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Article

Expanding the Spectrum of GBA1-Associated Neurodegenerative Diseases in an Italian Family.

Movement disorders clinical practice - 1 Aug 2024

Sorrentino Cristiano, Dati Giovanna, Cuoco Sofia, Barone Paolo, Pellecchia Maria Teresa

Abstract excerpt

BACKGROUND: Heterozygous mutations in GBA1 gene are known as most common genetic risk factor for Parkinson's disease (PD). However, role of GBA1 mutations in non-α-synuclein disorders is unclear. CASES: Case index, 76 year-old woman referred to our movement disorders outpatient clinic for 2-year history of gait impairment, falls and motor slowness, with partial response to levodopa. Clinical and instrumental...

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Identifiers

PMID: 38881158
DOI: 10.1002/mdc3.14146
PMCID: PMC11329572

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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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