Occurrence of Parkinson's syndrome in type 1 Gaucher disease

TLDR

Gaucher disease is the most common glycolipid storage disorder, classified into types based on neurological involvement, with type I traditionally viewed as non‑neuronopathic. The study presents six type I Gaucher disease patients with Parkinsonian symptoms, reviews the literature, and discusses the implications for enzyme replacement therapy. The authors examined six patients with Parkinsonian symptoms and reviewed relevant literature to characterize the syndrome. The atypical Parkinsonian syndrome in type I Gaucher disease is marked by early onset in the 4th–6th decade, rapid progression, and resistance to standard anti‑Parkinson treatments.

Abstract

Gaucher disease, the most prevalent glycolipid storage disorder, is classically subdivided into types according to the presence or absence of neurological involvement. Type I has hitherto been considered non-neuronopathic. We present six cases and a review of the literature of Parkinsonian symptoms in type I Gaucher disease patients. The hallmark of this atypical Parkinsonian syndrome is a relatively severe clinical course with early appearance of neurological signs in the 4th to 6th decade of life, aggressive progression of the signs and refractoriness to conventional anti-Parkinson therapy. We discuss the implications of these findings in the light of enzyme replacement therapy for Gaucher disease.