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Article

Atrophin-1 Function and Dysfunction in Dentatorubral-Pallidoluysian Atrophy.

Movement disorders : official journal of the Movement Disorder Society - 1 Apr 2023

Nowak Bartosz, Kozlowska Emilia, Pawlik Weronika, Fiszer Agnieszka

Abstract excerpt

Dentatorubral-pallidoluysian atrophy (DRPLA) is a rare, incurable genetic disease that belongs to the group of polyglutamine (polyQ) diseases. DRPLA is the most common in the Japanese population; however, its global prevalence is also increasing due to better clinical recognition. It is characterized by cerebellar ataxia, myoclonus, epilepsy, dementia, and chorea. DRPLA is caused by dynamic mutation of CAG repeat...

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PMID: 36809552
DOI: 10.1002/mds.29355

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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Atrophin-1 Function and Dysfunction in Dentatorubral-Pallidoluysian Atrophy.PMID 36809552Read ↗

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Clinical and genetic characteristics of non-Asian dentatorubral-pallidoluysian atrophy: A systematic review.Semantic proximity Read ↗

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