Impulse control behavior in GBA-mutated parkinsonian patients

Amami, Paolo; Santis, Tiziana De; Invernizzi, Federica; Garavaglia, Barbara; Albanese, Alberto

doi:10.1016/j.jns.2020.117291

Cited by 7 publications

(5 citation statements)

References 26 publications

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“…GBA mutation carriers had significantly higher frequency of off-dystonia and dyskinesias (P = 0.036 and P = 0.049, respectively; Fisher's exact test), but the odds of developing these motor complications was not significantly higher after correcting for disease duration. Compared to mutation-negative PD, GBA mutation carriers had an increased risk of impulse control disorder (OR = 6.6, 95%CI = 1.83 -24.4, P = 0.004), as previously described 28 . Other motor and other non-motor features at baseline were similar between GBA mutation carriers and mutation-negative PD.…”

Section: Clinical Features Of Gba Mutation Carrierssupporting

confidence: 79%

Parkinson’s Families Project: a UK-wide study of early onset and familial Parkinson’s disease

Schmaderer,

Towns,

Jasaityte

et al. 2023

Preprint

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The Parkinson’s Families Project is a UK-wide study aimed at identifying genetic variation associated with familial and early-onset Parkinson’s disease (PD). We recruited individuals with a clinical diagnosis of PD and age at motor symptom onset ≤ 45 years and/or a family history of PD. Where possible, we also recruited affected and unaffected relatives. We analysed DNA samples with a combination of single nucleotide polymorphism (SNP) array genotyping, multiplex ligation-dependent probe amplification (MLPA), and whole genome sequencing (WGS). We investigated the association between identified pathogenic mutations and demographic and clinical factors such as age at motor symptom onset, family history, motor symptoms (MDS-UPDRS) and cognitive performance (MoCA). We completed baseline genetic analysis in 714 families, of which 196 had sporadic early-onset PD (sEOPD), 112 had familial early-onset PD (fEOPD) and 406 had late-onset familial PD (fLOPD). 53 (7.4%) of these families carried known pathogenic variants causing PD. We identified pathogenic mutations inLRRK2in 4.1% of families, and bi-allelic pathogenic mutations inPRKNin 2.4% of families. We also identified pathogenic mutations in two families withSNCAduplications, and single families with pathogenic mutations inVCP,PINK1,PNPLA6,PLA2G6andSPG7. Most early-onset and familial PD cases do not have a known genetic cause, indicating that there are likely to be further monogenic causes for PD.

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Section: Clinical Features Of Gba Mutation Carrierssupporting

confidence: 79%

Parkinson’s Families Project: a UK-wide study of early onset and familial Parkinson’s disease

Schmaderer,

Towns,

Jasaityte

et al. 2023

Preprint

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“…However, conflicting findings have been observed with respect to ICD in GBA1-carriers. 9 Our cohort was genotypically similar to the Eastern Asian cohorts with a higher prevalence of the L483P variant, whereas the Caucasian variant N409S and polymorphism E365K was completely absent. Other variants identified in Indian ethnicity are R8T, I200T, E365K, P454L, A495P, R502P, and R502H by Kukkle et al 10 and N227S and S310G by Lim et al 11 .…”

Section: Discussionsupporting

confidence: 64%

Clinicogenetic Characterization of Patients with PD and Heterozygous GBA1 Variants in an Indian Cohort

Kamath,

Holla,

Phulpagar

et al. 2023

Movement Disorders

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“…Frequency and severity of ICDs is higher in Parkin and GBA PD patients ( 26 , 27 ); this association seems only partly related to the relatively young age of PD onset in this patient population; some have in fact suggested a possible synergistic effect between dopamine agonists and specific mutations (i.e., GBA) cautioning against the use of this class of drugs in these patients ( 27 ). It is not surprising that we did not find a genetic mutation in any of our EOPD patients who developed ICDs considering our relatively low sample size, and that Genetic mutations in the genes associated with PD are estimated to be between 10 and 20% in EOPD ( 28 ).…”

Section: Discussionmentioning

confidence: 94%

Impulse control disorders and use of dopamine agonists in early onset Parkinson’s disease

Turcano,

Jacobson,

Ghoniem

et al. 2024

Front. Neurol.

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IntroductionImpulse control disorders (ICDs) are defined as excessive and repetitive behaviors that may affect Parkinson’s disease (PD) patients exposed to dopamine agonists. Current data on ICDs in patients with early-onset Parkinson’s disease (EOPD) is lacking. In this study we aim to assess the frequency of use of dopamine agonists, the prevalence of ICDs, and to explore potential factors associated with their development in patients with EOPD.MethodsWe used the Mayo Clinic Data Explorer system to investigate a population-based cohort of EOPD patients between 1990 and 2022 at Mayo Clinic, Rochester, MN. We used ICD coding for parkinsonism; then, we reviewed all the clinical records and included only those patients with a clinical diagnosis of PD with symptoms onset at or before the age of 50, and who developed ICDs after using therapeutic doses of dopamine agonists.ResultsA total of 831 (513 males and 318 females) patients with EOPD were included with a median age at symptom onset of 42 years of age (CI: 37–46). Dopamine agonists were used in 49.7% of all patients; of these, only 14.5% developed symptoms of one or more ICDs. Hypersexuality was the most commonly observed ICD (38.3%), and the only one having a statistically significant male predominance (p = 0.011).ConclusionICDs are common in EOPD, particularly when associated with the use of dopamine agonists.

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Impulse control behavior in GBA-mutated parkinsonian patients

Cited by 7 publications

References 26 publications

Parkinson’s Families Project: a UK-wide study of early onset and familial Parkinson’s disease

Parkinson’s Families Project: a UK-wide study of early onset and familial Parkinson’s disease

Clinicogenetic Characterization of Patients with PD and Heterozygous GBA1 Variants in an Indian Cohort

Impulse control disorders and use of dopamine agonists in early onset Parkinson’s disease

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