Expanding the Phenotypic Spectrum of CACNA1A Variants: A Single-Center Experience
Objective: This study aims to describe pediatric patients with CACNA1A variants, detailing the clinical phenotype, with emphasis on the movement phenomenologies, genetic variants, electrophysiological and…The Clinicoradiological profile of patients with Osmotic Demyelination Syndrome and Movement Disorders
Objective: This study aims to characterize clinicoradiological features and outcomes in patients of Osmotic Demyelination Syndrome(ODS) presenting with movement disorders(MD). Background: ODS includes central pontine…Genotype-Phenotype Relations in Neurodegeneration with Brain Iron Accumulation (NBIA) Genes: MDSGene Systematic Review
Objective: To provide a comprehensive review of individual-level data and genotype-phenotype relationships for genes implicated in neurodegeneration with brain iron accumulation (NBIA) disorders. Background: The…Examining the Impact of a Single Session of Myofascial Release via Dry Needling on Step Length in Individuals with Parkinson’s Disease
Objective: This study aims to elucidate the impact of a singular myofascial release session employing Dry Needling (DN) on step length within a complete gait…Prevalence and Comorbidities of Orthostatic Hypotension in Older Adults: A Two-Year Study
Objective: To determine the prevalence of OH and its associations with autonomic dysfunction, falls, and mortality. Background: Orthostatic hypotension (OH) is a common problem that…The Role of Mitochondrial DNA Haplogroups in determining the Age of Onset in Indian SCA2 Patients.
Objective: To investigate the contribution of mitochondrial DNA (mtDNA) haplogroups to the age at onset (AO) of Spinocerebellar Ataxia type 2 (SCA2) in Indian patients,…Spinocerebellar Ataxia Type 17 First Reported Case in Northern Mexico
Objective: To report the first documented case of spinocerebellar ataxia type 17 (SCA17) in northern Mexico. Background: SCA17 is an autosomal dominant neurodegenerative disorder caused…Brain Structural Impairment in Spinocerebellar Ataxia Type 6: Not Restricted to the Cerebellum
Objective: To characterize the structural brain signature in SCA6 patients. Background: Spinocerebellar ataxias (SCA) refer to a group of autosomal dominant ataxic disorders that result…The FGF14-SCA27B GAA•TTC Repeat Shows Marked Somatic Expansion in the Cerebellum
Objective: To characterize somatic instability and molecular mechanisms of the FGF14 GAA•TTC repeat across serial blood samples, fibroblasts, induced pluripotent stem cells (iPSCs), and post-mortem brains. Background: Spinocerebellar…Correlations of plasma glial fibrillary acidic protein levels with glymphatic system impairment in Huntington’s disease
Objective: To investigate whether plasma glial fibrillary acidic protein (GFAP) levels are related to glymphatic system function in Huntington's disease (HD). Background: Plasma GFAP levels has…
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