Phenotype-genotype correlation in eight patients with Finnish variant late infantile NCL (CLN5).

• 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.

Nyckelord

Adolescent

Adult

Atrophy

etiology

Brain

pathology

radiography

Child

Chromosomes

Human

Pair 13

genetics

DNA Mutational Analysis

Disease Progression

Female

Finland

epidemiology

Genotype

Heterozygote

Homozygote

Humans

Magnetic Resonance Imaging

Male

Membrane Proteins

genetics

Mutation

Neuronal Ceroid-Lipofuscinoses

diagnosis

epidemiology

genetics

Phenotype

Tomography

X-Ray Computed

Publikations- och innehållstyp

ref (ämneskategori)

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