Results 31 to 40 of about 94,025 (220)

Depression and Clinical Progression in Spinocerebellar Ataxias [PDF]

open access: yesParkinsonism & Related Disorders, 2015
Background Depression is a common comorbidity in spinocerebellar ataxias (SCAs) but its association with ataxia progression is not well understood. Objectives To study the prevalence and influence of depressive symptoms in SCAs.
Raymond Y. Lo   +18 more
semanticscholar   +2 more sources

Muscle cramps profile among spinocerebellar ataxias [PDF]

open access: yesAnnals of Indian Academy of Neurology, 2022
Gustavo Leite Franklin   +6 more
doaj   +2 more sources

Spinocerebellar ataxia [PDF]

open access: yesNature 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

Spinocerebellar Ataxia [PDF]

open access: yesOphthalmology, 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

Polyglutamine Ataxias: Our Current Molecular Understanding and What the Future Holds for Antisense Therapies

open access: yesBiomedicines, 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

Neuropsychiatric symptoms in spinocerebellar ataxias and Friedreich ataxia.

open access: yesNeuroscience and Biobehavioral Reviews, 2023
Apart from its role in motor coordination, the importance of the cerebellum in cognitive and affective processes has been recognized in the past few decades.
Karamazovova Simona   +3 more
semanticscholar   +1 more source

Hereditary ataxias: spinocerebellar ataxia type 2 (clinical case)

open access: yesАктуальные 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

As Frequent as Polyglutamine Spinocerebellar Ataxias: SCA27B in a Large German Autosomal Dominant Ataxia Cohort

open access: yesMovement Disorders, 2023
Intronic GAA repeat expansions in the fi broblast growth factor 14 gene ( FGF14 ) have recently been shown to be a common cause of adult-onset degenerative ataxia (spi-nocerebellar ataxia 27B [SCA27B], MIM: 620174), 1,2 but frequencies in strictly ...
H. Hengel   +8 more
semanticscholar   +1 more source

Rehabilitation in patients with cerebellar ataxias

open access: yesArquivos 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

Spinocerebellar ataxia type 14 (SCA14) in an Argentinian family: a case report

open access: yesJournal 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

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