Evaluation of the frequency of non-motor symptoms of Parkinson's disease in adult patients with Gaucher disease type 1.

Wilke MVMB , Dornelles AD , Schuh AS , Vairo FP , Basgalupp SP , Siebert M , Nalin T , Piltcher OB , Schwartz IVD
Orphanet journal of rare diseases
Gaucher disease (GD) is caused by deficiency of beta-glucocerebrosidase (GCase) due to biallelic variations in the GBA1 gene. Parkinson's disease (PD) is the second most common neurodegenerative condition. The classic motor symptoms of PD may be preceded by many non-motor symptoms (NMS), which include hyposmia, rapid eye movement (REM) sleep behavior disorder, constipation, cognitive impairment, and depression. Population studies have identified mutations in GBA1 as the main risk factor for idiopathic PD. The present study sought to evaluate the prevalence of NMS in a cohort of patients with GD type 1 from Southern Brazil.

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