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…Ataxia in a Puerto Rican woman with a missense variant in the CCDC88 gene
Objective: A 44 years old Puerto Rican woman develops progressive speech difficulties, and cognitive problems. Coordination, balance and gait get affected. Later experienced swallowing problems.…CEREBELLAR COGNITIVE AFFECTIVE SYNDROME IN SPINOCEREBELLAR ATAXIA TYPE 3
Objective: This preliminary study aims to examine whether motor and cognitive features in spinocerebellar ataxia type 3 (SCA3) are manifestations of a shared and parallel,…Effects of Gandouling Tablets on the Muscle tone and stiffness of patients with Wilson’s disease: a randomized, double-blind, placebo-controlled study
Objective: To analyze the effects of Gandouling tablets(GDL) on the tone and stiffness of the biceps brachii muscle in Wilson’s disease (WD) patients, and the correlation between…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…
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