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- W4224997465 abstract "Materials & methods: Herein, we are reporting a 31-year-old man diagnosed with Parkinson’s disease (PD) without evidence of family co-segregation. Analysis across the PD loci was carried out followed by whole-exome sequencing. Results: We identified a novel heterozygous WASHC5 variant, c.775T >C p. (Tyr259His) segregating with PD. WASHC5 or strumpellin has previously been identified in autosomal dominant disorder hereditary spastic paraplegia type 8 (HSP8). Conclusion: We present clinical, genetic and physiopathological data supporting a relevant role of c.775T >C p. (Tyr259His) variant in early-onset PD. One can hypothesizes a model wherein the clinical continuum of strumpellin-associated neurological syndromes share common pathways based on endo-lysosomal trafficking dysfunction. This novel mutation extends the spectrum of WASHC5 gene mutations and supports the allelic heterogeneity of PD." @default.
- W4224997465 created "2022-04-28" @default.
- W4224997465 creator A5081955024 @default.
- W4224997465 date "2022-03-01" @default.
- W4224997465 modified "2023-09-25" @default.
- W4224997465 title "<i>WASHC5</i> mutation extends the genotypic heterogeneity in early-onset Parkinson’s disease" @default.
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- W4224997465 doi "https://doi.org/10.2217/fnl-2021-0009" @default.
- W4224997465 hasPublicationYear "2022" @default.
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