X-linked dystonia-parkinsonism: over and above a repeat disorder-Reference-Cited by-同舟云学术

X-linked dystonia-parkinsonism: over and above a repeat disorder

Published:2021-12-01 Issue:4 Volume:33 Page:319-324
ISSN:1863-5490
Container-title:Medizinische Genetik
language:en
Short-container-title:

Author:

Pozojevic Jelena¹²,Cruz Joseph Neos¹³,Westenberger Ana¹

Affiliation:

1. Institute of Neurogenetics , University of Lübeck , Lübeck , Germany

2. Institute of Human Genetics , University of Lübeck , Lübeck , Germany

3. Disease Molecular Biology and Epigenetics Laboratory , University of the Philippines Diliman , Quezon City , Philippines

Abstract

Abstract X-linked dystonia-parkinsonism (XDP) is an adult-onset neurodegenerative movement disorder, caused by a founder retrotransposon insertion in an intron of the TAF1 gene. This insertion contains a polymorphic hexanucleotide repeat (CCCTCT)n, the length of which inversely correlates with the age at disease onset (AAO) and other clinical parameters, aligning XDP with repeat expansion disorders. Nevertheless, many other pathogenic mechanisms are conceivably at play in XDP, indicating that in contrast to other repeat disorders, the (CCCTCT)n repeat may not be the actual (or only) disease cause. Here, we summarize and discuss genetic and molecular aspects of XDP, highlighting the role of the hexanucleotide repeat in age-related disease penetrance and expressivity.

Funder

University of Lübeck

Deutsche Forschungsgemeinschaft

Publisher

Walter de Gruyter GmbH

Subject

Genetics (clinical),Genetics

Link

https://www.degruyter.com/document/doi/10.1515/medgen-2021-2105/pdf

Reference37 articles.

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