Results 31 to 40 of about 7,196 (214)
Phenotype variability and early onset ataxia symptoms in spinocerebellar ataxia type 7: comparison and correlation with other spinocerebellar ataxias [PDF]
Arquivos de Neuro-Psiquiatria, 2015 The spinocerebellar ataxias (SCA) are a group of neurodegenerative disorders characterized by heterogeneous clinical presentation. Spinocerebellar ataxia type 7 (SCA7) is caused by an abnormal CAG repeat expansion ...
Marcus Vinicius Cristino de Albuquerque +3 more
doaj +2 more sources
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
openaire +5 more sources
Current and emerging treatment modalities for spinocerebellar ataxias [PDF]
Expert Review of Neurotherapeutics, 2022 Sheng-Han Kuo
exaly +2 more sources
A Review of Spinocerebellar Ataxias in Taiwan
Acta Neurologica TaiwanicaSpinocerebellar ataxias (SCAs) are a group of neurodegenerative diseases characterized by inherited progressive cerebellar ataxia with or without other associated features. The clinical presentations of these affected SCA patients are very heterogeneous.
Chia-Ju Lee +2 more
doaj +3 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
Spinocerebellar ataxia type 14 (SCA14) in an Argentinian family: a case report
Journal of Medical Case Reports, 2023 Background Hereditary spinocerebellar ataxias are a group of genetic neurological disorders that result in degeneration of the cerebellum and brainstem, leading to difficulty in controlling balance and muscle coordination.
Niharika Duggirala +4 more
doaj +1 more source
Spinocerebellar ataxias (SCAs) caused by common mutations. [PDF]
Neurogenetics, 2021 The term SCA refers to a phenotypically and genetically heterogeneous group of autosomal dominant spinocerebellar ataxias. Phenotypically they present as gait ataxia frequently in combination with dysarthria and oculomotor problems.
Müller U.
europepmc +2 more sources
PLD3 and spinocerebellar ataxia [PDF]
Brain, 2018 sponsorship: Funding was provided by the Alzheimer Forschung Initiative e.V. (M.D.) and the Deutsche Forschungsgemeinschaft (GRK 1459) (P.S.). AC.G. is supported by the Hans & Ilse Breuer foundation. D.M. is supported by National Institutes of Health (NIH) grant R21AI126011. (Alzheimer Forschung Initiative e.V., Deutsche Forschungsgemeinschaft|GRK 1459,
Gonzalez, Adriana Carolina +8 more
openaire +4 more sources