Non classified SCA-like presentation of GEMIN5 + GYG-1 mutation. Case report
Objective: To report the first case of a patient with GEMIN5 and GYG-1 genes mutations who presented with features of both SCA and myopathy. Background:…Intronic FGF14 GAA repeat expansions are a common cause of ataxia syndromes with neuropathy and bilateral vestibulopathy
Objective: To report on the frequency of intronic GAA expansions in the fibroblast growth factor 14 (FGF14) gene in patients with an unexplained cerebellar ataxia,…Description of a series of GAA-FGF14 ataxia / SCA27b patients
Objective: To describe the main features of a series of 12 patients with GAA-FGF14 ataxia.To describe the main features of a series of 12 patients…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…Extended phenotypes of autosomal recessive cerebellar ataxia type 1: learn from a novel mutation of SYNE1 gene
Objective: Mutations in the synaptic nuclear envelope protein 1 (SYNE1) gene have been reported to cause ARCA type 1 with a remarkable heterogeneity in clinical…The phenotypic landscape and genetic profile of movement disorders in a cohort of tunisian children
Objective: The aim of our study was to report the clinical and genetic features of Tunisian patients with paediatric-onset movement disorders, cerebellar ataxia, and HSP.…Low serum vitamin E in a genetically confirmed Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS)
Objective: To report a case of ARSACS associated with low serum vitamin E. Background: Ataxia with vitamin E deficiency (AVED) presentation varies but usually starts…Clinical and genetic analyses of a Swedish patient series diagnosed with ataxia
Objective: In this study, we aimed to examine clinically and genetically a patient series with ataxia from southern Sweden with known or unknown genetic causes.…Case report on heterozygous OPA3 gene mutation causing ataxia
Objective: To describe a case of adult-onset ataxia with a heterozygous p.Lys10Asn OPA3 mutation. Background: Mutations in the OPA3 gene, which encodes a mitochondrial membrane…TELO2 defect presenting with childhood-onset complex hyperkinetic MD
Objective: Expanding the TELO2-related phenotype by presenting a case with prominent hyperkinetic MD. Background: Telomere maintenance 2 (TELO2), Tel2 interacting protein 2 (TTI2), and Tel2…
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