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Mol Genet Metab Rep. 2018 Oct 18;17:69-72. doi: 10.1016/j.ymgmr.2018.10.001. eCollection 2018 Dec.

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

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Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.
Division of Movement Disorders, Department of Neurology, Columbia University Medical Center, New York City, NY, USA.
Division of Parkinson's Disease and Movement Disorders, Department of Neurology, Duke University Medical Center, Durham, NC, USA.


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.


ACE, angiotensin-converting enzyme; Apraxia; Astereognosis; Atypical parkinsonism; CBS, corticobasal syndrome; CHITO, chitotriosidase; Corticobasal syndrome; DLB, dementia with Lewy bodies; ERT, enzyme replacement therapy; GD, Gaucher disease; Gaucher disease; PD, Parkinson's disease; RBD, rapid eye movement (REM) sleep behavior disorder; Stereoagnosia; TRAP, tartrate-resistant acid phosphatase

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