title: Phenotype-genotype correlation in eight patients with Finnish variant late infantile NCL (CLN5).
abstract: The authors analyzed the clinical phenotype, including MRI, of eight patients with Finnish variant late infantile neuronal ceroid lipofuscinosis (vLINCLFin; CLN5; MIM256731). Although the four known mutations, including one novel mutation identified in this study, have very different consequences for the predicted polypeptide, none of them results in an atypical phenotype, as has been reported in other forms of NCL. Thus, it seems likely that each mutation severely disturbs the normal function of the CLN5 protein.
authors.affiliation: Department of Human Molecular Genetics, National Public Health Institute, Helsinki. Ville.Holmberg@ktl.fi
authors.forename: V
authors.initials: V
authors.lastname: Holmberg
authors.forename: L
authors.initials: L
authors.lastname: Lauronen
authors.forename: T
authors.initials: T
authors.lastname: Autti
authors.forename: P
authors.initials: P
authors.lastname: Santavuori
authors.forename: M
authors.initials: M
authors.lastname: Savukoski
authors.forename: P
authors.initials: P
authors.lastname: Uvebrant
authors.forename: I
authors.initials: I
authors.lastname: Hofman
authors.forename: L
authors.initials: L
authors.lastname: Peltonen
authors.forename: I
authors.initials: I
authors.lastname: Järvelä
mesh_terms: D000293:Adolescent; D000328:Adult; D001284:Atrophy / Q000209:etiology; D001921:Brain / Q000000981:diagnostic imaging / Q000473:pathology; D002648:Child; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics; D004252:DNA Mutational Analysis; D018450:Disease Progression; D005260:Female; D005387:Finland / Q000453:epidemiology; D005838:Genotype; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D051907:Lysosomal Membrane Proteins; D008279:Magnetic Resonance Imaging; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D009472:Neuronal Ceroid-Lipofuscinoses / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D010641:Phenotype; D014057:Tomography, X-Ray Computed
chemical_list: C113332:CLN5 protein, human; D051907:Lysosomal Membrane Proteins; D008565:Membrane Proteins