Journal Article

DZNE-2020-06993

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png Spinocerebellar ataxia.

Klockgether, T. (First author)DZNE* ; Mariotti, C. ; Paulson, H. L.

2019
Nature Publishing Group Basingstoke

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Please use a persistent id in citations: doi:10.1038/s41572-019-0074-3

Abstract: 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 (MJD), and rare SCAs that are caused by non-repeat mutations, such as SCA5. Most SCA mutations cause prominent damage to cerebellar Purkinje neurons with consecutive cerebellar atrophy, although Purkinje neurons are only mildly affected in some SCAs. Furthermore, other parts of the nervous system, such as the spinal cord, basal ganglia and pontine nuclei in the brainstem, can be involved. As there is currently no treatment to slow or halt SCAs (many SCAs lead to premature death), the clinical care of patients with SCA focuses on managing the symptoms through physiotherapy, occupational therapy and speech therapy. Intense research has greatly expanded our understanding of the pathobiology of many SCAs, revealing that they occur via interrelated mechanisms (including proteotoxicity, RNA toxicity and ion channel dysfunction), and has led to the identification of new targets for treatment development. However, the development of effective therapies is hampered by the heterogeneity of the SCAs; specific therapeutic approaches may be required for each disease.

Keyword(s): Age Factors (MeSH) ; Disease Progression (MeSH) ; Humans (MeSH) ; Mass Screening: methods (MeSH) ; Neuroprotective Agents: therapeutic use (MeSH) ; Postural Balance: physiology (MeSH) ; Riluzole: therapeutic use (MeSH) ; Speech Disorders: etiology (MeSH) ; Spinocerebellar Ataxias: diagnosis (MeSH) ; Spinocerebellar Ataxias: epidemiology (MeSH) ; Spinocerebellar Ataxias: therapy (MeSH) ; Neuroprotective Agents ; Riluzole

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Contributing Institute(s):

1. Patient Studies (Bonn) (Patient Studies (Bonn))

Research Program(s):

1. 344 - Clinical and Health Care Research (POF3-344) (POF3-344)

Appears in the scientific report 2019

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Database coverage:
; Clarivate Analytics Master Journal List ; Current Contents - Clinical Medicine ; IF >= 60 ; JCR ; SCOPUS ; Web of Science Core Collection

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