RT Journal Article
SR Electronic
T1 CSF insulin-like growth factor-1 in infantile neuronal ceroid lipofuscinosis
JF Neurology
JO Neurology
FD Lippincott Williams & Wilkins
SP 1828
OP 1832
DO 10.1212/WNL.54.9.1828
VO 54
IS 9
A1 Riikonen, R.
A1 Vanhanen, S.-L.
A1 Tyynelä, J.
A1 Santavuori, P.
A1 Turpeinen, U.
YR 2000
UL http://n.neurology.org/content/54/9/1828.abstract
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.