COVID-19 Update - This is to inform you that the Government of India has announced a complete lockdown in India 22nd March 2020 to 3rd May 2020. As a result, our offices will now be closed till 3rd May 2020 and all our employees will be working from home. Office telephones will not be answered, and therefore you are requested to direct all your queries related to manuscript submission, review process, publication etc. at below mentioned details.,, Mob. 8826373757, 8826859373, 9910947804

Print ISSN:-2581-8236

Online ISSN:-2581-916X


Current Issue

Year 2020

Volume: 6 , Issue: 1

Article Access statistics

Viewed: 173

Emailed: 0

PDF Downloaded: 95

IP Indian Journal of Neurosciences

Profile of Friedreich’s ataxia in a tertiary neurology institute: a study from eastern India

Full Text PDF Share on Facebook Share on Twitter

Research Article

Author Details : Ashok K Mallick, Shubankar Mishra*, Geeta Mohanty, Soumya D Nayak

Volume : 5, Issue : 4, Year : 2019

Article Page : 203-205

Suggest article by email


Introduction: Friedreich Ataxia (FA) is an autosomal recessive inherited form of ataxia. Clinical
presentation includes cerebellar and sensory ataxia, associated with pyramidal signs, an absence of tendon
reflexes in the legs, deep sensory loss, and foot deformity.
Aims and Scope: To know the hospital-based incidence, epidemiological profile of FA. To know the
commonest mode of presentation. To watch for the complications. To observe its radiological features
along with electrophysiological properties.
Settings and Design: Prospective clinical study in the department of neurology of S.C.B Medical College,
Cuttack, Odisha, India. The study was done for 2 complete years.
Material and Methods: All patients who presented with clinical symptoms of FA with positive for allelic
mutation were included in the study. The patients were evaluated in detail by neuroimaging and other tests.
Brain and spinal cord MRI were done in all the patients followed by nerve conduction. Ethical approval
was obtained from institutional ethical committee.
Statistical analysis used: SPSS version 21.0
Results: Total numbers of patients were 12. Male to female ratio was 2:1. Most common presentation was
unsteadiness of gait and other cerebellar signs. 25% patients (3/12) had ejection fraction reduced. Optic
nerve atrophy was found in approximately 25% of individuals. Atrophy of the cervical spinal cord and
cerebellum were observed in 58% (7/12) cases in MRI.
Conclusions: FA is one of the commonest recessive ataxias of young people. It presents progressive ataxia
and large fibre neuropathy with multisystem involvement. Usually it has very bad prognosis with cardiac
Key Messages: FA is one of the common cause of genetic ataxia. It is a multisystem disease with
involvement of both central nervous system and peripheral nervous system. The knowledge of FA is
necessary for early diagnosis and genetic counselling.

Keywords: Ataxia, myeloneuropathy, friedreich’s, frataxin

Doi : 10.18231/j.ijn.2019.033

How to cite : Mallick A K, Mishra S , Mohanty G , Nayak S D, Profile of Friedreich’s ataxia in a tertiary neurology institute: a study from eastern India. IP Indian J Neurosci 2019;5(4):203-205

Copyright © 2019 by author(s) and IP Indian J Neurosci. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (CC-BY-NC 4.0) (