A Child with Fever-Induced Paroxysmal Weakness and Encephalopathy with ATP1A3 mutation
Objective: We describe a case of fever-induced paroxysmal weakness and encephalopathy (FIPWE), also known as relapsing encephalopathy with cerebellar ataxia (RECA) and expand the phenotypic…Whole-Exome Sequencing in a Movement Disorders Clinic
Objective: To evaluate the diagnostic utility of whole-exome sequencing (WES) in select patients with a movement disorder. Background: Many patients with suspected genetic movement disorders…Be aware of pitfalls: Bioinformatic analysis of Cas9-targeted Nanopore sequencing of the RFC1 repeat in CANVAS
Objective: To determine the full sequence and length of the pentanucleotide repeat in the RFC1 gene by Cas9-targeted Nanopore sequencing in patients with cerebellar ataxia…PLA2G6-Associated Neurodegeneration: A Continuum of Phenotypes
Objective: To characterize the spectrum of phenotypes of PLA2G6-associated neurodegeneration in a single patient. Background: The phospholipase A2 Group VI (PLA2G6) gene encodes a cytosolic and…MOLECULAR-GENETIC ASPECTS OF WILSON’S DISEASE IN UKRAINE
Objective: To assess the features of molecular genetic mutations in the Ukrainian population of patients with Wilson's disease (WD). Background: Molecular genetic research becomes available…Clinical presentation of coexistence of Spinocerebellar ataxia (SCA14) gene duplication variant in association with Spinocerebellar Ataxia (SCA8) gene mutation in a same patient.
Objective: First case report to demonstrate an overlap of two autosomal dominant ataxia's (SCA8 and SCA14) in same patient expanding the clinical spectrum of spinocerebellar…Prevalence and Clinical Characteristics of Autosomal Dominant Spinocerebellar Ataxia in a Large Canadian Cohort from Ontario
Objective: To describe the prevalence and clinical characteristics of Autosomal Dominant (AD) Spinocerebellar Ataxias (SCA) in a Canadian cohort of patients in Ontario. Background: SCAs…A novel GRM1 variant associated with autosomal dominant cerebellar ataxia (ADCA)
Objective: To present a unique case of ataxia that adds to the genotypic variants associated with the GRM1 gene implicated in SCA44 Background: Heterozygous dominant…Spinocerebellar ataxia (SCA) type 2 and type 8: a tale of two repeat expansions in a single patient
Objective: To describe the rare occurrence of coexisting SCA Types 2 and 8 in a pediatric patient. Background: SCAs are a group of autosomal dominant…Hot cross bun sign in progressive ataxia with ELVOL4 mutation
Objective: To describe a case of progressive gait abnormalities and bulbar dysfunction which was associated with genetic mutation and neuroimaging findings representative of spinocerebellar ataxia…
- « Previous Page
- 1
- …
- 12
- 13
- 14
- 15
- 16
- …
- 28
- Next Page »