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Obayashi, M.* ; Stevanin, G.* ; Synofzik, M.* ; Monin, M.L.* ; Duyckaerts, C.* ; Sato, N.* ; Streichenberger, N.* ; Vighetto, A.* ; Desestret, V.* ; Tesson, C.* ; Wichmann, H.-E. ; Illig, T. ; Huttenlocher, J.* ; Kita, Y.* ; Izumi, Y.* ; Mizusawa, H.* ; Schöls, L.* ; Klopstock, T.* ; Brice, A.* ; Ishikawa, K.* ; Dürr, A.*

Spinocerebellar ataxia type 36 exists in diverse populations and can be caused by a short hexanucleotide GGCCTG repeat expansion.

J. Neurol. Neurosurg. Psychiatr. 86, 986-995 (2015)
DOI PMC
Open Access Green as soon as Postprint is submitted to ZB.
OBJECTIVE: Spinocerebellar ataxia 36 (SCA36) is an autosomal-dominant neurodegenerative disorder caused by a large (>650) hexanucleotide GGCCTG repeat expansion in the first intron of the NOP56 gene. The aim of this study is to clarify the prevalence, clinical and genetic features of SCA36. METHODS: The expansion was tested in 676 unrelated SCA index cases and 727 controls from France, Germany and Japan. Clinical and neuropathological features were investigated in available family members. RESULTS: Normal alleles ranged between 5 and 14 hexanucleotide repeats. Expansions were detected in 12 families in France (prevalence: 1.9% of all French SCAs) including one family each with Spanish, Portuguese or Chinese ancestry, in five families in Japan (1.5% of all Japanese SCAs), but were absent in German patients. All the 17 SCA36 families shared one common haplotype for a 7.5 kb pairs region flanking the expansion. While 27 individuals had typically long expansions, three affected individuals harboured small hexanucleotide expansions of 25, 30 and 31 hexanucleotide repeat-units, demonstrating that such a small expansion could cause the disease. All patients showed slowly progressive cerebellar ataxia frequently accompanied by hearing and cognitive impairments, tremor, ptosis and reduced vibration sense, with the age at onset ranging between 39 and 65 years, and clinical features were indistinguishable between individuals with short and typically long expansions. Neuropathology in a presymptomatic case disclosed that Purkinje cells and hypoglossal neurons are affected. CONCLUSIONS: SCA36 is rare with a worldwide distribution. It can be caused by a short GGCCTG expansion and associates various extracerebellar symptoms.
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Publication type Article: Journal article
Document type Scientific Article
Keywords Cerebellar Ataxia ; Clinical Neurology ; Neuroepidemiology ; Neurogenetics; Amyotrophic-lateral-sclerosis; Motor-neuron Involvement; Ggggcc Repeat; Rna Foci; C9orf72; Translation; Disease; Neuropathology; Instability; Origin
Language english
Publication Year 2015
Prepublished in Year 2014
HGF-reported in Year 2014
ISSN (print) / ISBN 0022-3050
e-ISSN 1468-330X
Journal Journal of Neurology, Neurosurgery, and Psychiatry
Quellenangaben Volume: 86, Issue: 9, Pages: 986-995 Article Number: , Supplement: ,
Publisher BMJ Publishing Group
Publishing Place London
Reviewing status Peer reviewed
Institute(s) Institute of Epidemiology (EPI)
POF-Topic(s) 30503 - Chronic Diseases of the Lung and Allergies
30202 - Environmental Health
Research field(s) Genetics and Epidemiology
PSP Element(s) G-503900-001
G-504091-001
G-504000-007
PubMed ID 25476002
DOI 10.1136/jnnp-2014-309153
WOS ID WOS:000359487500074
Scopus ID 84940641722
Scopus ID 84922741472
Erfassungsdatum 2014-12-07
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