Dr Kishore Kumar

Research Fellow

Conjoint/Adjunct Role(s)

Staff Specialist, Neurology, Royal North Shore Hospital

Kishore is a neurologist who recently completed his PhD studies with Prof Carolyn Sue (Kolling Institute of Medical Research) and Prof Christine Klein (Institute of Neurogenetics, Luebeck, Germany) from 2011-2014. The topic of his research was ‘Advances in genetic studies for movement disorders’.

He has been appointed a staff specialist in Neurology at the Royal North Shore Hospital and has been awarded a NHMRC Early Career Fellowship to continue his research into the genetics of movement disorders at the Kinghorn Centre for Clinical Genomics.

His current research focus is the application of whole genome sequencing studies to the field of movement disorders and mitochondrial disease. He continues to see patients at the Neurogenetics Clinic at the Royal North Shore Hospital.

Research Interests

Movement disorders
Parkinson disease
Hereditary spastic paraplegia
Spinocerebellar ataxia
Mitochondrial disorders

Awards and Honours

2015-2018 - NHMRC Early Career Fellowship (70% Clinical Practitioner)
2015 - Invited to the International Editorial Board of the journal Movement Disorders
2015 - Knowledge Discovery Project (Biomedical Research), Ramsay Research and Teaching Fund (Principal Investigator)
2015 - RACP Foundation Bushell Traveling Fellowship in Medicine or the Allied Health Sciences
2014 - Douglas Piper Fellowship, Royal North Shore Hospital Scholarship Program
2012 - Travel Grant from the International Parkinson and Movement Disorder Society
2011-2014 - NHMRC Doral Lush Postgraduate Research Scholarship
2010 - P.K. Thomas ANZAN Overseas Clinical Fellowship to the Royal Free Hospital, London, United Kingdom
2010 - Top Teacher Award, University College London
2009 - Neuromuscular Fellowship, Royal North Shore Hospital


2014 – PhD, University of Sydney – Australia
2009 – FRACP, Royal Australasian College of Physicians - Australia
2002 – MBBS, University of Adelaide - Australia

Selected Publications

Kumar K.R., Münchau A., Sue C.M. and C. Klein (2015). Neurogenetics (a book from the ‘What Do I Do Now?’ series). Oxford University Press, New York.

Kumar, K.R., Lohmann, K., Masuho, I., Miyamoto, R., Ferbert, A., Lohnau, T., Kasten, M., Hagenah, J., Brüggemann, N., Graf, J., Münchau, A., Kostic, V.S., Sue, C.M., Domingo, A.R., Rosales, R.L., Lee, L.V., Freimann, K., Westenberger, A., Mukai, Y., Kawarai, T., Kaji, R., Klein, C., Martemyanov, K.A. and A. Schmidt (2014). Mutations in GNAL: a novel cause of craniocervical dystonia. JAMA Neurology, 71, 490-494.

Kumar, K.R., Martemyanov, K.R. and K. Lohmann (2014). GNAL mutations and dystonia--reply. JAMA Neurology, 71, 1053-1054.

Kumar, K.R., Blair, N.F. (shared first author), Vandebona, H., Liang, C., Ng, K., Sharpe, D.M., Grünewald, A., Gölnitz, U., Saviouk, V., Rolfs, A., Klein, C. and C.M. Sue (2013). Targeted next generation sequencing in SPAST-negative hereditary spastic paraplegia. Journal of Neurology, 260, 2516-2522.

Mollenhauer, B., Trautmann, E., Sixel-Döring, F., Wicke,T., Ebentheuer,J., Schaumburg,M., Lang,E., Focke,N.K., Kumar, K.R., Lohmannm K., Klein, C., Schlossmacher, M.G., Kohnen, R., Friede, T.,Trenkwalder, C. and the DeNoPa Study Group (2013). Non-motor findings and diagnostic results in de novo Parkinson’s disease subjects of the DeNoPa study. Neurology, 81, 1226-1234.

Lohmann, K., Wilcox, R., Winkler, S., Ramirez, A., Rakovic, A., Park, J.S., Arns, B., Lohnau, T., Groen, J., Kasten, M., Brüggemann, N., Hagenah, J., Schmidt, A., Kaiser, F.J., Kumar, K.R., Zschiedrich, K., Alvarez-Fischer, D., Altenmüller, E., Ferbert, A., Lang, A.E., Münchau, A., Kostic, V., Simonyan, K., Agzarian, M., Ozelius, L.J., Langeveld, A.J.M., Sue, C.M., Tijssen, M.A.J. and C. Klein (2013).  Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene. Annals of Neurology, 73, 537-545.

Arif, B., Kumar, K.R. (shared first author), Seibler, P., Vulinovic, F., Fatima, A., Winkler, S., Nürnberg, G., Thiele, H., Nürnberg, P., Jamil, A.Z., Brüggemann, A., Abbas, G., Klein, C., Naz, S. and K. Lohmann (2013). Exome sequencing reveals a novel OPA3 mutation: An example of “reverse phenotyping”. JAMA Neurology, 70, 783-787.

Kumar, K.R., Ramirez, A., Göbel, A., Kresojević, N., Svetel, M., Lohmann, K., Sue, C.M., Rolfs, A., Mazzulli, J.R., Alcalay, R.N., Krainc, D., Klein, C., Kostic, V. and A. Grünewald (2013). Glucocerebrosidase mutations in a Serbian Parkinson's disease population. European Journal of Neurology, 20, 402-405.

Kumar, K.R., Weissbach, A., Heldmann, M., Kasten, M., Tunc, S., Sue, C.M., Svetel, M., Kostić, V.S., Segura-Aguilar, J., Ramirez, A., Simon, D.K., Vieregge, P., Münte, T.F., Hagenah, J., Klein, C. and K. Lohmann (2012). Frequency of the D620N mutation in VPS35 in Parkinson disease.  Archives of Neurology, 69, 1360-1364.

Schmidt, A., Kumar, K.R.(shared first author), Redyk, K., Grünewald, A., Leben, M., Münchau, A., Sue, C.M., Hagenah, J., Hartmann, H., Lohmann, K., Christen, H.J. and C. Klein (2012) Two faces of the same coin: benign familial infantile seizures and paroxysmal kinesigenic dyskinesia caused by PRRT2 mutations. Archives of Neurology, 69, 668-670.

Kumar, K.R., Lohmann, K. and C. Klein (2012). Genetics of Parkinson disease and other movement disorders.  Current Opinion in Neurology, 25, 466-474.

Kasten, M., Kertelge, L., Tadic, V., Brüggemann, N., Schmidt, A., van der Vegt, J., Siebner, H., Buhmann, C., Lencer, R., Kumar, K.R., Lohmann, K., Hagenah, J. and C. Klein (2012). Depression and quality of life in monogenic compared to idiopathic, early-onset Parkinson's disease.  Movement Disorders, 27, 754-759.

Kumar, K.R., Sue, C.M., Burke, D. and K. Ng (2012). Peripheral neuropathy in hereditary spastic paraplegia due to spastin (SPG4) mutation--a neurophysiological study using excitability techniques. Clin Neurophysiol, 123, 1454-1459.

Kumar, K.R., Djarmati-Westenberger, A. and A. Grünewald (2011). Genetics of Parkinson's disease. Seminars in Neurology, 31, 433-440.

Kumar, K.R., Needham, M., Mina, K., Davis, M., Brewer, J., Staples, C., Ng, K., Sue, C.M. and F.L. Mastaglia (2010). Two Australian families with inclusion-body myopathy, Paget's disease of bone and frontotemporal dementia: novel clinical and genetic findings.  Neuromuscular Disorders, 20, 330-334. 

Dr Kishore Kumar