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

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.
Source: Molecular Genetics and Metabolism Reports - Category: Genetics & Stem Cells Source Type: research

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To the Editor In a study published in JAMA Neurology, Beavan et al reported a 2-year follow-up study of 30 patients with a diagnosis of type 1 Gaucher disease, 28 heterozygous glucocerebrosidase gene (GBA) mutation carriers, and 26 control individuals. It is well known that GBA mutations are a confirmed genetic risk for developing Parkinson disease (PD). Previously, Winder-Rhodes et al found that GBA mutations were present at a frequency of 3.5% in a UK PD population, confirming the important contribution of this gene in the clinical progression of PD. Indeed, the authors found that the hazard ratio for progression both to...
Source: JAMA Neurology - Category: Neurology Source Type: research
Conclusions: Continued longitudinal evaluation of patients with Gaucher disease and heterozygous carriers of GBA1 mutations may help identify a pre-motor phase in this cohort at risk of developing parkinsonism. This pre-motor profile may suggest specific neurotransmitters involved in neurodegeneration and contribute to a better understanding of the association between lysosomal dysfunction and alpha-synuclein aggregation.Disclosure: Dr. Kim has nothing to disclose. Dr. Cintron has nothing to disclose. Dr. Wiggs has nothing to disclose. Dr. Groden has nothing to disclose. Dr. Sidransky has nothing to disclose. Dr. Lopez has...
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