Synaptic nuclear envelope Protein 1 (SYNE 1) ataxia with amyotrophic lateral sclerosis-like presentation: A novel synaptic nuclear envelope Protein 1 (SYNE 1) gene deletion mutation from India

Synaptic nuclear envelope Protein 1 (SYNE 1) ataxia with amyotrophic lateral sclerosis-like presentation: A novel synaptic nuclear envelope Protein 1 (SYNE 1) gene deletion mutation from India

A 24-year-old female presented with wasting and weakness of both hands and fasciculations over the chin since 12 years, followed by imbalance while walking and speech changes since 10 years. Her 12-year-old sister also had a similar clinical presentation. There were fasciculations over the chin, ton...

Full description

Bibliographic Details
Main Authors: Swaleha Nurulla Nadaf, Rahul T Chakor, Kaumil V Kothari, Ashraf U Mannan
Format: Article
Language:English
Published: Wolters Kluwer Medknow Publications 2020-01-01
Series:Annals of Indian Academy of Neurology
Subjects:
autosomal recessive cerebellar ataxia 1 ataxia
amyotrophic lateral sclerosis
motor neuron disease
spinocerebellar ataxia of recessive ataxia
synaptic nuclear envelope protein 1 ataxia
Online Access:http://www.annalsofian.org/article.asp?issn=0972-2327;year=2020;volume=23;issue=4;spage=539;epage=541;aulast=Nadaf

Internet

http://www.annalsofian.org/article.asp?issn=0972-2327;year=2020;volume=23;issue=4;spage=539;epage=541;aulast=Nadaf

Similar Items