A novel homozygous mutation in ALS2 gene in four siblings with infantile-onset ascending hereditary spastic paralysis

Hatice Koçak Eker*, Süleyman Ersin Ünlü, Fatema Al-Salmi, Andrew H. Crosby

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

12 Citations (Scopus)

Abstract

Autosomal recessive early onset forms of motor neuron disorders including infantile-onset ascending hereditary spastic paraplegia (OMIM #. 607225) are due to homozygous mutations in the ALS2 gene. Here, we report on a novel splice-site mutation of the ALS2 (c.2351+2C>A) in four children of a consanguineous union with infantile-onset ascending hereditary spastic paraplegia.

Original languageEnglish
Pages (from-to)275-278
Number of pages4
JournalEuropean Journal of Medical Genetics
Volume57
Issue number6
DOIs
Publication statusPublished - May 2014
Externally publishedYes

Keywords

  • ALS2 gene
  • IAHSP

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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