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Infantile-onset ascending hereditary spastic paraplegia with bulbar involvement due to the novel ALS2 mutation c.2761C>T.

Gene - 15 Feb 2014

Wakil Salma M, Ramzan Khushnooda, Abuthuraya Rula, Hagos Samya, Al-Dossari Haya, Al-Omar Rana, Murad Hatem, Chedrawi Aziza, Al-Hassnan Zuhair N, Finsterer Josef, Bohlega Saeed

Abstract excerpt

Recessive mutations in the alsin gene cause three clinically distinct motor neuron diseases: juvenile amyotrophic lateral sclerosis (ALS2), juvenile primary lateral sclerosis (JPLS) and infantile-onset ascending hereditary spastic paraplegia (IAHSP). A total of 23 different ALS2 mutations have been described for the three disorders so far. Most of these mutations result in a frameshift leading to a premature...

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Source

Identifiers

PMID: 24315819
DOI: 10.1016/j.gene.2013.11.043

Genes

ALS2

Variants

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