Category: Parkinsonism, Atypical: PSP, CBD
Objective: To understand Progressive Supranuclear palsy (PSP) phenotype and genotype from India.
Background: Insights into PSP pathophysiology and newer clinical phenotypes are increasingly being recognized. There is paucity of data from underrepresented populations including India.
Method: PAIR-PSP is a prospective multicenter registry, initiated across India, to provide an insight into novel clinical and genetic aspects of PSP. Currently fifteen clinical centers under Parkinson Research Alliance of India (PRAI) and Medgenome Labs are participants of this consortium, with a target to recruit 1000 PSP subjects.
Results: Clinical Phenotype:
Currently 142 PSP subjects (M:F-53:89) have been enrolled, (mean age, 65±8 years) from across India. The diagnostic certainty varied on MDS-PSP criteria with 75% having met Probable PSP, 19% with Possible PSP, and 5% were suggestive of PSP. The mean age at onset of symptoms was 62 years with mean duration of 40 months. Consanguineous parentage was noted in 7%, and family history of similar symptoms in 3%. Clinical presentation patterns varied – motor presentations (91%), behavioral (7%) and cognitive features (2%). Among the initial presenting symptoms the most common were: Falls (23%), slowness in ADL (19%), Tremors (14%), Poor balance (11%), change in gait (10%). The clinical phenotypes include PSP-RS (29%), PSP with predominant CBS (21%), PSP with predominant parkinsonism (18%), PSP with frontal presentation (11%), PSP with predominant postural instability (12%), PSP with progressive gait freezing (7%),PSP with predominant ocular motor dysfunction, and PSP with predominant speech/language disorder (1%). The mean total MDS-NMS score was 59.6 and total PSP-RS was 41.1±17.2 (Range:8-89). The PSP-CDS score was 10.7±4.1 (Range 2-21).
Genetic Works: Genotyping has been done using Illumina Global Screening Array version 3. The GWAS analysis was done using PLINK1.9. The GWAS analysis revealed 62 markers passing a genome-wise threshold of 1e-08. Further we performed the GWAS results annotation using the FUMA tool. The MAGMA module for gene enrichment results identified genes known in several functional pathways and are expressed in the brain (SYNGR4, TTL11 etc). Further analysis and interpretations are in progress.
Conclusion: This large ongoing clinical registry of PSP gives valuable insights into the clinical phenotypes, socio-demographic variations and genetic aspects of the disease in the Indian subcontinent.
To cite this abstract in AMA style:
P. Kukkle, R. Gupta, S. Desai, S. Mehta, D. Joshi, N. Kumar, R. Kandadai, L. Sahoo, A. Mukherjee, V. Paramanandam, S. Murugan, D. Kp, S. Sundaram, R. Rajan, R. Menon, K. Shetty, P. Samson, S. Krishnan, M. Deshmukh, P. Wadia, C. Sandeep, P. Aggarwal, S. Bhowmick, H. Kumar, A. Biswas, V. Goyal, S. Seshagiri, R. Borgohain, V. Ramprasad. Pan India Registry for Progressive Supranuclear Palsy (PAIR-PSP) [abstract]. Mov Disord. 2022; 37 (suppl 2). https://www.mdsabstracts.org/abstract/pan-india-registry-for-progressive-supranuclear-palsy-pair-psp/. Accessed June 15, 2025.« Back to 2022 International Congress
MDS Abstracts - https://www.mdsabstracts.org/abstract/pan-india-registry-for-progressive-supranuclear-palsy-pair-psp/