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Article

Sex-dependent clinical divergence in adult-onset CLN6-Batten disease: a case study of a Chinese brother-sister pair.

Neurocase - 1 Aug 2026

Liu Shu-Ya, Tsai Shih-Jen, Liu Mu-N

Abstract excerpt

Neuronal ceroid lipofuscinoses (NCLs) are rare, genetically heterogeneous neurodegenerative disorders involving progressive cognitive, motor, and psychiatric decline. Adult-onset CLN6 disease (Kufs type) is extremely uncommon, typically emerging after age 30 with seizures, ataxia, and gradual functional deterioration. We report a Chinese brother - sister pair carrying identical compound heterozygous CLN6...

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Identifiers

PMID: 42523144
DOI: 10.1080/13554794.2026.2704842

Genes

CLN6

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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