14.57 Expanding the phenotypic spectrum of PSP: Findings from the PROSPECT-UK study

BackgroundProgressive supranuclear palsy (PSP) is a common cause of atypical parkinsonism.ObjectiveTo study the genetic and clinico-pathological profile of various PSP phenotypes using patient data from the PROSPECT-UK study.MethodsClinical data from PSP patients in the PROSPECT-UK study was analyse...

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Published inJournal of neurology, neurosurgery and psychiatry Vol. 90; no. 12; p. e4
Main Authors Jabbari, Edwin, Woodside, John, Costantini, Alyssa, Lees, Andrew, Morris, Huw
Format Journal Article
LanguageEnglish
Published London BMJ Publishing Group LTD 01.12.2019
Subjects
Brain research
College campuses
Consortia
Disease
Gait
Genetics
Genotype & phenotype
Hospitals
Laboratories
Medicine
Neurochemistry
Neurology
Neuromuscular diseases
Neurosurgery
Older people
Pathology
Psychiatry
Research centers
University colleges
United Kingdom > UK
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Summary:BackgroundProgressive supranuclear palsy (PSP) is a common cause of atypical parkinsonism.ObjectiveTo study the genetic and clinico-pathological profile of various PSP phenotypes using patient data from the PROSPECT-UK study.MethodsClinical data from PSP patients in the PROSPECT-UK study was analysed to assess the rates of various PSP phenotypes, as defined by the 2017 Movement Disorder Society diagnostic criteria. A subset of patients are currently undergoing 5 year longitudinal follow-up, including genetics, video clinical assessments and post-mortem confirmation of diagnosis.ResultsWe have established a cohort of 345 patients with PSP. The longitudinal sub-cohort consists of 100 PSP patients: 58 patients with classical Richardson’s syndrome (RS) and 42 patients with a variety of non-RS presentations including PSP-Parkinsonism and Pure Akinesia with Gait Freezing. We found significant differences in the mean disease duration of deceased RS and non-RS cases (5.6 vs 9.2 years) but similar rates of PSP pathology in cases (n=28) with post-mortem confirmation (94% and 100%). Our PROSPECT-UK data has contributed to a GWAS which identified that common variation at the TRIM11 locus determined PSP phenotype (Jabbari et al 2018). In addition, we have identified 1 case with a MAPT L284R mutation and 1 case with genetic and biochemically confirmed Niemann-Pick type C disease.ConclusionsThe PROSPECT-UK study has furthered our knowledge on the clinical profile of PSP and the biological determinants which drive phenotypic variation.
ISSN:0022-3050
1468-330X
DOI:10.1136/jnnp-2019-ABN-2.12