CACH syndrome - LEUKOTREAT, therapeutic strategies for leukodystrophy affected patients

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04/12/2013

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CACH syndrome

CACH/VWM syndrome is due to mutations in the eukaryotic initiation factor 2B (EIF2B).

EIF2B is a general translation factor expressed in every cell type. Importantly eIF2B activity is tightly regulated by a variety of cellular stresses. The wide clinical spectrum observed from congenital rapidly lethal forms to slowly progressive adult forms is correlated to the level of EIF2B activity. The diffuse vacuolation of the white matter is associated with myelin loss despite an increasing number of oligodendrocytes and dysmorphic astrocytes. A deficiency in astrocyte maturation may contribute to the abnormal white matter biogenesis and maintenance observed in patients.

Clinical symptoms are variable, from fatal infantile forms (Cree leukoencephalopathy) and congenital forms associated with extra-neurological affections, to juvenile and adult forms (ovarioleukodystrophy) characterized by cognitive and behavioural dysfunctions and by a slow progression of the disease, leading to the term of eIF2B-related leukoencephalopathies.

For detailed information about CACH syndrome, read the corresponding review on the NCBI website (National Centre for Biotechnology Information).