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Spectrum of genetically determined movement disorder in Indian Cohort

Objectives: To elucidate the prevalence of genetically determined movement disorders in Indian cohort. Methods: All patients with primary movement disorder(MD) seen in a single tertiary centre were included retrospectively. We reviewed electronic clinical, neuroimaging, biochemical and molecular genetic features. Genetic investigation included targeted panels and whole exome sequencing, with parental segregation whenever required. Variants were classified according to ACMG guidelines. Patients were then classified according to new nomenclature proposed by Movement Disorder Society. Results: Of 179 patients tested, 59 had no significant gene identified, positivity rate 67%. Age at diagnosis ranged 6months- 32years. Pathogenic/ likely pathogenic variants were identified in 76/120. Of patients with VOUS, 17 had previously reported variants. Distribution was ataxias(ATX) 37.5%, dystonias(DYT) 25%, parkinsonism/ neurodegeneration with brain iron accumulation(PARK/NBIA) 11.7%, hereditary spastic paraparesis(HSP) 11.7%, paroxysmal movement disorder(PxMD) 5%, Myoclonu(MYC) 2.5%, primary familial brain calcification(PFBC) 0.8%, complex MD 5.8%. ATX was the commonest, 7/45 dominant ataxias, 38 recessive ataxias. Commonest was ATX-ATM(10/45), with 1/10 presenting as dopa-responsive dystonia,1 as isolated tremors. Of dystonias, 4/30 had complex DYT/CHOR, 10/30 had complex DTY/PARK, rest had isolated dystonias. Two complex PARK/NBIA genes were identified: PLA2G6(6/14), PANK2(8/14). 31 patients had mutations yet to be classified in 2016 nomenclature. Conclusion: With continued genetic research, newer nomenclature provides comprehensive, uniform method for classification of genetically determined movement disorders; however it is cumbersome, needs further research to include causative/ risk factor mutations. Our centre being a referral centre and traditional endogamous/consanguineous marriages led to higher positivity rate. The study also highlights underreporting of newer mutations.
Keywords: genetic movement disorder, classification

Suhani Shah
Jaslok Hospital and Research Centre
India

Shreya Gandhi
NH SRCC Children's Hospital
India

Tarishi Nemani
Jaslok Hospital and Research centre
India

Nishant Rathod
Jaslok Hospital and Research centre
India

Anaita Udwadia Hegde
Jaslok Hospital and Research centre
India

 

 


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