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

Neurology. 2000 Aug 22;55(4):579-81. doi: 10.1212/wnl.55.4.579.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Atrophy / etiology
  • Brain / diagnostic imaging
  • Brain / pathology
  • Child
  • Chromosomes, Human, Pair 13 / genetics
  • DNA Mutational Analysis
  • Disease Progression
  • Female
  • Finland / epidemiology
  • Genotype
  • Heterozygote
  • Homozygote
  • Humans
  • Lysosome-Associated Membrane Glycoproteins
  • Magnetic Resonance Imaging
  • Male
  • Membrane Proteins / genetics*
  • Mutation
  • Neuronal Ceroid-Lipofuscinoses / diagnosis
  • Neuronal Ceroid-Lipofuscinoses / epidemiology
  • Neuronal Ceroid-Lipofuscinoses / genetics*
  • Phenotype
  • Tomography, X-Ray Computed

Substances

  • CLN5 protein, human
  • Lysosome-Associated Membrane Glycoproteins
  • Membrane Proteins