Low Insulin-Like Growth Factor (IGF-1) in the Cerebrospinal Fluid of Children with Progressive Encephalopathy, Hypsarrhythmia, and Optic Atrophy (PEHO) Syndrome and Cerebellar Degeneration
Article first published online: 2 AUG 2005
Volume 40, Issue 11, pages 1642–1648, November 1999
How to Cite
Riikonen, R., Somer, M. and Turpeinen, U. (1999), Low Insulin-Like Growth Factor (IGF-1) in the Cerebrospinal Fluid of Children with Progressive Encephalopathy, Hypsarrhythmia, and Optic Atrophy (PEHO) Syndrome and Cerebellar Degeneration. Epilepsia, 40: 1642–1648. doi: 10.1111/j.1528-1157.1999.tb02051.x
- Issue published online: 2 AUG 2005
- Article first published online: 2 AUG 2005
- Accepted March 16, 1999.
- Insulin-like growth factor;
- PEHO syndrome
Summary: Purpose: In patients with progressive encephalopathy, hypsarrhythmia, and optic atrophy (PEHO) syndrome, the pathophysiology underlying early progressive cerebellar and brainstem degeneration and severe epilepsy is unknown. Because insulin-like growth factor (IGF)-1 has been shown significantly to promote survival of cerebellar neurons, we wanted to see if the IGF system played a role in the pathogenesis of cerebellar atrophy.
Methods: We used a sensitive enzyme immunoassay kit for measuring cerebrospinal fluid (CSF) IGF-1 and insulin-like growth-binding protein (IGFBP)-3 in four groups of patients: PEHO syndrome patients (eight), PEHO-like patients (seven), age-matched controls (31), and patients with other types of cerebellar atrophy (11).
Results: Patients with PEHO syndrome and those with other progressive, degenerative cerebellar diseases had lower levels of CSF IGF-1 than the controls with other neurologic diseases. The CSF IGF-1 also allowed us to differentiate the “true” PEHO patients from the “PEHO-like” patients (those with similar clinical symptoms but without the typical neuroophthal-mologic or neuroradiologic findings). The concentrations of IGFBP-3 did not significantly differ in any of the patient or control groups studied.
Conclusions: CSF IGF-1 levels might be used as a marker of the degeneration of neurons in specific areas.