ArticleNeurogenetics2006
Novel mutations in CLN8 in Italian variant late infantile neuronal ceroid lipofuscinosis: Another genetic hit in the Mediterranean.
Article in Neurogenetics, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers, 1 of them a synthesis that pooled it.
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Who cites it
17 citing papers in PubMed, 1 synthesis or guideline pooled it, 53 citations in OpenAlex.
- The Neuronal Ceroid Lipofuscinoses-Linked Loss of Function CLN5 and CLN8 Variants Disrupt Normal Lysosomal Function.Neuromolecular medicine · 2019Pooled it
- The Batten disease protein CLN8 is a stereospecific acyltransferase in bis(monoacylglycero)phosphate biosynthesis.Nature cell biology · 2026Article
- A novel myopathy with autophagic vacuoles associated with biallelic variants in CLN8.Brain pathology (Zurich, Switzerland) · 2026Article
- Review
- Article
- Article
- AAV9 Gene Therapy Increases Lifespan and Treats Pathological and Behavioral Abnormalities in a Mouse Model of CLN8-Batten Disease.Molecular therapy : the journal of the American Society of Gene Therapy · 2021Article
- The CLN3 gene and protein: What we know.Molecular genetics & genomic medicine · 2019Review
- CLN8 is an endoplasmic reticulum cargo receptor that regulates lysosome biogenesis.Nature cell biology · 2018Article
- Identification of two novel null variants in CLN8 by targeted next-generation sequencing: first report of a Chinese patient with neuronal ceroid lipofuscinosis due to CLN8 variants.BMC medical genetics · 2018Article
- CLN8 disease caused by large genomic deletions.Molecular genetics & genomic medicine · 2017Article
- Atypical presentation of neuronal ceroid lipofuscinosis type 8 in a sibling pair and review of the eye findings and neurological features.American journal of ophthalmology case reports · 2016Article
- Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy.Orphanet journal of rare diseases · 2013Article
- Article
- Therapeutic approaches to the challenge of neuronal ceroid lipofuscinoses.Current pharmaceutical biotechnology · 2011Review
- Interactions of the proteins of neuronal ceroid lipofuscinosis: clues to function.Cellular and molecular life sciences : CMLS · 2011Review
- The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter.American journal of human genetics · 2007Article
Corrections and comments
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Authors and funding
13 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Neuronal ceroid lipofuscinoses (NCLs) are autosomal recessive neurodegenerative disorders typically characterized by the accumulation of autofluorescent material in tissues. On the basis of clinical features, age at onset, and molecular genetic defects, it is possible to distinguish at least nine forms. The CLN8 form was first described in Finland, where all the patients are homozygous for a p.Arg24Gly mutation in CLN8. More recently, it has been found that a subset of a Turkish variant of late infantile NCL (v-LINCL) is also associated with CLN8 mutations. To identify the molecular defect in Italian patients with v-LINCL, the CLN8 gene was directly sequenced in 10 patients. Controls were screened by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis. Five fluorescent-labeled microsatellite markers covering 1 cM around the gene were used for haplotype analysis. In three Italian v-LINCL patients, identified in a small area in southern Italy, we detected four new mutations in CLN8: c.66delG (p.Gly22fs), c.88G>C (p.Ala30Pro), c.473A>G (p.Tyr158Cys), and c.581A>G (p.Gln194Arg). The single-base deletion was found in two unrelated patients. The novel missense mutations were not identified in ethnically matched control chromosomes. Our findings expand the number of CLN8 variants and corroborate the notion that CLN8 patients are not confined to the Finnish population.
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