ICNC Abstracts, ICNC 2018

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Kritika Tiwari, TARISHI NEMANI, Purva Keni karnavat, ANAITA UDWADIA HEGDE

Last modified: 2018-09-09


Introduction: The advent of next generation sequencing(NGS) has led to accurate genetic diagnosis and better understanding of the spectrum of pediatric movement disorders(MD). We aim to describe the genetic profile of our patients with MD.

Methodology: We analyzed 138 patients with primary MD. 89 of them with suspected genetic etiologies underwent NGS. We classified them according to the International Parkinson and Movement Disorder Society Task Force recommendations. The results were correlated with their clinical profile, neuroimaging and family genetics, when available, to determine their significance.

Results: 36/89, 32/89, 9/89, 10/89, 2/89 belonged to the dystonia, ataxia, hereditary spastic paraparesis(HSP), paroxysmal movement disorders(PMD) and parkinsonism group respectively. Causative genes were found in 55/89(61%).

Most common phenotype was dystonia with 19/36(52.7%) genetic positivity. DYT related genes (DYT5, DYT6, DYT11) were the most common while few others were HPRT1,GLB1 and HEXA. Large number of patients with clinically suspected neurotransmitter disorders with pharmacological responsiveness were genetically negative. 24/32(75%) patients presenting predominantly with ataxia had positive results with the common genes being ATM, ITPR1, ATP1A3, SLC2A1, ACO2 and SACS. 8/9(88%) with HSP were positive for causative genes like SPG11, SPG47, SPG3A, SPG33 and SPG7. Amongst patients with PMD, 3/10(30%) were positive with ABAT, MT-ATP8, ATP1A3 gene mutations. 1/2(50%) patients with parkinsonism was positive with LRRK2 mutation.

Conclusion: In movement disorders, genetics helps largely with confirmation of diagnosis, prognostication, avenues for research, and antenatal protection. Treatment, however, is still largely based on the clinical picture.



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