title: Cognitive impairment in carriers of glucocerebrosidase gene mutation in Parkinson disease patients.
abstract: OBJECTIVE
  Parkinson disease (PD) is the common neurodegenerative disease with motor and numerous non-motor symptoms, including cognitive impairment. Mutation of glucocerebrosidase (GBA) gene is the most common genetic risk factor of sporadic PD. The aim of this study was to assess clinical features of PD associated with GBA mutation.
  
  
  METHODS
  One hundred and thirty-eight PD patients were involved and examined by the movement disorder specialist using several scales including Unified Parkinson Disease Rating Scale (UPDRS) part II and III, Hoehn and Yahr (H&Y) staging, Mini-Mental State Examination (MMSE) and Hamilton Depression Scale (HDS). The exons 8 and 9 of GBA was sequenced and screened for variants.
  
  
  RESULTS
  The GBA variants were found in 16 (11.6%) PD patients: N370S mutation in 5 (3.6%) and T369M variant in 11 (7.9%). No significant differences between the group of mutation carriers and non-carriers were found in relation to clinical features except for dementia (MMSE score<26) occurring more often in N370S mutation carriers (60.0% vs 19.6%, p=0.03).
  
  
  CONCLUSIONS
  The N370S GBA mutation is the risk factor for cognitive impairment in PD patients.
authors.affiliation: Department of Neurology, Jagiellonian University Medical College, Krakow, Poland. Electronic address: malec.mich@gmail.com.
authors.forename: Michalina
authors.initials: M
authors.lastname: Malec-Litwinowicz
authors.affiliation: Department of Neurology, Medical University of Silesia, Katowice, Poland. Electronic address: rudzinsk@cm-uj.krakow.pl.
authors.forename: Monika
authors.initials: M
authors.lastname: Rudzińska
authors.affiliation: Department of Medical Genetics, Polish-American Institute of Pediatrics, Jagiellonian University Medical College, Krakow, Poland.
authors.forename: Michał
authors.initials: M
authors.lastname: Szubiga
authors.affiliation: Department of Neurology, Jagiellonian University Medical College, Krakow, Poland.
authors.forename: Michał
authors.initials: M
authors.lastname: Michalski
authors.affiliation: Department of Neurology, Jagiellonian University Medical College, Krakow, Poland.
authors.forename: Tomasz
authors.initials: T
authors.lastname: Tomaszewski
authors.affiliation: Department of Neurology, Jagiellonian University Medical College, Krakow, Poland.
authors.forename: Andrzej
authors.initials: A
authors.lastname: Szczudlik
mesh_terms: D000368:Aged; D003072:Cognition Disorders / Q000453:epidemiology* / Q000235:genetics*; D005260:Female; D005962:Glucosylceramidase / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009483:Neuropsychological Tests; D010300:Parkinson Disease / Q000453:epidemiology* / Q000235:genetics*; D010641:Phenotype; D017354:Point Mutation; D011044:Poland / Q000453:epidemiology; D012307:Risk Factors
chemical_list: D005962:Glucosylceramidase
keywords: Glucocerebrosidase; Parkinson disease; Parkinson's disease dementia