Clinical spectrum, imaging characteristics and care giver burden assessment of early onset non-dominant progressive cerebellar ataxias
Objective: To characterise the phenotypic and radiological spectrum of patients with early onset non-dominant progressive cerebellar ataxias and to assess the impact of the disease…A Peruvian family with neurodegeneration with ataxia, dystonia and gaze palsy, childhood-onset (NADGP): A case report
Objective: To describe the clinical features of three affected siblings with NADGP Background: Neurodegeneration with ataxia, dystonia and gaze palsy, childhood-onset (NADGP), is an autosomal…Cervical Dystonic Tremor: A Characteristic Feature Of Ataxia With Vitamin E Deficiency
Objective: we aimed to investigate the clinical features of Ataxia with vitamin E deficiency (AVED) patients and compare it with Friedreich ataxia (FRDA) patients. Background:…Clinical, imaging and genetic characteristics from an Indian ARSACS cohort
Objective: Provide insight into SACS mutations in India, by targeted gene panel of a suspected cohort. Background: Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), caused…Reliability and Validity of the Greek Translation of the Scale for Assessment and Rating Ataxia in Ataxic Children
Objective: Translation and Cross-cultural adaptation of the Scale for Assessment and Rating Ataxia (SARA) in Greek ataxic pediatric population. Background: Ataxia in the pediatric population…Mutations of COX20 affect the assembly and function of complex IV causing early onset ataxia, dystonia and neuropathy
Objective: To find the causes of an early onset complex movement disorder in two sisters from a non-consanguineous family, and confirm the COX20 variants responsible for such mitochondrial…Recessive CWF19L1 mutations in a family with dystonia-ataxia syndrome
Objective: To enrich the limited clinical and genetic data of an extremely rare recessive ataxia subtype. Background: Advances in NGS techniques led to an increase…Reclassification of variant c.5825C>T and clinical evidence of variant c.3955_3958dup in a Peruvian family with ATM syndrome
Objective: To describe a Peruvian family carrying variants c.3955_3958dup and c.5825C>T in the ATM gene. Background: Pathogenic variants at ATM gene are associated both, to…Clinical correlation with the Genotype of Friedreich’s Ataxia (FRDA) patients in Indian population
Objective: To describe genotype-phenotype correlation in Indian FRDA patients. Background: Friedreich’s Ataxia(FRDA), an early onset rare autosomal recessive ataxia is caused by bi-allelic loss of…Cardiac involvement in AVED
Objective: Case report Background: Ataxia with vitamin E deficiency (AVED) is an autosomal recessive disorder caused by mutations in the gene encoding the α-tocopherol transport…