کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
2966604 | 1178810 | 2013 | 6 صفحه PDF | دانلود رایگان |
![عکس صفحه اول مقاله: A novel mutation in the ABCA1 gene causing an atypical phenotype of Tangier disease A novel mutation in the ABCA1 gene causing an atypical phenotype of Tangier disease](/preview/png/2966604.png)
Tangier disease is a rare autosomal-recessive disorder caused by mutation in the ATP binding cassette transporter 1 (ABCA1) gene. Typically, Tangier disease manifests with symptoms and signs resulting from the deposition of cholesteryl esters in nonadipose tissues; chiefly, in peripheral nerves leading to neuropathy and in reticulo-endothelial organs, such as liver, spleen, lymph nodes, and tonsils, causing their enlargement and discoloration. An association with early cardiovascular disease can be variable. We describe a patient with a unique phenotype of Tangier disease from a novel splice site mutation in the ABCA1 gene that is associated with a central nervous system presentation resembling multiple sclerosis, and the presence of premature atherosclerosis.
Journal: Journal of Clinical Lipidology - Volume 7, Issue 1, January–February 2013, Pages 82–87