ALS2-related disorders in Spanish children
Enrique Nogueira1,2, Juana Alarcón3, Carmen Garma4,5
1Molecular Diagnostics Eurofins-Megalab, Hospital San Rafael, Madrid, Spain. enrique.nogueira@gmail.com.
Abstract:
ALS2 gene encoding for alsin protein is responsible for neurological disorders due to retrograde degeneration of the upper motor neurons of the pyramidal tracts, inherited in an autosomal recessive manner, and displaying a clinical continuum including the infantile ascending hereditary spastic paraplegiaidentified in three Spanish children presented here.
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