Corticobasal syndrome in a man with Gaucher disease type 1: Expansion of the understanding of the neurological spectrum.

Published online

Journal Article

Gaucher disease (GD) is an autosomal recessive condition that results from a deficiency of the enzyme β-glucocerebrosidase. The increased risk of primary parkinsonism symptoms among individuals affected with GD and carriers for the disorder is well-documented in the literature. However, these risks and case reports often reflect patients with classical Parkinson's disease (PD) symptoms. We report a patient with GD type 1 who was diagnosed with corticobasal syndrome (CBS), a clinical atypical parkinsonism diagnosis, in his sixth decade of life. Our case highlights the need to consider forms of atypical parkinsonism such as CBS in addition to PD in the differential diagnosis of cognitive and motor changes in patients with GD type 1. We also recommend careful assessment and routine monitoring of cognition, mood, behavior, sleep patterns, olfaction, and memory in patients with GD type 1 to identify early symptoms indicative of neurological involvement.

Full Text

Duke Authors

Cited Authors

  • Potnis, KC; Flueckinger, LB; DeArmey, SM; Alcalay, RN; Cooney, JW; Kishnani, PS

Published Date

  • December 2018

Published In

Volume / Issue

  • 17 /

Start / End Page

  • 69 - 72

PubMed ID

  • 30364808

Pubmed Central ID

  • 30364808

International Standard Serial Number (ISSN)

  • 2214-4269

Digital Object Identifier (DOI)

  • 10.1016/j.ymgmr.2018.10.001


  • eng

Conference Location

  • United States