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Article

Clinical and genetic characterization of a cohort of 97 CLN6 patients tested at a single center.

Orphanet journal of rare diseases - 3 May 2022

Rus Corina-Marcela, Weissensteiner Thomas, Pereira Catarina, Susnea Iuliana, Danquah Bright D, Morales Torres Galina, Rocha Maria Eugenia, Cozma Claudia, Saravanakumar Deepa, Mannepalli Sumanth, Kandaswamy Krishna K, Di Bucchianico Sebastiano, Zimmermann Ralf, Rolfs Arndt, Bauer Peter, Beetz Christian

Abstract excerpt

BACKGROUND: Ceroid lipofuscinoses neuronal 6 (CLN6) disease belongs to the neuronal ceroid lipofuscinoses (NCLs), complex and genetically heterogeneous disorders with wide geographical and phenotypic variation. The first clinical signs usually appear between 18 months and 8 years, but examples of later-onset have also been reported. Common manifestations include ataxia, seizures, vision impairment, and...

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Identifiers

PMID: 35505348
DOI: 10.1186/s13023-022-02288-8
PMCID: PMC9066917

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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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