Evolution and clustering of prodromal parkinsonian features in GBA1 carriers

Background Five to 25% of patients with PD carry glucocerebrosidase gene mutations, and 10% to 30% of glucocerebrosidase carriers will develop PD by age 80. Stratification of PD risk in glucocerebrosidase carriers provides an opportunity to target disease‐modifying therapies. Objective Cross‐section...

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Bibliographic Details
Published in:Movement disorders 2019-09, Vol.34 (9), p.1365-1373
Main Authors: Mullin, Stephen, Beavan, Michelle, Bestwick, Jonathan, McNeill, Alisdair, Proukakis, Christos, Cox, Timothy, Hughes, Derralynn, Mehta, Atul, Zetterberg, Henrik, Schapira, Anthony H.V.
Format: Article
Language:English
Subjects:
Adult
Aged
Basal ganglia
Central nervous system diseases
Cluster Analysis
cognition
Cognitive ability
Confidence intervals
Cross-Sectional Studies
depression
Diagnosis
Disease Progression
Female
Gaucher
Genotype
glucocerebrosidase
Glucosylceramidase
Glucosylceramidase - genetics
Heterozygote
Humans
Male
Middle Aged
Movement disorders
Mutation
Neurosciences
Neurovetenskaper
Olfaction
Parkinson's
Parkinson's disease
Parkinsonian Disorders - genetics
prodromal
Prodromal Symptoms
Prospective Studies
Risk Assessment
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Summary:Background Five to 25% of patients with PD carry glucocerebrosidase gene mutations, and 10% to 30% of glucocerebrosidase carriers will develop PD by age 80. Stratification of PD risk in glucocerebrosidase carriers provides an opportunity to target disease‐modifying therapies. Objective Cross‐sectional and longitudinal survey of prodromal PD signs among glucocerebrosidase carriers. Design Prospective assessment of 82 glucocerebrosidase mutation carriers and 35 controls over 4 to 5 years for prodromal clinical PD features. Results At all time points, olfactory (measured using University of Pennsylvania Smell Identification Test) and cognitive (Montreal Cognitive Assessment) function and the International Parkinson and Movement Disorder Society UPDRS parts II and III scores were significantly worse amongst glucocerebrosidase mutation carriers. Progression to microsmia (odds ratio: 8.5; 95% confidence interval: 2.6–28.2; P
ISSN:0885-3185
1531-8257
DOI:10.1002/mds.27775