Neuromuscular laboratory (Officer In-charge: Dr. A.B. Taly)

Neuromuscular laboratory (Officer In-charge: Dr. A.B. Taly)

The Neuromuscular Laboratory is among the two new laboratories established in the phase 2 of the Neurobiology Research Centre and inaugurated on 10th May 2012. The Laboratory was conceptualized by Dr AB Taly, Professor, Department of Neurology with the objectives of providing comprehensive diagnosis of neuromuscular disorders with particular reference to muscular dystrophies, mitochondrial disorders, genetically determined and immune mediated neuropathies. It also has the responsibility of developing database of neuromuscular diseases, manpower training and development and subserve research In these fields.

The Laboratory is unique in having on board both clinician neurologists – Dr.AB Taly (also the officer-in-charge), Dr. A. Nalini, Dr. P.S. Bindu and Dr.N.Madhu and neuropathologists – Dr. Gayathri N, Dr. Anita Mahadevan and Dr .T.C.Yasha working in tandem to develop advanced diagnostic tests of importance for patient care and carry out translational research. In a nutshell, in the first two years since its inception, diagnostic techniques that have been initiated include Western blot for muscular dystrophies, genetic tests for Duchenne muscular dystrophy and spinal muscular atrophy, respiratory chain assay for mitochondrial disorders. In field of peripheral nerve disorders, a new technique of skin punch biopsy has been standardized for evaluation of patients with small fibre neuropathies for the first time in the country!

As a new initiative, an advanced diagnostic facility for autoantibody tests for immune mediated disorders (autoantibody profile for vasculitides, paraneoplastic neuropathies, autoimmune encephalitis and neuromyelitis optica) and muscle disorders has been proposed on a self sustaining mode that will provide resource-intensive sophisticated techniques available to patients admitted at NIMHANS at affordable prices.

On the research side, the faculty works on research grants from DBT, DST and ICMR and has centred on mitochondrial disorders with mitochondrial genome sequencing, with genotype-phenotype correlations. Study on autoantibody profile in myasthenia gravis and clinical, radiological characteristics of meuromyelitis optica has been initiated. The research work over the last 2 years has been translated into 14 publications in peer reviewed National and International journals and presented in national and international conferences including World Congress of Neurology. Two workshops for manpower development in mitochondrial medicine has been organized.

Publications (2013-14)

1. Bindu PS, Taly AB, Sonam K, Govindaraju C, Arvinda HR, Gayathri N, Bharath MM, Ranjith D, Nagappa M, Sinha S, Khan NA, Thangaraj K. Bilateral hypertrophic olivary nucleus degeneration on magnetic resonance imaging in children with Leigh and Leigh-like syndrome. Br J Radiol. 2014 Feb;87(1034):20130478.

2. Sonam K, Bindu PS, Gayathri N, Khan NA, Govindaraju C, Arvinda HR, Nagappa M, Sinha S, Thangaraj K, Taly AB.The “Double Panda” Sign in Leigh Disease. J Child Neurol. 2014;29(7) 980-982

3. Sonam K, Khan NA, Bindu PS, Taly AB, Gayathri N, Bharath MM, Govindaraju C, Arvinda HR, Nagappa M, Sinha S, Thangaraj K.Clinical and magnetic resonance imaging findings in patients with Leigh syndrome and SURF1 mutations. Brain Dev. 2013 Nov 18.

4. Khan NA, Govindaraj P, Soumittra N, Srilekha S, Ambika S, Vanniarajan A, Meena AK, Uppin MS, Sundaram C, Taly AB, Bindu PS, Gayathri N, Thangaraj K. Haplogroup heterogeneity of LHON patients carrying the m.14484T>C mutation in India.Invest Ophthalmol Vis Sci. 2013 Jun 10;54(6):3999-4005

5. Shymal S, Sudha K, Gayathri N, Anil Kumar G. The Y-organ secretory activity fluctuates in relation to seasons of molt and reproduction in the brachyuran crab, Metopograpsus messor(Grapsidae): ultrastructural and immunohistochemical study. General and Comparative Endrocrinology. 2014, 196:81-90

6. Renjini R, Gayathri N, Sudha Mishra, Sunitha B,Mythri R, Nalini A, Harsha YH, Kolthur- Seetharam U, Srinivas Bharath MM Mitochondrial alteration and oxidative stress in an acute transient mouse model of muscle degeneration: Implications in muscular dystrophies and related pathologies J Biological Chemistry, 289(1),485-509, 2014.

7. Rakesh Jadav, Sanjib Sinha, Bindu PS, Yasha TC, Gayathri N, Aravind P, Satish Chandra P. Clinical, electrophysiological, imaging and ultrastructural description in 68 patients with Neuronal Ceroid Lipofuscinosis (NCL) and its subtype” has been accepted for publication in Pediatric Neurology 2014;50(1):85-95.

8. Bindu PS, Taly AB,Sonam K, Rita Christopher, Gayathri N, Sinha S,Madhu N, Maya B, Rose D B. Electro-clinical features and magnetic resonance imaging correlated in Menkes disease Brain & Development 2013,35: 398-405

9. Nalini A, Gayathri N, Nishino I, Hayashi YK GNE myopathy in India. Neurology India 2013; 61:371-374

10. Madhu N,Nalini A, Gayathri N A large series of immunohistochemically confirmed cases of congenital muscular dystrophies Neurology India 2013; 61:481-487

11. Ramashekar NM, Jagtap S,Thakkar R, Gayathri N, Nair M Mucolipidosis and progressive myoclonus epilepsy: A distinctive phenotype Neurology India 2013;61 537- 539

12. Ravishankar Naik K,Saroja AO, Gayathri N. Electromyographic and histological features of postpartum hypernatremia rhabdomyolysis Ann Indian Acad Neurol rol 2013;16: 664-667

13. Saroja AO, Ravishankar Naik K, Nalini A, Gayathri N. Bethlem myopathy:An Autosomal dominant myopathy with flexion contractures,keloids and follicular hyperkeratosis. Ann Indian Acad Neurol 2013;16: 712-7715