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dc.contributor.authorAvenali, M
dc.contributor.authorToffoli, M
dc.contributor.authorMullin, S
dc.contributor.authorMcNeil, A
dc.contributor.authorHughes, DA
dc.contributor.authorMehta, A
dc.contributor.authorBlandini, F
dc.contributor.authorSchapira, AHV
dc.date.accessioned2019-06-21T18:39:06Z
dc.date.available2019-06-21T18:39:06Z
dc.date.issued2019-10
dc.identifier.issn0022-3050
dc.identifier.issn1468-330X
dc.identifier.urihttp://hdl.handle.net/10026.1/14358
dc.description.abstract

<jats:sec><jats:title>Objectives</jats:title><jats:p><jats:italic>GBA1</jats:italic> mutations are a frequent risk factor for Parkinson disease (PD). The aim of this study is to evaluate clinical features in a group of <jats:italic>GBA1</jats:italic> mutation–positive individuals over a 6-year follow-up.</jats:p></jats:sec><jats:sec><jats:title>Methods</jats:title><jats:p>This is a longitudinal study on a cohort of <jats:italic>GBA1</jats:italic>-positive carriers. We enrolled 31 patients with Gaucher disease type 1 (GD), 29 <jats:italic>GBA1</jats:italic> heterozygous carriers (Het <jats:italic>GBA</jats:italic> group) and 30 controls (HC) at baseline and followed them for 6 years. We assessed baseline motor and non-motor signs of PD in all subjects using clinical questionnaires and scales (reduced Unified Multiple System Atrophy Rating Scale (UMSARS), Montreal Cognitive assessment (MoCA), University of Pennsylvania Smell Identification Test (UPSIT), REM Sleep Behavior Disorder screening questionnaire (RBDsq), Movement Disorders Society Unified Parkinson’s Disease Rating Scale motor subscale (MDS-UPDRS III) and Beck Depression Inventory (BDI). We repeated these at the 6-year follow-up alongside venous blood sampling for measurement of glucocerebrosidase enzymatic activity (GCase). We explored whether the GCase activity level was altered in leucocytes of these subjects and how it was related to development of PD.</jats:p></jats:sec><jats:sec><jats:title>Results</jats:title><jats:p>We observed a significant worsening in UMSARS, RBDsq, MDS-UPDRS III and BDI scores at the 6-year follow-up compared with baseline in both the GD and Het <jats:italic>GBA</jats:italic> groups. Intergroup comparisons showed that GD subjects had significantly worse scores in UPSIT, UMSARS, MoCA and MDS-UPDRS III than HC, while Het <jats:italic>GBA</jats:italic> displayed worse outcomes in UPSIT and MDS-UPDRS III compared with HC. In <jats:italic>GBA1</jats:italic> mutation–positive individuals (Het <jats:italic>GBA</jats:italic> and GD), an UPSIT score of 23 at baseline was correlated with worse outcome at 6 years in UPSIT, MoCA, MDS-UPDRS III and BDI.</jats:p></jats:sec><jats:sec><jats:title>Conclusion</jats:title><jats:p>In this 6-year-long longitudinal study, <jats:italic>GBA1</jats:italic> mutation–positive subjects showed a worsening in motor and non-motor prodromal PD features.</jats:p></jats:sec>

dc.format.extent1091-1097
dc.format.mediumPrint-Electronic
dc.languageen
dc.language.isoen
dc.publisherBMJ Publishing Group
dc.subjectGBA
dc.subjectgaucher disease
dc.subjectneurodegeneration
dc.subjectolfaction
dc.subjectparkinson’s disease
dc.subjectAdult
dc.subjectAged
dc.subjectAutonomic Nervous System Diseases
dc.subjectCognitive Dysfunction
dc.subjectDepression
dc.subjectDisease Progression
dc.subjectFemale
dc.subjectGaucher Disease
dc.subjectGlucosylceramidase
dc.subjectHeterozygote
dc.subjectHumans
dc.subjectHypokinesia
dc.subjectLeukocytes
dc.subjectLongitudinal Studies
dc.subjectMale
dc.subjectMental Status and Dementia Tests
dc.subjectMiddle Aged
dc.subjectMutation
dc.subjectOlfaction Disorders
dc.subjectParkinson Disease
dc.subjectParkinsonian Disorders
dc.subjectPostural Balance
dc.subjectProdromal Symptoms
dc.subjectREM Sleep Behavior Disorder
dc.subjectSensation Disorders
dc.subjectTremor
dc.titleEvolution of prodromal parkinsonian features in a cohort of GBA mutation-positive individuals: a 6-year longitudinal study
dc.typejournal-article
dc.typeArticle
plymouth.author-urlhttps://www.ncbi.nlm.nih.gov/pubmed/31221723
plymouth.issue10
plymouth.volume90
plymouth.publisher-urlhttp://dx.doi.org/10.1136/jnnp-2019-320394
plymouth.publication-statusPublished
plymouth.journalJournal of Neurology, Neurosurgery and Psychiatry
dc.identifier.doi10.1136/jnnp-2019-320394
plymouth.organisational-group/Plymouth
plymouth.organisational-group/Plymouth/Faculty of Health
plymouth.organisational-group/Plymouth/Faculty of Health/Peninsula Medical School
plymouth.organisational-group/Plymouth/REF 2021 Researchers by UoA
plymouth.organisational-group/Plymouth/REF 2021 Researchers by UoA/UoA01 Clinical Medicine
plymouth.organisational-group/Plymouth/Research Groups
plymouth.organisational-group/Plymouth/Research Groups/FoH - Applied Parkinson's Research
plymouth.organisational-group/Plymouth/Research Groups/FoH - Community and Primary Care
plymouth.organisational-group/Plymouth/Users by role
plymouth.organisational-group/Plymouth/Users by role/Academics
plymouth.organisational-group/Plymouth/Users by role/Researchers in ResearchFish submission
dc.publisher.placeEngland
dcterms.dateAccepted2019-05-01
dc.rights.embargodate9999-12-31
dc.identifier.eissn1468-330X
dc.rights.embargoperiodNot known
rioxxterms.versionofrecord10.1136/jnnp-2019-320394
rioxxterms.licenseref.urihttp://www.rioxx.net/licenses/all-rights-reserved
rioxxterms.typeJournal Article/Review


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