cns-2019-scientifictracks

Page 32

Notes:

June 10-11, 2019 | Edinburgh, Scotland

Central Nervous System and Therapeutics

International Conference on

Journal of Neurology and Neurorehabilitation Research | Volume 4

allied

academies

New Phenotypic and Genotype SOD1 Mutation in dominant familial Motor Neuron

Disease: A case report of a family and Epidemiology of Motor Neuron Disease in North

Malabar

Soumya CV

ASTER MIMS, India

nterior horn cell diseases are a group of pure motor

disorders involving both upper and lower motor neurons.

They are currently untreatable and carry variable course

based on the phenotype. The nervous system is vulnerable

for oxidative stress due to its high oxygen consumption, low

antioxidants, poor regenerative capacity, and presence of

metal ions. A 36 year old female had exertion induced cramps

of her right lower limb, coldness in the right lower limb,

progressive weakness, wasting, and fasciculation; became

bilateral within 4 years. She had cyanosis, hypothermia, and

decreased sweating of right leg with psoriasis. Her nerve

conduction and electromyography studies were suggestive

of anterior horn cell disease, which was supported by

histopathology. She had severe reduction in total volume of

sweat produced and prolonged sweat latency on the right

sided limbs as assessed by Quantitative sudomotor axon

reflex test. DNA testing showed SOD1 cytogenetic band exon

4 of the SOD1 gene. chr. 21:33039650c>C/T; c. 319c>C/T.

We report a new phenotype in dominantly inherited

amyotrophic lateral sclerosis, with asymmetrical vasomotor

and sudomotor changes and psoriasis. We would also like to

present the epidemiologic data regarding the various clinical

phenotypes of motor neuron disease in our part of the world.

Speaker Biography

Soumya CV has worked as Consultant Neurologist in AKG Memorial

Cooperative hospital, Talap, Kannur for 6 years from January 2013 to

December 2018 Attends to around 45 OP patients per day regularly, has

more than 30 IP patients per week, has thrombolysed more than 150 acute

stroke cases personally, has given botulinum toxin to around 30 patients

Working as part - time consultant Neurologist in Dhanalakshmi Hospital,

Kannur fromMarch 2018 with regular OPDs twice weekly. Started working

in ASTER MIMS Hospital Kannur from February 2019