Factors influencing reduced penetrance and variable expressivity in X-linked dystonia-parkinsonism
Abstract: X-linked dystonia-parkinsonism (XDP) is a neurodegenerative movement disorder that primarily affects adult Filipino men. It is caused by a founder retrotransposon insertion in TAF1 that contains a hexanucleotide repeat, the number of which differs among the patients and correlates with the age at disease onset (AAO) and other clinical parameters. A recent work has identified additional genetic modifiers of age-associated penetrance in XDP, bringing to light the DNA mismatch repair genes MSH3 and PMS2. Despite X-linked recessive inheritance, a minor subset of patients are female, manifesting the disease via various mechanisms such as homozygosity, imbalanced X-chromosome inactivation, or aneuploidy. Here, we summarize and discuss clinical and genetic aspects of XDP, with a focus on variable disease expressivity as a consequence of subtle genetic differences within a seemingly homogenous population of patients.
- Standort
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Deutsche Nationalbibliothek Frankfurt am Main
- Umfang
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Online-Ressource
- Sprache
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Englisch
- Erschienen in
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Factors influencing reduced penetrance and variable expressivity in X-linked dystonia-parkinsonism ; volume:34 ; number:2 ; year:2022 ; pages:97-102 ; extent:6
Medizinische Genetik ; 34, Heft 2 (2022), 97-102 (gesamt 6)
- Urheber
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Pozojevic, Jelena
von Holt, Björn-Hergen
Westenberger, Ana
- DOI
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10.1515/medgen-2022-2135
- URN
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urn:nbn:de:101:1-2022081214054347724286
- Rechteinformation
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Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Letzte Aktualisierung
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15.08.2025, 07:21 MESZ
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Beteiligte
- Pozojevic, Jelena
- von Holt, Björn-Hergen
- Westenberger, Ana
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