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Titel:

AOPEP variants as a novel cause of recessive dystonia: Generalized dystonia and dystonia-parkinsonism.

Dokumenttyp:
Journal Article
Autor(en):
Garavaglia, Barbara; Vallian, Sadeq; Romito, Luigi M; Straccia, Giulia; Capecci, Marianna; Invernizzi, Federica; Andrenelli, Elisa; Kazemi, Arezu; Boesch, Sylvia; Kopajtich, Robert; Olfati, Nahid; Shariati, Mohammad; Shoeibi, Ali; Sadr-Nabavi, Ariane; Prokisch, Holger; Winkelmann, Juliane; Zech, Michael
Abstract:
INTRODUCTION: The genetic basis of autosomal-recessive dystonia remains poorly understood. Our objective was to report identification of additional individuals with variants in AOPEP, a recently described gene for recessively inherited dystonic disorders (OMIM:619565). METHODS: Ongoing analysis on a high-throughput genetic platform and international case-recruitment efforts were undertaken. RESULTS: Novel biallelic, likely pathogenic loss-of-function alleles were identified in two pedigrees of d...     »
Zeitschriftentitel:
Parkinsonism Relat Disord
Jahr:
2022
Band / Volume:
97
Seitenangaben Beitrag:
52-56
Volltext / DOI:
doi:10.1016/j.parkreldis.2022.03.007
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/35306330
Print-ISSN:
1353-8020
TUM Einrichtung:
Lehrstuhl für Neurogenetik (N.N.)
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