American Research Journal of Clinical Case Reports      cover
Open Access

American Research Journal of Clinical Case Reports

ISSN (Online): 2639-3069

DOI: 10.46568/arjccr

Research Article Vol. 2, Issue 1 2022 Open Access

Spinocerebellar Ataxia 17: A clinical Rubik’s cube

Dr.Rahul Jain    

Dr Pankaj Rathi 

Dr. Hashash Singh Ishar 

 Dr Kapil Telang 

Dr Dinesh Chouksey

Dr Ajoy Sodani 

Abstract

Spinocerebellar ataxia 17 (SCA 17) has been recognized as one of the most heterogeneous forms of autosomal dominant cerebellar ataxia (ADCA), with a wide clinical spectrum at presentation. SCA17 presenting as Huntington disease like-4 (HDL-4) phenotype has been observed only sporadically or in solitary individuals within a family. We report the case of a young Indian male who presented with juvenile Parkinsonism (HDL like phenotype) features without family history subsequently diagnosed as SCA17.