Corticobasal syndrome in a man with Gaucher disease type 1: Expansion of the understanding of the neurological spectrum.
Repository Usage Stats
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.
SubjectACE, angiotensin-converting enzyme
CBS, corticobasal syndrome
DLB, dementia with Lewy bodies
ERT, enzyme replacement therapy
GD, Gaucher disease
PD, Parkinson's disease
RBD, rapid eye movement (REM) sleep behavior disorder
TRAP, tartrate-resistant acid phosphatase
Published Version (Please cite this version)10.1016/j.ymgmr.2018.10.001
Publication InfoPotnis, Kunal C; Flueckinger, Lauren B; DeArmey, Stephanie M; Alcalay, Roy N; Cooney, Jeffrey W; & Kishnani, Priya S (2018). Corticobasal syndrome in a man with Gaucher disease type 1: Expansion of the understanding of the neurological spectrum. Molecular Genetics and Metabolism Reports, 17. pp. 69-72. 10.1016/j.ymgmr.2018.10.001. Retrieved from https://hdl.handle.net/10161/21262.
This is constructed from limited available data and may be imprecise. To cite this article, please review & use the official citation provided by the journal.
More InfoShow full item record
Assistant Professor of Neurology
I see patients with a broad range of movement disorders, including Parkinson's disease, tremors, ataxia, dystonia, tics, and Huntington's disease. I employ deep brain stimulation (DBS) therapy for selected patients with Parkinson's disease, tremor, or dystonia, and use botulinum toxin injections for certain patients with dystonia, tremors, or tics. I work with an interdisciplinary team of physicians, therapists, and other healthcare providers, with the overall goal of helping to improve the live
Chen Family Distinguished Professor of Pediatrics
RESEARCH INTERESTS A multidisciplinary approach to care of individuals with genetic disorders in conjunction with clinical and bench research that contributes to: 1) An understanding of the natural history and delineation of long term complications of genetic disorders with a special focus on liver Glycogen storage disorders, lysosomal disorders witha special focus on Pompe disease, Down syndrome and hypophosphatasia2) The development of new therapies for genetic d
Alphabetical list of authors with Scholars@Duke profiles.