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A Novel Synonymous Variant in SQSTM1 Causes Neurodegeneration With Ataxia, Dystonia, and Gaze Palsy Revealed by Urine-Derived Cells-Based Functional Analysis.

Molecular genetics & genomic medicine - 1 Nov 2024

Masuko Shinji, Sato Mitsuto, Nakamura Katsuya, Hamanaka Kohei, Miyatake Satoko, Inaba Yuji, Kosho Tomoki, Matsumoto Naomichi, Sekijima Yoshiki

Abstract excerpt

BACKGROUND: Heterozygous variants of sequestosome-1 gene (SQSTM1) have been reported in patients with various neurological disorders, whereas biallelic pathogenic variants of SQSTM1 can cause child-onset and multisystem neurodegeneration, including cerebellar ataxia, dystonia, and vertical gaze palsy (NADGP). Here, we describe two cases of NADGP in a Japanese family. METHODS: We performed clinical and genetic...

Topics

Humans
Sequestosome-1 Protein
Male
Female
Dystonia
Cerebellar Ataxia
Pedigree
Adult
Heterozygote
Ocular Motility Disorders

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Ataxia

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PMID: 39587727
DOI: 10.1002/mgg3.70044
PMCID: PMC11588856

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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