Late-onset THAP-1 with SCA8 expansion mimicking functional movement disorder, case report.
Objective: - Background: Functional movement disorders (FMD) are characterized by abnormal movements without an identifiable neurological cause. Diagnosis and management of patients with FMD can…SCA-2 Presenting as Isolated Progressive Spastic Paraparesis
Objective: Describe an infrequently encountered phenotypical presentation of Spinocerebellar ataxia (SCA) Background: SCAs are a group of genetically diverse neurodegenerative disorders marked by high clinical heterogeneity. …Assessment of GCA repeat expansion in the GLS gene among Indian patients with Spinocerebellar Ataxia
Objective: Spinocerebellar ataxia (SCA) is a group of neurodegenerative disorders. More than 40 microsatellite repeat loci have been associated with ataxia. The GCA repeat expansion…Movement Disorder Phenotypes and Etiological Associations in Genetic Early-Onset Ataxias: A Pediatric Cohort Study
Objective: To investigate the frequency, clinical spectrum, and etiological correlates of movement disorders (MD) in early-onset ataxias. Background: Early-onset ataxias are rare genetic disorders (1).…Neurological disease progression in adults with ataxia telangiectasia – a longitudinal study
Objective: To evaluate longitudinal neurological disease progression in the largest available worldwide cohort of adults with ataxia-telangiectasia. Background: Ataxia-telangiectasia (AT) is a rare, multisystem neurodegenerative…Variable Clinical and Neuroimaging Features in Spinocerebellar Ataxia Type 17
Objective: To describe two patients with genetically confirmed spinocerebellar ataxia type 17 (SCA17) demonstrating markedly different clinical phenotypes, disease severity, and neuroimaging findings. Background: SCA17…Clinical and genetic analysis of Kuwaiti and Saudi families exhibiting CLN5 adult-onset autosomal recessive spinocerebellar ataxia. A potential founder mutation
Objective: To characterize the genetic and phenotypic characteristics of patients from five unrelated families with adult-onset ataxia Background: Biallelic variants of the CLN5 gene were…Perrault Syndrome in a Young Adult with Co-existing HSD17B4 Variant and CNBP Mutation
Objective: To report a case of Perrault syndrome with unusually severe cerebellar, cognitive, gastrointestinal, and psychiatric features, with “likely pathogenic” HSD17B4 variant and CNBP mutation.…Progressive Lifelong Chorea with Spastic Paraparese and Cerebellar Ataxia Associated with Two Heterozygous Variants in the SYNE1 Gene: A Case Report
Objective: To report a case harboring two different heterozygousSYNE1 variants whose combined effect is suspected tounderlie a complex neurogenetic phenotype Background: SYNE1 encodes nesprin-1, one…Triplet repeat length determines the liquid-liquid phase separation propensity of single-dtranded DNA
Objective: To determine whether CAG trinucleotide repeat number intrinsically governs liquid-liquid phase separation (LLPS) of single-stranded DNA (ssDNA). Background: LLPS has emerged as a fundamental…
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