期刊
OPHTHALMIC GENETICS
卷 40, 期 4, 页码 376-379出版社
TAYLOR & FRANCIS INC
DOI: 10.1080/13816810.2019.1666414
关键词
Ataxia; SQSTM1; sequestosome 1; NGS; vertical gaze palsy; p62; eye movement abnormalities
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.
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