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Article

[Clinical and genetic description of neuronal ceroid lipofuscinosis 6 type in the yakut family].

Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova - 1 Jan 2021

Golikova P I, Petukhova D A, Sukhomyasova A L, Nikolaeva T Ya, Gurinova E E, Ivanova R N, Maksimova N R

Abstract excerpt

Neuronal ceroid lipofuscinosis type 6 (NCL 6) is a rare progressive neurodegenerative disease that belongs to the group of lysosomal storage diseases. A clinical and genetic description of NCL 6 in a Yakut family was carried out. The proband and her sibling showed characteristic clinical signs, including myoclonic epilepsy, ataxia, psychomotor regression, dementia, and visual impairment. The onset of the disease...

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PMID: 34481439
DOI: 10.17116/jnevro202112108171

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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