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Prodromal substantia nigra sonography undermines suggested association between substrate accumulation and the risk for GBA-related Parkinson's disease.

著者 Arkadir D , Dinur T , Becker Cohen M , Revel-Vilk S , Tiomkin M , Brüggemann N , Cozma C , Rolfs A , Zimran A
Eur J Neurol.2019 Feb 03 ; ():.
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Individuals with GBA (glucocerebrosidase) mutations are at increased risk of Parkinson's disease (PD). It is still debated, however, whether this increased risk results from impaired glucocerebrosidase activity leading to substrate accumulation. Comparing the presence of prodromal PD marker in GBA mutation carriers and in Gaucher patients (in which substrate accumulation is extensive) can assist in clarifying this issue.
PMID: 30714262 [PubMed - as supplied by publisher]
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