Defective myelin lipid synthesis as a pathogenic mechanism of Canavan disease.
Defective myelin lipid synthesis as a pathogenic mechanism of Canavan disease.
复制标题
髓磷脂脂质合成缺陷是卡纳万病的致病机制。
DOI：
10.1007/0-387-30172-0_10
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发表时间：
2006
影响因子：
--
通讯作者：
Madhavarao,ChikkathurN
中科院分区：
文献类型：
--
作者：
Namboodiri,AryanMA;Moffett,JohnR;Arun,Peethambaran;Mathew,Raji;Namboodiri,Sreela;Potti,Asha;Hershfield,Jeremy;Kirmani,Batool;Jacobowitz,DavidM;Madhavarao,ChikkathurN
Canavan disease was first reported by Myrtelle Canavan in 1931 and was recognized as a distinct disease by Van Bogaert and Bertrand in 1949. 1 The clinical symptoms of CD include poor head control, macrocephaly, marked developmental delay, optic atrophy, seizures, hypotonia and death in early childhood. 2-4 Three clinical variants of CD are recognized: 1) the neonatal form in which the disease is more severe and is recognizable in the first few weeks of life, 2) the infantile form, the most common form in which the disease is apparent by 6 months of age and 3) the juvenile form in which the disease manifests only by age 4 or 5. 4-6The pathologies associated with Canavan disease include cortical and subcortical spongy degeneration, a lack of myelination, accumulation of water in the brain, and hypertrophy and hyperplasia of astrocytes. 1, 7-9 Ultrastructural studies have demonstrated intramyelinic vacuolation, intense astrocyte swelling and unusually elongated mitochondria within those astrocytes, and most of these changes are detectable in the recent mouse model. 4, 10-13
