Results 91 to 100 of about 114,557 (289)
Spinocerebellar ataxia type 10 in the South of Brazil: the Amerindian-Belgian connection
Arquivos de Neuro-Psiquiatria, 2015 Spinocerebellar ataxia type 10 (SCA10) is a rare form of autosomal dominant ataxia found predominantly in patients from Latin America with Amerindian ancestry.
Hélio Afonso Ghizoni Teive +8 more
doaj +1 more source
Non\u2011syndromic isolated dominant optic atrophy caused by the p.R468C mutation in the AFG3 like matrix AAA peptidase subunit 2 gene [PDF]
, 2017 Autosomal dominant optic atrophy (DOA) is the most frequent form of hereditary optic atrophy, a disease presenting with considerable inter- and intra-familial clinical variability.
Colavito, Davide +9 more
core +1 more source
Complexity of the Genetics and Clinical Presentation of Spinocerebellar Ataxia 17
Frontiers in Cellular Neuroscience, 2018 Spinocerebellar ataxia type 17 (SCA17) is a rare autosomal dominant neurodegenerative disease caused by a CAG repeat expansion in the TATA-box binding protein gene (TBP). The disease has a varied age at onset and clinical presentation.
Suran Nethisinghe +21 more
semanticscholar +1 more source
Movement Disorders Clinical Practice, EarlyView.Abstract Background As advanced molecular testing is incorporated into routine clinical practice, accessibility and yield remain limited. Objectives We propose a simplified and effective workup strategy to maximize diagnostic yield based on presented diagnostic yield of rare movement disorders at a tertiary Neurogenetics Clinic.
Dvir Penn +23 more
wiley +1 more source
Paraneoplastic cerebellar degeneration associated with lymphoepithelial carcinoma of the tonsil [PDF]
, 2013 Background: Paraneoplastic cerebellar degeneration (PCD) is a classical tumor-associated, immune-mediated disease typically associated with gynecological malignancies, small-cell lung-cancer or lymphoma.
Hartmann, Sylvia +5 more
core +1 more source
Frontiers in Neurology, 2019 Spinocerebellar ataxia (SCA) is a neurodegenerative disorder caused by dysfunction of the cerebellum and its connected neural networks. There is currently no cure for SCA and symptomatic treatment remains limited.
B. Manor +5 more
semanticscholar +1 more source
Cognitive Changes in Pre‐ataxic Spinocerebellar Ataxias: A Scoping Review
Movement Disorders Clinical Practice, EarlyView.Abstract Background Although traditionally recognized for motor impairment, evidence suggests that cognitive deficits may emerge before ataxia onset in autosomal dominant spinocerebellar ataxias (SCA), particularly in nucleotide repeat expansion SCAs (NRE‐SCAs).
Renata Barreto Tenorio +3 more
wiley +1 more source
Epilepsy and Spinocerebellar Ataxia
Pediatric Neurology Briefs, 2007 A large consanguinous family from Saudi Arabia with 4 affected children presenting with an autosomal recessive ataxia, generalized tonic-clonic epilepsy and mental retardation is reported from the Institut de Genetique, Universite Louis Pasteur, Illkirch,
J Gordon Millichap
doaj +1 more source
A targeted gene panel that covers coding, non-coding and short tandem repeat regions improves the diagnosis of patients with neurodegenerative diseases [PDF]
, 2019 Genetic testing for neurodegenerative diseases (NDs) is highly challenging because of genetic heterogeneity and overlapping manifestations. Targeted-gene panels (TGPs), coupled with next-generation sequencing (NGS), can facilitate the profiling of a ...
Au, Wing Chi +11 more
core +1 more source
Action perception recruits the cerebellum and is impaired in patients with spinocerebellar ataxia
Brain : a journal of neurology, 2019 Using a combination of neuroimaging and behavioural studies, Abdelgabar et al. show that the cerebellum helps us perceive the actions of others. Disorders such as spinocerebellar ataxia type 6, which disrupt cerebellar functioning, impair our ability to ...
Abdel R Abdelgabar +7 more
semanticscholar +1 more source