Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis

Jouni Vesa, Elina Hellsten, Linda A. Verkruyse, Laura A. Camp, Juhani Rapola, Pirkko Santavuori, Sandra L. Hofmann, Leena Peltonen

Research output: Contribution to journalArticlepeer-review

629 Scopus citations


Neuronal ceroid lipofuscinoses (NCL) represent a group of common progressive encephalopathies of children which have a global incidence of 1 in 12,500 (ref. 1). These severe brain diseases are divided into three autosomal recessive subtypes, assigned to different chromosomal loci2-4. The infantile subtype of NCL (INCL), linked to chromosome 1p32, is characterized by early visual loss and rapidly progressing mental deterioration, resulting in a flat electroencephalogram by 3 years of age; death occurs at 8 to 11 years5, and characteristic storage bodies are found in brain and other tissues at autopsy6. The molecular pathogenesis underlying the selective loss of neurons of neocortical origin has remained unknown. Here we report the identification, by positional candidate methods, of defects in the palmitoyl-protein thioesterase gene in all 42 Finnish INCL patients and several non-Finnish patients. The most common mutation results in intracellular accumulation of the polypeptide and undetectable enzyme activity in the brain of patients.

Original languageEnglish (US)
Pages (from-to)584-587
Number of pages4
Issue number6541
StatePublished - Aug 17 1995

ASJC Scopus subject areas

  • General


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