Vedartham, Veena Sundaram, Soumya Nair, Sruthi S Ganapathy, Aparna Mannan, Ashraf Menon, Ramshekhar Homozygous sequestosome 1 (<i>SQSTM1</i>) mutation: a rare cause for childhood-onset progressive cerebellar ataxia with vertical gaze palsy <p>Mutations in sequestosome 1 (<i>SQSTM1</i>) gene are associated with neurodegenerative diseases, such as frontotemporal dementia and amyotrophic lateral sclerosis. Recently, mutation in <i>SQSTM1</i> 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 <i>SQSTM1</i>. This case highlights the importance of next-generation sequencing in the diagnosis of inherited ataxia syndromes. <i>SQSTM1</i> mutation should be considered in the differential diagnosis in a patient with both cerebellar ataxia and ophthalmological manifestations.</p> Ataxia;SQSTM1;sequestosome 1;NGS;vertical gaze palsy;p62;eye movement abnormalities 2019-09-16
    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
10.6084/m9.figshare.9853325.v1