CSF insulin-like growth factor-1 in infantile neuronal ceroid lipofuscinosis.
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.
Riikonen
R
R
University Hospital of Kuopio, Helsinki, Finland. raili.riikonen@kolumbus.fi
Vanhanen
S L
SL
Tyynelä
J
J
Santavuori
P
P
Turpeinen
U
U
D017209:Apoptosis / Q000502:physiology; D001706:Biopsy; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D018972:Insulin-Like Growth Factor Binding Protein 3 / Q000134:cerebrospinal fluid; D007334:Insulin-Like Growth Factor I / Q000134:cerebrospinal fluid*; D008297:Male; D009186:Myelin Sheath / Q000473:pathology; D009472:Neuronal Ceroid-Lipofuscinoses / Q000134:cerebrospinal fluid / Q000175:diagnosis* / Q000473:pathology; D009474:Neurons / Q000473:pathology; D011863:Radioimmunoassay
D018972:Insulin-Like Growth Factor Binding Protein 3; D007334:Insulin-Like Growth Factor I