Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:2.1.1.69 (BMT)
 2,655 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Two patients, one each with LINCL and JNCL, underwent BMT in an attempt to alter the course of their disease. The LINCL patient received two transplants, one when asymptomatic, which was rapidly rejected, and a second BMT at age 3 years 9 months when the EEG had become abnormal. He has deteriorated in the following 2 years and now has only a few words, limited vision and feeding difficulties. Only two major seizures have occurred, but minor seizures are frequent. Although he is less severely affected than his sister at the same age, it is difficult to know if BMT has had any effect. The most significant difference is the relative mildness of seizure activity. The JNCL patient, transplanted at 8 years, when her visual problems had already started, is still in mainstream school, has good speech and good quality of life at age 9 1/2 years. No regression has been found, but EEG changes are now present and her vision has further deteriorated. The effect of BMT, if any, will not become apparent for several years in the more slowly progressive JNCL.
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PMID:Bone marrow transplantation in late infantile Batten disease and juvenile Batten disease. 915 32