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Article

Clinical, genetic, and brain sonographic features related to Parkinson's disease in Gaucher disease.

Journal of neurology - 1 Oct 2013

Böttcher Tobias, Rolfs Arndt, Meyer Bianca, Grossmann Annette, Berg Daniela, Kropp Peter, Benecke Reiner, Walter Uwe

Abstract excerpt

Homozygous or compound heterozygous mutations in the glucocerebrosidase gene cause Gaucher disease. Moreover, heterozygous glucocerebrosidase gene mutations represent the most common genetic risk factor for Parkinson's disease (PD) known so far. Substantia nigra (SN) hyperechogenicity, a sonographic feature thought to reflect iron accumulation, has been described in both PD and Gaucher disease patients. Here we...

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Identifiers

PMID: 23811968
DOI: 10.1007/s00415-013-7011-2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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