American Research Journal of Clinical Case Reports
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 

Affiliation

Department of Neurology (4th floor), Indore-Ujjain Highway, Indore (M.P.)

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.  

Citation

: Dr Rahul Jain, ”Spinocerebellar Ataxia 17: A clinical Rubik’s cube”. American Research Journal of Clinical Case Reports