PT  - JOURNAL ARTICLE
AU  - Riikonen, R.
AU  - Vanhanen, S.-L.
AU  - Tyynelä, J.
AU  - Santavuori, P.
AU  - Turpeinen, U.
TI  - CSF insulin-like growth factor-1 in infantile neuronal ceroid lipofuscinosis
AID  - 10.1212/WNL.54.9.1828
DP  - 2000 May 09
TA  - Neurology
PG  - 1828--1832
VI  - 54
IP  - 9
4099  - http://n.neurology.org/content/54/9/1828.short
4100  - http://n.neurology.org/content/54/9/1828.full
SO  - Neurology2000 May 09; 54
AB  - 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.