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Article

Molecular genetics of the NCLs -- status and perspectives.

Biochimica et biophysica acta - 1 Oct 2006

Siintola Eija, Lehesjoki Anna-Elina, Mole Sara E

Abstract excerpt

The neuronal ceroid lipofuscinoses (NCLs) are a group of inherited neurodegenerative disorders characterized by the accumulation of autofluorescent storage material in many cell types, including neurons. Most NCL subtypes are inherited in an autosomal recessive manner and characterized clinically by epileptic seizures, progressive psychomotor decline, visual failure, variable age of onset, and premature death. To...

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Source

Identifiers

PMID: 16828266
DOI: 10.1016/j.bbadis.2006.05.006

Genes

NCL

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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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