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Articles

Early-onset parkinsonism as a presenting feature of suspected type 1 Gaucher disease with two pathogenic GBA1 variants: a case report

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By Yuqin Sun, Ruihan Ni, Yunli Yu
| Frontiers
Abstract Parkinson's disease (PD) is a common neurodegenerative disorder, and pathogenic variants in GBA1 are among its most frequent genetic risk factors. Biallelic pathogenic GBA1 variants cause Gaucher Disease (GD). In patients with parkinsonism and two detected GBA1 variants, the absence of biochemical confirmation and allele phasing may make it difficult to determine whether the neurological presentation occurs in the context of GD or represents GBA1-associated PD.
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