Ethnic Differences in Atypical Parkinsonism-is South Asian PSP Different?

Abstract

Background: Progressive supranuclear palsy (PSP) is a progressive atypical parkinsonian condition that results in severe disability. There are few studies of PSP in patients of non-white European ancestry.

Objectives: We aim to perform deep phenotyping in a South Asian PSP cohort to uncover possible ethnic differences in disease characteristics.

Methods: Consecutive PSP patients had their clinical records reviewed for clinical features operationalized in the Movement Disorder Society (MDS)-PSP diagnostic criteria and relevant investigations, including imaging and genetic tests. Clinical variables were summarized by descriptive statistics and Kaplan-Meier curves were generated for survival analysis.

Results: Twenty-seven patients, comprising Indians (78%), Pakistanis (11%) and Sri Lankans (11%) were included. Mean age of symptom onset was 63.8 ± 7.0 years and 22% of patients had an early age of onset (<60 years). The most common presenting symptom was parkinsonism (56%), followed by cognitive dysfunction (37%), falls (33%) and dysarthria (26%). The predominance types at final review were distributed across PSP-RS (67%), PSP-PGF (15%), PSP-P (15%) and PSP-F (4%). Atypical clinical features like cerebellar signs (33%), REM-sleep behavior disorder (RBD) (55%), visual hallucinations (22%), and a family history of parkinsonism (20%) were evident in a proportion of patients.

Conclusions: We present a South Asian cohort of PSP patients with a higher than previously reported percentages of early-onset disease, family history and atypical clinical manifestations. These patients do not fit easily into the PSP phenotypes defined by the current MDS criteria. Dedicated clinicopathological and genetic tests are needed in this population to dissect the pathogenesis of clinically-defined PSP.

Keywords: genetics; neuroimaging; phenotype; progressive supranuclear palsy; survival.

Figure 1

Survival analyses (Kaplan‐Meier curves) of patients with progressive supranuclear palsy (PSP) from symptom onset. (A) Overall survival probability (y axis) by years from symptom onset (x axis). Median survival was 8.0 years (95% CI: 6.2, 9.8). (B) Survival probability (y axis) by years from symptom onset (x axis) in early‐onset PSP (EOPSP) versus late‐onset PSP (LOPSP). Median survival for EOPSP was 10.0 years (95% CI: 8.0, 12.0) compared to 8.0 years (95% CI: 6.4, 9.6) in LOPSP (P = 0.137).