Results 11 to 20 of about 15,463 (269)
Nature Reviews Disease Primers, 2019 The spinocerebellar ataxias (SCAs) are a genetically heterogeneous group of autosomal dominantly inherited progressive disorders, the clinical hallmark of which is loss of balance and coordination accompanied by slurred speech; onset is most often in adult life. Genetically, SCAs are grouped as repeat expansion SCAs, such as SCA3/Machado-Joseph disease
Klockgether, Thomas +2 more
exaly +9 more sources
Spinocerebellar ataxias: genotype-phenotype correlations in 104 Brazilian families
Clinics, 2012 OBJECTIVE: Spinocerebellar ataxias are neurodegenerative disorders involving the cerebellum and its connections. There are more than 30 distinct subtypes, 16 of which are associated with an identified gene.
Hélio A. G. Teive +6 more
doaj +3 more sources
Lower urinary tract and bowel dysfunction in spinocerebellar ataxias [PDF]
Annals of Clinical and Translational Neurology, 2021 Background Little information is available in spinocerebellar ataxias (SCAs) regarding pelvic organ symptoms. The aim of this study was to characterize the lower urinary tract (LUT) and bowel dysfunction in autosomal dominant spinocerebellar ataxias ...
Joana Afonso Ribeiro +8 more
doaj +2 more sources
Muscle cramps profile among spinocerebellar ataxias [PDF]
Annals of Indian Academy of Neurology, 2022 Gustavo Leite Franklin +6 more
doaj +2 more sources
Endurance exercise ameliorates phenotypes in Drosophila models of spinocerebellar ataxias. [PDF]
Elife, 2022 Sujkowski A +4 more
europepmc +2 more sources
Ophthalmology, 2017 Recent work has demonstrated the importance of miRNAs in the pathogenesis of various brain disorders including the neurodegenerative disorder spinocerebellar ataxia (SCA). This review focuses on the role of miRNAs in the shared pathogenesis of the different SCA types.
Scott Wentz, Denis Jusufbegovic
openaire +4 more sources
Biomedicines, 2021 Polyglutamine (polyQ) ataxias are a heterogenous group of neurological disorders all caused by an expanded CAG trinucleotide repeat located in the coding region of each unique causative gene.
Craig S. McIntosh +3 more
doaj +1 more source
Hereditary ataxias: spinocerebellar ataxia type 2 (clinical case)
Актуальные проблемы теоретической и клинической медицины, 2022 This article will present a clinical case of a patient with hereditary spinocerebellar ataxia type 2 (SCA-type 2). Spinocerebellar ataxia is a group of hereditary progressive cerebellar ataxias, numbering over 40 subspecies, manifested in the form of ...
I. Em
doaj +1 more source
Current and emerging treatment modalities for spinocerebellar ataxias. [PDF]
Expert Rev Neurother, 2022 Ghanekar SD +3 more
europepmc +2 more sources
Rehabilitation in patients with cerebellar ataxias
Arquivos de Neuro-Psiquiatria, 2022 Cerebellar ataxias comprise a heterogeneous group of diseases characterized by motor and non-motor symptoms, which can be acquired, degenerative, or have a genetic cause, such as spinocerebellar ataxias (SCA).
Hsin Fen Chien +7 more
doaj +1 more source