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Article

p.Asn77Lys homozygous CLN6 mutation in two unrelated Japanese patients with Kufs disease, an adult onset neuronal ceroid lipofuscinosis.

Clinica chimica acta; international journal of clinical chemistry - 1 Dec 2021

Onodera Misaki, Tsujimoto Saori, Doi Syusuke, Yamashita Arisa, Yamazaki Tetsuo, Makifuchi Takao, Inazu Tetsuya

Abstract excerpt

BACKGROUND: The neuronal ceroid lipofuscinosis (NCL) are a group of autosomal recessive neurodegenerative disorders that are characterized by the accumulation of ceroid lipofuscins. The NCLs are categorized into four classes based on the age of onset. Kufs disease is a rare adult-onset NCL caused by mutations in the CLN6 gene, which is rarely observed in the Japanese population. CASE: We previously reported a...

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PMID: 34597687
DOI: 10.1016/j.cca.2021.09.021

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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