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GENATLAS PHENOTYPE
last update : 28-06-2013
Symbol CLN1
Location 1p34.2
Name ceroid-lipofuscinosis, neuronal, 1
Other name(s)
  • Haltia-Santavuori disease
  • infantile neuronal ceroid-lipofuscinosis
    • Corresponding gene PPT1
    related resource Neuronal Ceroid Lipofuscinoses
    Other symbol(s) INCL,SVD
    Main clinical features
  • infantile, Finnish type, an early onset, mental deterioration and ataxia, myoclonic jerks, progressive microcephaly, macular and peripheral retinal degeneration with an extinguished ERG, a progressive slowing of EEG,
    • neuropathologically almost complete loss of cortical neurons, a fibrillary astrocytic gliosis and storage of saposins A and D, leading to inactivity and death after a few years, including the variant form with a delayed onset and granular osmiophilic deposits (GROD)
    Genetic determination autosomal recessive
    Prevalence 1/100000
    Function/system disorder metabolism/lysosomal
    neurology
    eye
    Type disease
    Gene product
    Name palmitoyl thioesterase (PPT1)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    various types   abnormal protein/loss of function R151X prominent in Europeans and Americans R122X prominent in Finnish, causing ER-stress, leading to activation of the CASP9 pathway of apoptosis, with elevation of brain GAP43, apoptosis and neurodegeneration
    Remark(s)
  • structural changes in group 1, which exhibits a complete deficiency of PPT1 activity, were generally large and located in the core region of the enzyme molecule, and in group 2 exhibiting residual PPT1 activity, the structural changes in PPT1 were smaller and localized near the surface of the enzyme molecule (PMID: 19793631))