Generalized chorea, cerebellar ataxia and spastic tetraparesis with a genetic mutation in FAT2 gene – coincidence or a new SCA45 phenotype?
Objective: To present what might be a new phenotype of spinocerebellar ataxia type 45. Background: Spinocerebellar ataxias (SCAs) are a heterogeneous group of autosomal dominant,…Association of Early and late age of onset with Mitochondrial DNA haplogroup in Indian Spinocerebellar Ataxia type- 2 patients.
Objective: To explore the role of mtHaplogroups in early and late onset SCA2 patients. Background: An unstable expansion of a CAG tract in the ATXN2…Presence of neuropathy in most frequent hereditary cerebellar ataxia SCA1, SCA2 and FRDA in Serbian population
Objective: The aim of our study is to determine the frequency and pattern of neuropathy in patients with the most frequent hereditary ataxias in Serbian…Learnings from inaugural year of foundation sponsored genetic counseling and testing program for Spinocerebellar Ataxia (SCA) types 1, 2, and 3
Objective: To describe volume, genetic results, and participant perceptions of foundation sponsored genetic counseling and testing program for SCA 1, 2, and 3. Background: Molecular…The phenotypic spectrum and assessment of severity in patients of Spinocerebellar Ataxia-12.
Objective: To describe clinical phenotype, manifestations, and assess tremor severity using standard rating scale in genetically confirmed patients with SCA12. Background: Spinocerebellar Ataxia-12 (SCA12) occurs…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,…Brain functional state mapping in resting state and network alteration in Spinocerebellar Ataxia Type 2 in comparison with healthy controls
Objective: The aim of this study is to map the brain functional network alterations by estimating functional connectivity of brain structures in spinocerebellar ataxia type 2.…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:…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…SpeechATAX: A rater blinded randomized controlled trial of intensive home-based biofeedback therapy for dysarthria in progressive ataxia
Objective: To investigate the effectiveness of a digitized intensive home-based speech rehabilitation, SpeechATAX, in people with progressive hereditary ataxia. Background: The loss of the ability…
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