Allogenic bone marrow transplantation for late‐infantile neuronal ceroid lipofuscinosis
Allogenic bone marrow transplantation for late‐infantile neuronal ceroid lipofuscinosis
复制标题
同种异体骨髓移植治疗晚期婴儿神经元蜡质脂褐质沉积症
DOI：
10.1111/j.1442-200x.2005.02126.x
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发表时间：
2005
影响因子：
1.4
通讯作者：
Y. Eto
中科院分区：
文献类型：
--
作者：
Y. Yuza;Kentaro Yokoi;K. Sakurai;Masamichi Ariga;T. Yanagisawa;T. Ohashi;Y. Hoshi;Y. Eto
Late-infantile neuronal ceroid lipofuscinosis (NCL2; 204500) is a rare progressive neurodegenerative disorder with an autosomal recessive inheritance. NCL2 shows progressive myoclonic epilepsy and neurological deterioration with an onset usually between 2 and 4 years of age. The progressive loss of neurological function leads to premature death in the first or second decade of life. The gene responsible for classic NCL2, CLN2 , has been mapped to 11p15 1 and deficiency of CLN2 gene product, tripeptidyl peptidase-1 (TPP-1; E.C. 3.4.14.9), is considered to be the cause of this disease. 2–4 However, there are at least three other genetic variations within NCL2. Biochemically, NCL2 is divided into two categories based on the presence of TPP-1 activity. Currently there are no direct therapies other than supportive therapies reported. Bone marrow transplantation (BMT) as therapy has been previously reported. 5,6 Although there was engraftment failure, they reported retarded disease progression.
影响因子：
56.9
作者：
Sleat, DE;Donnelly, RJ;Lobel, P
通讯作者：
Lobel, P