Tangier disease with syringomyelia-like phenotype in a family from Afghanistan caused by a novel mutation in the ABCA1 gene

Tangier disease (TD) is a rare autosomal co-dominant disorder caused by mutations in the recently identified ATP-binding cassette transporter A1 gene (ABCA1) located on chromosome 9q31. ABCA1 is a member of a large superfamily of cassette transporter proteins coupling the hydrolysis of ATP to the translocation of various intracellular substrates and plays a major role in reverse cholesterol transport. TD is characterised by very low or undetectable levels of high-density lipoprotein cholesterol (HDL-C) and apolipoprotein A-I (apoA-I). Patients present with moderate to severe forms of peripheral neuropathy and pr…