A Case Report of Two Affected Siblings with Spinocerebellar Ataxia Type 1
Objective: To present a case of two affected siblings with Spinocerebellar ataxia type 1 Background: Spinocerebellar ataxia type 1 (SCA1) is an autosomal dominant neurodegenerative…Friedreich Ataxia Versus Ataxia With Vitamin E Deficiency : A Comparative Study Of Electrophysiological Features
Objective: Our aim is to compare the electrophysiological features of FRDA and AVED in order to identify distinctive characteristics of both diseases. Background: Autosomal recessive…Brainstem Subsegmentation in Spinocerebellar Ataxia Type 3 (SCA3)
Objective: The aim of our work is to create a novel protocol for manual subsegmentation of the human brainstem for creating accurate brainstem labels for…Decreased Disease Burden in Motor-Related HD-HI Domains Among Adults With Huntington’s Disease Treated With Valbenazine
Objective: To evaluate the effects of valbenazine (VBZ) on mobility, abnormal movements, and hand/arm function as assessed using the Huntington’s Disease Health Index (HD-HI). Background:…Malnutrition Risk in Huntington’s Disease: A Cohort Study on Prevalence and Prognosis with Mendelian Randomization Validation
Objective: This study aimed to investigate malnutrition prevalence (using the Controlling Nutritional Status Score [CONUT], Prognostic Nutritional Index [PNI], and Geriatric Nutritional Risk Index [GNRI]),…Cognitive outcomes in thalamic deep brain stimulation for essential tremor: evaluating effect of anesthetic exposure and surgical approach
Objective: This study examined cognitive outcomes after deep brain stimulation (DBS) of ventral intermediate nucleus of the thalamus (VIM). Duration of anesthesia exposure and additional…Spatiotemporal Neural Dynamics of the Cerebellum Underlie Differential Therapeutic Outcomes in Essential Tremor Subtypes
Objective: Identify differential therapeutic responses in essential tremor (ET) models.Characterize the spatiotemporal neural dynamics and circuitry features in these models.Elucidate neuronal mechanisms underlying drug-response dynamics…Detection and characterization of rare variants in NOTCH2NLC causing false negative molecular diagnosis through long-read sequencing
Objective: This study investigated a NIID patient with typical clinical and imaging features but no detectable NOTCH2NLC GGC expansion using standard testing. Whole-genome long-read sequencing…Novel heterozygous variant in VPS13A: First case report of choreoacanthocytosis in northern México
Objective: This is the first reported case of choreoacanthocytosis with molecular confirmation in northern Mexico, which also presented a previously unreported variant in genetic databases.…Chorea,dystonia, and tics:lessons learned from the clinical pattern associated with VPS13A disease
Objective: To highlight clinical manifestations of VPS13A disease Background: VPS13A disease causes motor and neuropsychiatric symptoms including dystonia, chorea, tics, and cognitive decline, but can…
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