| 概要 |
Childhood-onset remitting leukodystrophy (CORLK) is a novel white matter disease characterized by a sudden loss of all previously acquired abilities around 1 year of age followed by almost complete recovery within 2 years. Cerebral MRI showed a pronounced demyelination that progressed for several months despite signs of clinical improvement and was followed by remyelination. It has been reported that a mutation in FBP2 associates with this disease. FBP2 encodes the muscle fructose 1,6-bisphosphatase, an enzyme involved in gluconeogenesis that is highly expressed in brain tissue.
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| 著者 |
Gizak A, Diegmann S, Dreha-Kulaczewski S, Wisniewski J, Duda P, Ohlenbusch A, Huppke B, Henneke M, Hohne W, Altmuller J, Thiele H, Nurnberg P, Rakus D, Gartner J, Huppke P |
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