Home
Deutsch
Advanced Search
Browse by ...
Publication overview
Contact persons
Help
DOI
PMC
 |
|
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.
Altmetric
Additional Metrics?
Edit extra informations
Login
Publication type
Article: Journal article
Document type
Scientific Article
Keywords
Ataxia ; Drpla ; Dentatorubral-pallidoluysian Atrophy ; Epilepsy ; Founder Mutation ; Haplotype; Atrophy
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
Non-patent literature
Publications
Reviewing status
Peer reviewed
Institute(s)
Institute of Neurogenomics (ING)
CF Genomics (CF-GEN)
CF Genomics (CF-GEN)