Home > Publications Database > Spinocerebellar ataxia. > print

001     140671
005     20251028085044.0
024 7 _ |a 10.1038/s41572-019-0074-3
|2 doi
024 7 _ |a pmid:30975995
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024 7 _ |a altmetric:58862792
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037 _ _ |a DZNE-2020-06993
041 _ _ |a English
082 _ _ |a 610
100 1 _ |a Klockgether, Thomas
|0 P:(DE-2719)2810314
|b 0
|e First author
|u dzne
245 _ _ |a Spinocerebellar ataxia.
260 _ _ |a Basingstoke
|c 2019
|b Nature Publishing Group
264 _ 1 |3 online
|2 Crossref
|b Springer Science and Business Media LLC
|c 2019-04-11
264 _ 1 |3 print
|2 Crossref
|b Springer Science and Business Media LLC
|c 2019-12-01
336 7 _ |a article
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336 7 _ |a Output Types/Journal article
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336 7 _ |a Journal Article
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336 7 _ |a ARTICLE
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336 7 _ |a Journal Article
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520 _ _ |a 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.
536 _ _ |a 344 - Clinical and Health Care Research (POF3-344)
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542 _ _ |i 2019-04-11
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588 _ _ |a Dataset connected to CrossRef, PubMed,
650 _ 7 |a Neuroprotective Agents
|2 NLM Chemicals
650 _ 7 |a Riluzole
|0 7LJ087RS6F
|2 NLM Chemicals
650 _ 2 |a Age Factors
|2 MeSH
650 _ 2 |a Disease Progression
|2 MeSH
650 _ 2 |a Humans
|2 MeSH
650 _ 2 |a Mass Screening: methods
|2 MeSH
650 _ 2 |a Neuroprotective Agents: therapeutic use
|2 MeSH
650 _ 2 |a Postural Balance: physiology
|2 MeSH
650 _ 2 |a Riluzole: therapeutic use
|2 MeSH
650 _ 2 |a Speech Disorders: etiology
|2 MeSH
650 _ 2 |a Spinocerebellar Ataxias: diagnosis
|2 MeSH
650 _ 2 |a Spinocerebellar Ataxias: epidemiology
|2 MeSH
650 _ 2 |a Spinocerebellar Ataxias: therapy
|2 MeSH
700 1 _ |a Mariotti, Caterina
|b 1
700 1 _ |a Paulson, Henry L
|b 2
773 1 8 |a 10.1038/s41572-019-0074-3
|b : Springer Science and Business Media LLC, 2019-04-11
|n 1
|p 24
|3 journal-article
|2 Crossref
|t Nature Reviews Disease Primers
|v 5
|y 2019
|x 2056-676X
773 _ _ |a 10.1038/s41572-019-0074-3
|g Vol. 5, no. 1, p. 24
|0 PERI:(DE-600)2819522-X
|n 1
|q 5:1<24
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|t Nature reviews / Disease Primers
|v 5
|y 2019
|x 2056-676X
856 4 _ |u https://pub.dzne.de/record/140671/files/DZNE-2020-06993_Restricted.pdf
856 4 _ |u https://pub.dzne.de/record/140671/files/DZNE-2020-06993_Restricted.pdf?subformat=pdfa
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909 C O |p VDB
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910 1 _ |a Deutsches Zentrum für Neurodegenerative Erkrankungen
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913 1 _ |a DE-HGF
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999 C 5 |9 -- missing cx lookup --
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999 C 5 |9 -- missing cx lookup --
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999 C 5 |9 -- missing cx lookup --
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999 C 5 |9 -- missing cx lookup --
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999 C 5 |9 -- missing cx lookup --
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999 C 5 |9 -- missing cx lookup --
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999 C 5 |9 -- missing cx lookup --
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999 C 5 |9 -- missing cx lookup --
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999 C 5 |9 -- missing cx lookup --
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999 C 5 |9 -- missing cx lookup --
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999 C 5 |9 -- missing cx lookup --
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999 C 5 |9 -- missing cx lookup --
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999 C 5 |9 -- missing cx lookup --
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999 C 5 |9 -- missing cx lookup --
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999 C 5 |9 -- missing cx lookup --
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999 C 5 |9 -- missing cx lookup --
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999 C 5 |9 -- missing cx lookup --
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999 C 5 |9 -- missing cx lookup --
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999 C 5 |9 -- missing cx lookup --
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999 C 5 |9 -- missing cx lookup --
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999 C 5 |9 -- missing cx lookup --
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999 C 5 |9 -- missing cx lookup --
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999 C 5 |9 -- missing cx lookup --
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999 C 5 |y 1987
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LibraryCollectionCLSMajorCLSMinorLanguageAuthor
Marc 21