Literature DB >> 18986243

Inherited metabolic disorders and cerebral infarction.

Kavita Kalidas1, Réza Behrouz.   

Abstract

The association of genetic factors and cerebral infarction (CI) has long been established. A positive family history alone is a recognized risk factor for CI and vascular events in general. However, there are certain inherited conditions that further increase the risk of stroke. These conditions are generally metabolic and mitochondrial genetic defects that have variable modes of inheritance. This article reviews major inherited metabolic disorders that predispose an individual to CI. Ten main conditions will be discussed: Fabry's disease, cerebrotendinous xanthomatosis, tangier disease, familial hypercholesterolemia, homocystinuria, methylmalonic acidemia, glutaric aciduria type I, propionic acidemia, ornithine transcarbamylase deficiency and mitochondrial encephalopathy, lactic acidosis and stroke-like phenomenon.

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Year:  2008        PMID: 18986243     DOI: 10.1586/14737175.8.11.1731

Source DB:  PubMed          Journal:  Expert Rev Neurother        ISSN: 1473-7175            Impact factor:   4.618


  5 in total

1.  Screening of cerebral infarction-related genetic markers using a Cox regression analysis between onset age and heterozygosity at randomly selected short tandem repeat loci.

Authors:  Liu Hui; Tian Jun; Ye Jing; Weijian Yu
Journal:  J Thromb Thrombolysis       Date:  2012-05       Impact factor: 2.300

Review 2.  Methylmalonic and propionic acidemias: clinical management update.

Authors:  Jamie L Fraser; Charles P Venditti
Journal:  Curr Opin Pediatr       Date:  2016-12       Impact factor: 2.856

3.  Peripheral nerve involvement in classic homocystinuria: an unusual association.

Authors:  Miguel Oliveira Santos; Ruth Geraldes; Isabel Conceição
Journal:  BMJ Case Rep       Date:  2016-09-28

Review 4.  Cerebrotendinous xanthomatosis: a comprehensive review of pathogenesis, clinical manifestations, diagnosis, and management.

Authors:  Shuke Nie; Guiqin Chen; Xuebing Cao; Yunjian Zhang
Journal:  Orphanet J Rare Dis       Date:  2014-11-26       Impact factor: 4.123

5.  Chinese patient with cerebrotendinous xanthomatosis confirmed by genetic testing: A case report and literature review.

Authors:  Lan-Xiao Cao; Mi Yang; Ying Liu; Wen-Ying Long; Guo-Hua Zhao
Journal:  World J Clin Cases       Date:  2020-11-06       Impact factor: 1.337

  5 in total

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