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Article

Autosomal-dominant striatal degeneration is caused by a mutation in the phosphodiesterase 8B gene.

American journal of human genetics - 1 Jan 2010

Appenzeller Silke, Schirmacher Anja, Halfter Hartmut, Bäumer Sebastian, Pendziwiat Manuela, Timmerman Vincent, De Jonghe Peter, Fekete Klára, Stögbauer Florian, Lüdemann Peter, Hund Margret, Quabius Elgar Susanne, Ringelstein E Bernd, Kuhlenbäumer Gregor

Abstract excerpt

Autosomal-dominant striatal degeneration (ADSD) is an autosomal-dominant movement disorder affecting the striatal part of the basal ganglia. ADSD is characterized by bradykinesia, dysarthria, and muscle rigidity. These symptoms resemble idiopathic Parkinson disease, but tremor is not present. Usi...

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Identifiers

PMID: 20085714
DOI: 10.1016/j.ajhg.2009.12.003
PMCID: PMC2801755

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-20085714-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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