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The genetic and clinico-pathological profile of early-onset progressive supranuclear palsy.


ABSTRACT: BACKGROUND:Studies on early-onset presentations of progressive supranuclear palsy (PSP) have been limited to those where a rare monogenic cause has been identified. Here, we have defined early-onset PSP (EOPSP) and investigated its genetic and clinico-pathological profile in comparison with late-onset PSP (LOPSP) and Parkinson's disease (PD). METHODS:We included subjects from the Queen Square Brain Bank, PROSPECT-UK study, and Tracking Parkinson's study. Group comparisons of data were made using Welch's t-test and Kruskal-Wallis analysis of variance. EOPSP was defined as the youngest decile of motor age at onset (?55 years) in the Queen Square Brain Bank PSP case series. RESULTS:We identified 33 EOPSP, 328 LOPSP, and 2000 PD subjects. The early clinical features of EOPSP usually involve limb parkinsonism and gait freezing, with 50% of cases initially misdiagnosed as having PD. We found that an initial clinical diagnosis of EOPSP had lower diagnostic sensitivity (33%) and positive predictive value (38%) in comparison with LOPSP (80% and 76%) using a postmortem diagnosis of PSP as the gold standard. 3/33 (9%) of the EOPSP group had an underlying monogenic cause. Using a PSP genetic risk score (GRS), we showed that the genetic risk burden in the EOPSP (mean z-score, 0.59) and LOPSP (mean z-score, 0.48) groups was significantly higher (P

SUBMITTER: Jabbari E 

PROVIDER: S-EPMC6790973 | biostudies-literature | 2019 Sep

REPOSITORIES: biostudies-literature

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The genetic and clinico-pathological profile of early-onset progressive supranuclear palsy.

Jabbari Edwin E   Woodside John J   Tan Manuela M X MMX   Pavese Nicola N   Bandmann Oliver O   Ghosh Boyd C P BCP   Massey Luke A LA   Capps Erica E   Warner Tom T TT   Lees Andrew J AJ   Revesz Tamas T   Holton Janice L JL   Williams Nigel M NM   Grosset Donald G DG   Morris Huw R HR  

Movement disorders : official journal of the Movement Disorder Society 20190712 9


<h4>Background</h4>Studies on early-onset presentations of progressive supranuclear palsy (PSP) have been limited to those where a rare monogenic cause has been identified. Here, we have defined early-onset PSP (EOPSP) and investigated its genetic and clinico-pathological profile in comparison with late-onset PSP (LOPSP) and Parkinson's disease (PD).<h4>Methods</h4>We included subjects from the Queen Square Brain Bank, PROSPECT-UK study, and Tracking Parkinson's study. Group comparisons of data  ...[more]

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