserved.)

Despite its relatively high prevalence Parkinson's Disease (PD) is still misdiagnosed in approximately 25% of cases. In this study our aim was to evaluate patients with Clinically Unclear Parkinsonian Syndromes (CUPS) submitted to brain SPECT imaging using the technetium-99m labeled Dopamine Transporter (DAT) tracer TRODAT-1. We recruited 15 subjects with CUPS and matched them with 13 patients with probable PD and 13 healthy control subjects (HCS). A SPECT with TRODAT-1 was performed at the baseline evaluation and patients from the CUPS were followed-up for 2-years to ensure or not PD diagnosis ("gold-standard"). The mean+/-SD results from Right and Left striatum Binding Potential (BP) were, respectively, 1.08+/-0.20 and 1.04+/-0.16 in the HCS group, 0.47+/-0.16 and 0.53+/-0.17 in the PD group, and 0.68+/-0.11 and 0.84+/-0.17 in the CUPS group. The rate of disagreement between baseline SPECT in the CUPS group as compared to the "gold standard" diagnosis (clinical diagnosis of PD on follow-up) was of 20%. The sensitivity of the SPECT with TRODAT-1 was 100%, while specificity was 70%. In conclusion, our data provided further information about the role of the technetium-99m labeled tracer TRODAT-1 as a biomarker of DAT reduction that can also be used in the diagnosis of patients with CUPS., (Copyright 2010 Elsevier B.V. All rights reserved.)

Data on the frequency of PINK1 mutations in Brazilian patients with early-onset Parkinson's disease (EOPD) are lacking. The aim of this report was to investigate mutations of the PINK1 gene in a cohort of Brazilian patients with EOPD. Sixty consecutive familial or sporadic EOPD patients were included. All eight PINK1 exons and exon-intron boundaries were analyzed. We did not find any pathogenic mutation of PINK1 in our cohort. Single Nucleotide Polymorphisms (SNP) were identified in 46.7% of the patients and in 45.9% of controls (P = 0.9). The SNPs identified in our patients had already been described in previous reports. The results of our study support the hypothesis that mutations in PINK1 may not be a relevant cause of EOPD. In Brazil, if we consider only EOPD patients, it seems that parkin and LRRK2 mutations are more common., (2009 Movement Disorder Society.)

We retrospectively evaluated 118 patients with cervical dystonia (CD) treated with botulinum toxin type A (BTX-A) for the following variables: gender, age at evaluation, age at symptom onset, disease duration, presence of head/neck pain and/or tremor, pattern of head deviation, disease progression (spreading of symptoms), etiology (primary vs. secondary), pretreatment with oral medication, and Tsui score. We investigated whether these parameters could predict the clinical outcome in a short- (<30 days) and long-term basis. On short-term treatment, there were no clinically significant differences between BTX-A responsive and non-responsive patients. On long-term treatment, however, intake of oral medication previously to BTX-A injection and higher Tsui scores were predictors of favorable response. These results suggest that the greater CD severity the more likely patients will respond to BTX-A.

Background and Purpose: Few studies have attempted to develop clinical predictors for cervical dystonia (CD) aiming at progression of the dystonic movement., Method: We retrospectively evaluated 73 patients with primary CD who underwent treatment with Botulinum toxin type-A (BTX-A). The patients were assembled in two groups according to the spread of dystonia during follow-up: spreading and non-spreading CD. We performed a binary logistic regression model using spreading of cervical dystonia as dependent variable aiming to find covariates which increase the risk of spreading., Results: Our logistic regression model found the following covariates and their respective risk ratios: time of disease >18.5 months=2.4, retrocollis=1.9, anterocollis=1.8, head tremor=1.6., Conclusion: Time of disease >18.5 months, retrocollis, anterocollis and head tremor may predict spreading of dystonic movement to other regions of the body in CD patients.

Clinical features of pontine infarction depend on the topography of vascular lesion and most remarkably sometimes the same topographic region can lead to different clinical syndromes (e.g., dorsal pontine tegmentum). In this report we describe an elderly patient with acute dorsal pontine infarction leading to a unique syndrome of bilateral horizontal gaze palsy and unilateral peripheral facial paralysis. We propose that this syndrome could be included as a part of a continuum that involves one-and-a-half syndrome, eight-and-a-half syndrome, and other variants of pontine tegmentum infarction.

Objective: To describe clinical and neuroimaging (SPECT) characteristics of Brazilian patients with Parkinson's disease (PD) and mutations in PARK2 or PARK8 genes., Method: A total of 119 patients meeting clinical criteria for PD were evaluated., Results: Of all patients studied, 13 had mutations in either PARK2 (n=9) or PARK8 genes (n=4). No statistically significant differences in clinical characteristics in both groups were seen. SPECT with [99mTc] TRODAT-1 showed significant differences between patient and control and the most remarkable difference was between PARK2 and control., Conclusion: The study found a frequency of mutation of 10.1% and it was most commonly seen in women. These patients had long disease course and high rates of dyskinesia after L-DOPA use. PARK8 patients did not have a relevant family history of PD.

Background: The diagnosis of Parkinson disease (PD) is based on clinical criteria but misdiagnosis is as high as 25% of cases as confirmed by anatomic-pathologic studies. Since the introduction of in vivo molecular imaging techniques using Single-Photon Emission Computed Tomography and Positron Emission Tomography, the diagnosis of PD became more reliable by assessing dopaminergic and even nondopaminergic systems., Review Summary: The purpose of this article is to critically review the current data on molecular neuroimaging focusing on the nigrostriatal circuitry and providing useful information on the role of these new imaging techniques in the management of clinically unclear cases of PD., Conclusions: Patients with essential tremor, psychogenic Parkinsonism or drug-induced Parkinsonism can be differentiated from PD in doubtful situations using molecular imaging techniques evaluating striatal dopamine transporters (DAT). However, in patients with vascular Parkinsonism, atypical Parkinsonism and Parkinsonism associated with dementia DAT scans have less diagnostic usefulness. Scans with non-DAT tracers (ie, D2 dopamine receptors) are necessary together with long-term clinical follow-up, and rescans to improve diagnostic accuracy.

Objective: The association of cervical dystonia (CD) with other movement disorders have been already described, but data on clinical outcome regarding these patients are scant. The aim of this paper was to investigate whether patients with CD and head tremor (HT) would have a different outcome regarding to botulinum toxin type-A (BTX-A) treatment response and clinical and demographic parameters., Method: We retrospectively evaluated 118 medical charts of patients with CD and divided them into two groups: with (HT+) and without (HT-) head tremor. We compared the following clinical and demographic parameters: age at onset, disease duration, progression of symptoms, etiology, familial history, presence of hand tremor. We also analyzed the response to BTX-A according to Tsui score in both groups., Results: The occurrence of head tremor in our sample was of 38.2%. The occurrence of postural hand tremor in the patients from the HT+ group was higher than in the HT- one (p=0.015) and if we compare BTX-A response in each group, we observe that patients with HT present a better outcome in a setting of longer follow-up. In HT+ group, Tsui score pre treatment was 10 (6-12.5) and after follow-up was 8 (5.5-10.5); p<0.001. In HT- group there was no significant difference 9 (7-12) in pre treatment and after follow-up; p=0.07., Conclusion: According to our data it seems that head tremor may influence the clinical outcome or treatment response with BTX-A in patients with CD.

Background: The association between Dystonia and Parkinson's disease (PD) has been well described especially for foot and hand dystonia. There is however few data on dystonic postures in patients with atypical parkinsonism., Objective: To evaluate the frequency and pattern of dystonia in a group of patients with atypical parkinsonism (multiple system atrophy - MSA, progressive supranuclear palsy - PSP, and corticobasal degeneration - CBD) and to investigate whether dystonia could be the first presenting symptom at disease onset in those patients., Method: A total of 38 medical charts were reviewed (n=23/MSA group; n=7/CBD group; n=8/PSP group) and data values were described as means/standard deviations. The variables evaluated were sex, age at onset, disease duration, first symptom, clinical features of dystonia and other neurological signs, response to levodopatherapy, Hoehn &Yahr -scale >3 after three years of disease, and magnetic resonance imaging findings., Results: The overall frequency of dystonia in our sample was 50% with 30.4% (n=7) in the MSA group, 62.5% (n=5) in the PSP group, and 100% (n=8) in the CBD group. In none of these patients, dystonia was the first complaint. Several types of dystonia were found: camptocormia, retrocollis, anterocollis, blepharoespasm, oromandibular, and foot/hand dystonia., Conclusion: In our series, dystonia was a common feature in atypical parkinsonism (overall frequency of 50%) and it was part of the natural history although not the first symptom at disease onset. Neuroimaging abnormalities are not necessarily related to focal dystonia, and levodopa therapy did not influence the pattern of dystonia in our group of patients.

Behr syndrome is an autosomal recessive disease characterized by early-onset ataxia, optic atrophy and other signs such as pyramidal tract dysfunction. Autosomal dominant inheritance has also been described. In this case report we present a family pedigree of patients with an inherited autosomal dominant Behr syndrome-like phenotype emphasizing their clinical and neuroimaging features.

We report a 30-year-old man with moving ear syndrome caused by focal myoclonic jerks of the right temporal muscle. This focal myoclonus would disappear while the patient was sleeping, swallowing, or speaking. He was treated with botulinum toxin type A with a favorable outcome. Previous reports of this condition and possible therapeutic approaches are discussed., (2007 Movement Disorder Society)