Article
[X-linked hereditary spastic paraplegia due to mutation in the L1CAM gene: three cases reports of CRASH syndrome].
Revista de neurologia - 1 Mar 2016
Muñoz Abián, Cabrera-López José C, Santana-Rodríguez Alfredo, Toledo-Bravo de Laguna Laura, Santana-Artiles Alexandre, Sebastián-García Irma
Abstract excerpt
INTRODUCTION: Hereditary spastic paraplegia (HSP) is a set of neurodegenerative clinical features characterised by a progressive loss of strength in the lower limbs together with spasticity. It is the result of an axonal lesion in the corticospinal tracts. Type 1, known as SPG1, is the most common form of X-linked HSP. This is produced by a mutation in the gene for the L1 cell adhesion molecule (L1CAM). SPG1...
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