Get 20M+ Full-Text Papers For Less Than $1.50/day. Start a 14-Day Trial for You or Your Team.

Learn More →

A-Z of Neurological PracticeA

A-Z of Neurological Practice: A [Bassen and Kornzweig first described the association of a progressive ataxic syndrome with fat malabsorption, atypical retinitis pigmentosa, and acanthocytosis with a lack of serum betalipoproteins in two siblings of consanguineous parents in the 1950s. Abetalipoproteinemia is a rare autosomal recessive condition characterized by the defective assembly and secretion of apolipoprotein-B-containing lipoproteins, which are required for secretion of plasma lipoproteins that contain apolipoprotein B. In consequence, there are very low plasma concentrations of cholesterol and triglyceride, and of fat-soluble vitamins, especially vitamin E, which produces the clinical features of peripheral neuropathy, retinitis pigmentosa, and cerebellar degeneration. The condition is caused by mutations in the gene coding for microsomal triglyceride transfer protein (MTP) on chromosome 4q22-24, a protein required for the assembly of lipoproteins which contain apolipoprotein B. A related condition, hypobetalipoproteinemia, is inherited in an autosomal dominant fashion, with a defect in the apolipoprotein-B gene in some cases, and in the homozygous state may be indistinguishable from abetalipoproteinemia.] http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png

A-Z of Neurological PracticeA

Download PDF
53 pages

Loading next page...
 
/lp/springer-journals/a-z-of-neurological-practice-a-r12ofj2wsD
Publisher
Springer London
Copyright
© Springer-Verlag London Limited 2011
ISBN
978-1-84882-993-0
Pages
1 –54
DOI
10.1007/978-1-84882-994-7_1
Publisher site
See Chapter on Publisher Site

Abstract

[Bassen and Kornzweig first described the association of a progressive ataxic syndrome with fat malabsorption, atypical retinitis pigmentosa, and acanthocytosis with a lack of serum betalipoproteins in two siblings of consanguineous parents in the 1950s. Abetalipoproteinemia is a rare autosomal recessive condition characterized by the defective assembly and secretion of apolipoprotein-B-containing lipoproteins, which are required for secretion of plasma lipoproteins that contain apolipoprotein B. In consequence, there are very low plasma concentrations of cholesterol and triglyceride, and of fat-soluble vitamins, especially vitamin E, which produces the clinical features of peripheral neuropathy, retinitis pigmentosa, and cerebellar degeneration. The condition is caused by mutations in the gene coding for microsomal triglyceride transfer protein (MTP) on chromosome 4q22-24, a protein required for the assembly of lipoproteins which contain apolipoprotein B. A related condition, hypobetalipoproteinemia, is inherited in an autosomal dominant fashion, with a defect in the apolipoprotein-B gene in some cases, and in the homozygous state may be indistinguishable from abetalipoproteinemia.]

Published: Sep 22, 2010

Keywords: Multiple System Atrophy; Epileptic Seizure; Arachnoid Cyst; Hereditary Hemorrhagic Telangiectasia; Acute Mountain Sickness

There are no references for this article.