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Open Access Green as soon as Postprint is submitted to ZB.
The rare and the common: An Austrian DRPLA family harboring the European haplotype.
Parkinsonism Relat. Disord. 87, 119-121 (2021)
Dentatorubral-pallidoluysian atrophy (DRPLA) is a CAG trinucleotide repeat expansion disorder with an autosomal-dominant mode of inheritance and very low prevalence in Europe. We herein report the clinical characteristics of the first Austrian DRPLA family. Genetic analysis revealed the presence of a common European haplotype, suggesting a founder mutation in Europe.
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Publication type
Article: Journal article
Document type
Scientific Article
Keywords
Ataxia ; Drpla ; Dentatorubral-pallidoluysian Atrophy ; Epilepsy ; Founder Mutation ; Haplotype; Atrophy
Language
english
Publication Year
2021
HGF-reported in Year
2021
ISSN (print) / ISBN
1353-8020
e-ISSN
1873-5126
Journal
Parkinsonism & Related Disorders
Quellenangaben
Volume: 87,
Pages: 119-121
Publisher
Elsevier
Publishing Place
The Boulevard, Langford Lane, Kidlington, Oxford Ox5 1gb, Oxon, England
Reviewing status
Peer reviewed
Institute(s)
Institute of Neurogenomics (ING)
CF Genomics (CF-GEN)
CF Genomics (CF-GEN)
POF-Topic(s)
30205 - Bioengineering and Digital Health
30501 - Systemic Analysis of Genetic and Environmental Factors that Impact Health
30501 - Systemic Analysis of Genetic and Environmental Factors that Impact Health
Research field(s)
Genetics and Epidemiology
PSP Element(s)
G-503200-001
A-632700-001
A-632700-001
WOS ID
WOS:000668350200022
Scopus ID
85106338043
PubMed ID
34022586
Erfassungsdatum
2021-06-28