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Byline: Halil. Onder, Hayri. Kertmen, Selcuk. Comoglu Dear Editor, A 69-year-old male patient with Parkinson's disease (PD) presented due to blurred vision and left ptosis. The patient had received the [...]

BACKGROUND: Hereditary diffuse leukoencephalopathy with spheroids (HDLS), first described in 1984 is a rare disorder. Generally, it presents at adulthood with dementia, motor impairment, extrapyramidal abnormalities, and epilepsy. Definitive diagnosis is made by brain biopsy. Neuroimaging studies have revealed confluent white matter lesions predominantly in the frontal lobes, corpus callosum, and corticospinal tracts on conventional magnetic resonance imaging. Only a few reports showed diffusion restriction in the cerebral white matter; furthermore, rarer reports emphasized persistent foci of diffusion restriction as a diagnostic imaging marker. OBJECTIVE: Herein, we have aimed to illustrate the first biopsy-proven Turkish HDLS pedigree consisting of 18 persons in 3 generations which contained 4 affected individuals. MATERIALS AND METHODS: Four individuals in the pedigree of HDLS [two affected patients (patient III-1 and patient III-2) and two unaffected individuals (patient II-4 and patient III-5)] were investigated with conventional MRI and Diffusion-weighted imaging (DWI) using 1.5 Tesla (T) scanner. All four individuals were evaluated via neurological examinations and Mini-Mental State Examination. Brain biopsy study was performed on patient III-2. Finally, an extensive literature review involving pathology investigations and neuroimaging studies of HDLS patients was conducted. RESULTS: DWIs of two investigated patients showed deep white matter lesions with persistent diffusion restriction. Computed tomography imaging showed punctate mineralization in the lesions. Biopsy specimens of patient III-2 demonstrated axonal spheroids which were typical for HDLS. CONCLUSIONS: Via the presentation of our pedigree and literature review, we suggest HDSL as a first-line differential diagnosis in patients with undiagnosed adult-onset familial leukoencephalopathy, in particular, those with MRI lesions of frontal white matter and centrum semiovale associated with foci of diffusion restriction and mineralization. Finally, we think that the persistence of the diffusion restriction in deep white matter lesions should be kept in mind as a crucial neuroimaging sign for HDLS.

Byline: Halil. Onder, Zeynep. Bahtiyarca, Selcuk. Comoglu Introduction: The causal relation between STN-DBS and speech problems and the associated clinical features are in the incipient stages of being investigated. Methods: [...]

Byline: Halil. Onder, Hayri. Kertmen, Bilge. Kocer, Elif. Ercan, Selcuk. Comoglu Dear Editor, Tourette syndrome (TS) is defined as a childhood neurobehavioral disorder that is characterized by the presence of [...]

AbstractObjectiveMethodsResultsConclusionTo reveal the discriminative value of gait parameters between Alzheimer’s disease (AD) and Parkinson’s disease (PD) subjects.We included all consecutive patients with newly diagnosed AD and those with a diagnosis of PD who applied to our polyclinic between March 2022 and June 2022. The demographic and clinical features were evaluated during interviews. The gait analyses were performed using a quantitative, smartphone-based gait analyses program. Using this program, the step time (ST), step length (SL), step number (SN), gait velocity (GV), and cadence were measured in all individuals.Overall, 31 patients with AD and 45 with PD were enrolled in the analyses. The mean age of the AD group was higher according to those with PD. As expected, the Mini-Mental State Examination (MMSE) values were lower in the AD group. The comparative analyses of the gait parameters between groups did not reveal differences in any of the measures. The correlation analyses to investigate the possible association between the disease severity and gait parameters revealed that the MDS-UPDRS showed low negative correlations with SL and GV.Our findings suggest that the evaluation of gait using the gait analyses program does not contribute to the discrimination between AD and PD in clinical practice. [ABSTRACT FROM AUTHOR]

Byline: Halil. Onder, Bilge. Kocer, Selcuk. Comoglu Dear Editor, A 44-year-old male patient was admitted to our polyclinic due to a left-sided tremor that had started six months ago and [...]

Herein, we describe a 55-year-old female patient with a functional movement disorder (FMD) who presented with normal pressure hydrocephalus (NPH)-like clinic. The neuroimaging data and positive response to the tap test initially suggested NPH. However, a detailed investigation of the clinic features yielded a final diagnosis of FMD. Via the presentation of this patient, we expand the phenomenology of FMD. To our knowledge, this is the first presentation of a patient with FMD mimicking NPH. Therefore, we think this rare illustration is interesting and may provide valuable perspectives for clinical practice. [ABSTRACT FROM AUTHOR]

Herein, we report a 62-year-old female patient with Multiple system atrophy (MSA) at whom the sympathetic skin responses (SSRs) were absent at initial investigations. However, the levodopa therapy provided normalization of SSRs and moderately improvement in orthostatic hypotension-related symptoms. Based on this rare illustration, we discuss the possible mechanisms underlying the pathophysiology of autonomic dysfunction in MSA. We remark on the need for future clinical and experimental studies in this field. [ABSTRACT FROM AUTHOR]

Byline: Halil. Onder, Selcuk. Comoglu Dear Editor, The recent article by Tandra et al .[1] reports crucial findings focusing on an interesting issue of the impact of deep brain stimulation [...]

Byline: Selcuk. Comoglu, Bilge. Kocer, Hayri. Kertmen, Halil. Onder Letter to Editor, A-67-year-old right-handed male patient with akinetic rigid Parkinson's disease (PD) had undergone subthalamic nucleus deep brain stimulation (STN-DBS) [...]

Byline: Halil. Onder, Bilge. Kocer, Selcuk. Comoglu Editor, A-25-year-old male patient admitted due to right-sided tremor which had started 8 years ago in his hand and progressed over the period [...]

Byline: Halil. Onder, Bilge. Kocer, Selcuk. Comoglu Letter to Editor, Freezing of gait (FOG) is an episodic, abnormal gait pattern that accompany frequently in advanced Parkinson's disease (PD). FOG can [...]

In this research, paying particular attention to freezıng of gait (FOG), we aimed to investigate the associations between the clinical features and quality of lilfe (QOL) indexes comparatively in our PD subjects with and without STN-DBS therapy. All consecutive PD subjects with and without STN-DBS who applied to our movement disorders outpatient clinics between January/2022 and September/2022; and accepted to participate in the study were enrolled. The demographic data and clinical features were noted. Besides, the MDS-UPDRS, the FOG Questionnaire (FOGQ) and the Parkinson's Disease Questionnaire (PDQ-39) have also been performed on all individuals. Overall, 105 patients with PD participated in this study (34 patients with STN-DBS, 71 patients without STN-DBS). No difference was found in the PDQ-39 scores between patients with and without STN-DBS. The correlation analyses between the PQQ-39 scores and the clinical parameters revealed significant moderate correlations with the FOGQ score and low correlations with MDS-UPDRS scores. The analyses repeated in either patient group showed that there were no correlations between the MDS-UPDRS scores and PDQ-39 indexes in the DBS group. Besides, the correlations between the PDQ-39 scores and the FOG scores were more prominent in patients without DBS therapy. FOG was found to be associated with worse QOL status in both patients with and without STN-DBS therapy. However, the correlations analyses in either group showed that FOG was a more significant determinant in the QOL indexes in patients without DBS. Future studies evaluating the impact of other clinical features such as falls and gait impairment in QOL of patients with STN-DBS may provide contributions to the current evidence. [ABSTRACT FROM AUTHOR]

Byline: Halil. Onder Background: Stapes reflex test is a method of evaluating the involuntary muscle contraction of the stapedius muscle in response to a high-intensity sound stimulus. The formation of [...]