ReviewMolecular genetics & genomic medicine2020
SQSTM1 mutation: Description of the first Tunisian case and literature review.
Review in Molecular genetics & genomic medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 12 citations in OpenAlex.
- Novel Biallelic SQSTM1 Mutation Causing a Subacute-Onset Complex Movement Disorder with Oculomotor Abnormalities.Movement disorders clinical practice · 2025Article
- Novel SQSTM1 (c.838G>T) Mutation Identified in Two Unrelated Cases of Cerebellar Ataxia and Gaze Palsy.Advanced biomedical research · 2025Article
- A Novel Variant in SQSTM1 Gene Causing Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy in a Peruvian Family.Movement disorders clinical practice · 2024Article
- Neurodegeneration, Ataxia, Dystonia, and Gaze Palsy (NADGP) Syndrome with Nocturnal Paroxysmal Head Tremor.Movement disorders clinical practice · 2023Article
- Frameshift mutation in SQSTM1 causes proximal myopathy with rimmed vacuoles: A case report.Frontiers in neurology · 2023Article
- Movement Disorders Associated with Hypogonadism.Movement disorders clinical practice · 2021Review
Corrections and comments
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundMutations in SQSTM1 gene have been recently identified as a rare cause of progressive childhood neurodegenerative disorder. So far, only 25 patients from 10 unrelated families were reported. METHODS AND
resultsWe report on the first Tunisian case of an 11-year-old girl with cerebellar ataxia, chorea and ophthalmoparesis. Brain MRI was normal. Whole-exome sequencing revealed a homozygous mutation c.823_824del(p.Ser275Phefs*17) in SQSTM1 gene (GenBank: NM_003900.4).
conclusionBy pooling our data to the data of literature, we delineated the phenotypic spectrum and stressed on genetic heterogeneity of this rare neurodegenerative disease.
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