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Article

A novel homozygous CLN6 Tyr142Cys variant in a nonconsanguineous family with Kufs disease.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Sept 2024

Chen Boli, Liu Yue, Cai Naiqing, Wang Ning, Yang Kang

Abstract excerpt

BACKGROUND: Neuronal ceroid lipofuscinoses are a genetically heterogeneous group of inherited lysosomal storage disorders. Kufs disease is the predominant form of neuronal ceroid lipofuscinosis in adults, but it's rare and challenging to diagnose. CASE DESCRIPTION: The proband initially presented with cognitive deterioration and parkinsonian traits. At 35, he was admitted to hospital following a tonic-clonic...

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Source

Identifiers

PMID: 38771523
DOI: 10.1007/s10072-024-07579-5

Genes

CLN6

Variants

Provenance

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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