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Impulse control behavior in GBA-mutated parkinsonian patients

  • Paolo Amami*
  • , Tiziana De Santis
  • , Federica Invernizzi
  • , Barbara Garavaglia
  • , Alberto Albanese
  • *Autore corrispondente per questo lavoro
  • IRCCS Istituto Clinico Humanitas - Rozzano (Milano)
  • IRCCS Fondazione Istituto Neurologico Carlo Besta - Milano

Risultato della ricerca: Contributo in rivistaArticolopeer review

Abstract

Objective: To assess the prevalence and phenomenology of Impulse control behavior (ICB) in Parkinson's disease (PD) patients carrying mutations in the β-glucocerebrosidase (GBA) gene. Background: GBA mutations are a common genetic factor predisposing to PD. ICB is among the most disabling non-motor complications of PD. The occurrence of ICB in PD patients carrying GBA gene mutations (GBA-PD) has not been yet established. Methods: Forty-six patients with clinically definite PD (23 GBA-PD and 23 non-mutated patients, NM-PD) were screened for ICB. Diagnosis was clinically and rating based on a specific questionnaire (QUIP-RS). Other demographic and clinical variables did not differ between groups. Results: ICB occurred more frequently in GBA-PD patients (52.2%) compared to NM-PD (13%) and the total QUIP-RS score was higher in the GBA-PD group. Hypersexuality and compulsive shopping were the most prevalent ICB types occurring in GBA patients. ICB occurred only in one GBA-PD patient on levodopa monotherapy and in 11 patients taking dopamine agonists, either monotherapy or combined with levodopa (the corresponding figures in NM-PD patients were 0 and 3). Most GBA-PD patients were heterozygous for two common genetic variants, without appreciable difference in their ICB profile. Conclusion: ICB is more common in GBA-PD patients compared to NM-PD. Dopamine agonist therapy may be synergic to GBA carrier status for ICB occurrence.
Lingua originaleInglese
pagine (da-a)117291-N/A
Numero di pagine4
RivistaJournal of the Neurological Sciences
Volume421
DOI
Stato di pubblicazionePubblicato - 2021

Keywords

  • Dopamine agonists
  • Genotype-phenotype correlation
  • Glucocerebrosidase
  • Impulse control disorders
  • Parkinson's disease

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