Homozygous sequestosome 1 (SQSTM1) mutation: a rare cause for childhood-onset progressive cerebellar ataxia with vertical gaze palsy

ABSTRACT

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.

KEYWORDS:

• Ataxia
• SQSTM1
• sequestosome 1
• NGS
• vertical gaze palsy
• p62
• eye movement abnormalities

Acknowledgments

We acknowledge the patient’s family for granting permission to publish this information.

Author contributions

Dr. Veena Vedartham: study design, acquisition of data and drafting of manuscript

Dr. Soumya Sundaram: study concept, design and critical revision of manuscript

Dr. Sruthi Nair: Interpretation and critical revision of manuscript

Dr. Aparna Ganapathy: acquisition of data and drafting of manuscript

Dr. Ashraf Mannan: acquisition of data and drafting of manuscript

Dr. Ramshekhar Menon: Interpretation and critical revision of manuscript

Disclosure statement

No potential conflict of interest were reported by the authors.

Supplementary Material

Supplemental data for this article can be accessed at https://doi.org/10.1080/13816810.2019.1666414.