Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2014 May-Jun;57(6):275-8.
doi: 10.1016/j.ejmg.2014.03.006. Epub 2014 Apr 3.

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

Hatice Koçak Eker  1 , Süleyman Ersin Unlü  2 , Fatema Al-Salmi  3 , Andrew H Crosby  3
Affiliations

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

Hatice Koçak Eker et al. Eur J Med Genet. 2014 May-Jun.

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.

Keywords: ALS2 gene; IAHSP.

PubMed Disclaimer

Substances

Supplementary concepts

LinkOut - more resources