%0 Online Multimedia %A Vedartham, Veena %A Sundaram, Soumya %A Nair, Sruthi S %A Ganapathy, Aparna %A Mannan, Ashraf %A Menon, Ramshekhar %D 2019 %T Homozygous sequestosome 1 (SQSTM1) mutation: a rare cause for childhood-onset progressive cerebellar ataxia with vertical gaze palsy %U https://tandf.figshare.com/articles/media/Homozygous_sequestosome_1_i_SQSTM1_i_mutation_a_rare_cause_for_childhood-onset_progressive_cerebellar_ataxia_with_vertical_gaze_palsy/9853325 %R 10.6084/m9.figshare.9853325.v1 %2 https://tandf.figshare.com/ndownloader/files/17665880 %K Ataxia %K SQSTM1 %K sequestosome 1 %K NGS %K vertical gaze palsy %K p62 %K eye movement abnormalities %X

Mutations in sequestosome 1 (SQSTM1) gene are associated with neurodegenerative diseases, such as frontotemporal dementia and amyotrophic lateral sclerosis. Recently, mutation in SQSTM1 was also found to cause a progressive childhood-onset cerebellar ataxia. We describe here a case of progressive childhood-onset cerebellar ataxia with vertical supra nuclear gaze palsy with no family history and a normal magnetic resonance imaging (MRI) of brain. The clinical exome sequencing in this patient showed a homozygous mutation in SQSTM1. This case highlights the importance of next-generation sequencing in the diagnosis of inherited ataxia syndromes. SQSTM1 mutation should be considered in the differential diagnosis in a patient with both cerebellar ataxia and ophthalmological manifestations.

%I Taylor & Francis