Factors influencing reduced penetrance and variable expressivity in X-linked dystonia-parkinsonism

Jelena Pozojevic, Björn Hergen Von Holt, Ana Westenberger*

*Korrespondierende/r Autor/-in für diese Arbeit


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.

ZeitschriftMedizinische Genetik
Seiten (von - bis)97-102
PublikationsstatusVeröffentlicht - 01.06.2022


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