Article
Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia.
BMC neurology - 8 Oct 2010
Alvarez Victoria, Sánchez-Ferrero Elena, Beetz Christian, Díaz Marta, Alonso Belén, Corao Ana I, Gámez Josep, Esteban Jesús, Gonzalo Juan F, Pascual-Pascual Samuel I, López de Munain Adolfo, Moris Germán, Ribacoba Renne, Márquez Celedonio, Rosell Jordi, Marín Rosario, García-Barcina Maria J, Del Castillo Emilia, Benito Carmen, Coto Eliecer
Abstract excerpt
BACKGROUND: Hereditary Spastic Paraplegias (HSP) are characterized by progressive spasticity and weakness of the lower limbs. At least 45 loci have been identified in families with autosomal dominant (AD), autosomal recessive (AR), or X-linked hereditary patterns. Mutations in the SPAST (SPG4) and ATL1 (SPG3A) genes would account for about 50% of the ADHSP cases. METHODS: We defined the SPAST and ATL1 mutational...
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