Annals of Indian Academy of Neurology
SHORT COMMUNICATION
Year
: 2018  |  Volume : 21  |  Issue : 4  |  Page : 304--308

Giant axonal neuropathy: Clinical, radiological, and genetic features


Meenal Garg1, Shilpa D Kulkarni1, Anaita Udwadia Hegde1, Margi Desai2, Rafat J Sayed1 
1 Department of Pediatric Neurosciences, Bai Jerbai Wadia Hospital for Children, Mumbai, India
2 Consultant Electrophysiologist, SRL Diagnostics, Mumbai, India

Correspondence Address:
Dr. Meenal Garg
Department of Pediatric Neurosciences, Bai Jerbai Wadia Hospital for Children, Parel, Mumbai - 400 012, Maharashtra
India

Introduction: Giant axonal neuropathy (GAN) is an inherited neurodegenerative disorder caused by mutations in the GAN gene. It affects both the central and peripheral nervous systems. We discuss clinical, electrophysiological, radiological and genetic features in three new unrelated patients with GAN. Methods: Three pediatric patients with suspected GAN were included. The diagnosis was considered in patients with early onset polyneuropathy and characteristic hair with central nervous system involvement or suggestive neuroimaging findings. Biochemical, metabolic and electrophysiological investigations were performed. Diagnosis was confirmed by targeted sequencing of the GAN gene. Results: All the three patients were found to have biallelic mutations in GAN gene. Peripheral neuropathy, characteristic hair, and cerebellar dysfunction were present in all three while bony deformities, cranial nerve involvement and intellectual disability were seen variably. Neuroimaging showed a spectrum of findings which are discussed. Conclusion: GAN is a clinically and radiologically heterogeneous disease where genetic testing is necessary for a definite diagnosis and counselling. With facilities for testing becoming increasingly available, the spectrum is likely to expand further.


How to cite this article:
Garg M, Kulkarni SD, Hegde AU, Desai M, Sayed RJ. Giant axonal neuropathy: Clinical, radiological, and genetic features.Ann Indian Acad Neurol 2018;21:304-308


How to cite this URL:
Garg M, Kulkarni SD, Hegde AU, Desai M, Sayed RJ. Giant axonal neuropathy: Clinical, radiological, and genetic features. Ann Indian Acad Neurol [serial online] 2018 [cited 2020 Oct 1 ];21:304-308
Available from: http://www.annalsofian.org/article.asp?issn=0972-2327;year=2018;volume=21;issue=4;spage=304;epage=308;aulast=Garg;type=0