Homozygous sequestosome 1 () mutation: a rare cause for childhood-onset progressive cerebellar ataxia with vertical gaze palsy.

Mutations in sequestosome 1 () gene are associated with neurodegenerative diseases, such as frontotemporal dementia and amyotrophic lateral sclerosis. Recently, mutation in 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 . This case highlights the importance of next-generation sequencing in the diagnosis of inherited ataxia syndromes. mutation should be considered in the differential diagnosis in a patient with both cerebellar ataxia and ophthalmological manifestations.