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CSF insulin-like growth factor-1 in infantile neuronal ceroid lipofuscinosis

From the University Hospital of Kuopio (Dr. Riikonen); the Hospital for Children and Adolescents (Drs. Vanhanen and Santavuori), Helsinki; the Institute of Biomedicine (Dr. Tyynelä), University of Helsinki; and the Helsinki University Central Hospital Laboratory (Dr. Turpeinen), Finland.

Address correspondence and reprint requests to Dr. Raili Riikonen, Kajavatie 7, 06100 Porvoo, Finland; e-mail: raili.riikonen{at}kolumbus.fi

BACKGROUND: Infantile neuronal ceroid lipofuscinosis (INCL) is a progressive encephalopathy in which the patients are severely disabled by the age of 3 years. It is characterized by cerebral atrophy, selective loss of cortical neurons, and secondary loss of axons and myelin sheaths of the white matter. INCL has been shown to result from a palmitoyl protein thioesterase deficiency. The authors suggested that insulin-like growth hormones and apoptosis might play a role in the pathogenesis of INCL.

METHODS: The authors measured insulin-like growth factor-1 (IGF-1) and IGF binding protein 3 (IGFBP-3) in the CSF of patients with INCL by radioimmunoassay at an early stage when myelin was starting to diminish.

RESULTS: The authors found low CSF IGF-1 but normal IGFBP-3 in patients with INCL compared with control subjects. Also, they observed apoptotic cell death in biopsies of INCL patients.

CONCLUSIONS: Because the IGF system seems to be important for early brain development, myelination, and neuroprotection, the authors suggest that the pathology in INCL may be associated with low CSF IGF-1.

Key words: CSF insulin-like growth factor-1—Infantile neuronal ceroid lipofuscinosis—Apoptosis

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