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…Genetic diagnosis of parkinsonian phenotype of Machado Joseph Diseasep (SCA-3) presenting with dopa induced dyskinesia
Objective: We report a rare type IV parkinsonian phenotype of MJD having a rare genetic mutation. SCA type 3 (SCA3), also known as Machado-Joseph disease…Reticulospinal tract integrity in patients with SCA12 having impairment of Corticospinal tract- a clinical and electrophysiological study
Objective: Estimate the Reticulospinal tract (RST) activity using StartReact paradigm in patients of SCA12 with clinical and electrophysiological evidence of compromised corticospinal tract (CST) integrity. Background: Spinocerebellar…Reaching kinematics in patients with Spinocerebellar Ataxia Type 12 using a markerless motion tracking system
Objective: In the current study, we compared the kinematics of planar reaching movements between patients with Spinocerebellar Ataxia Type 12 (SCA12) and healthy control using…
- « Previous Page
- 1
- …
- 3
- 4
- 5
- 6
- 7
- …
- 16
- Next Page »