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…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…
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