Resumen

ROBAINA CASTELLANOS, Gerardo R.  y  CLAVELO CHAVIANO, Marcos. Aspectos clínicos y genéticos en el diagnóstico de la paraparesia espástica hereditaria. Rev Cubana Pediatr [online]. 2002, vol.74, n.1, pp.56-67. ISSN 0034-7531.

Hereditary spastic paraparesis is a group of neurodegenerative disorders with phenotypical and genetic heterogeneity, clinically characterized by spasticity and progressive weakness in lower limbs, in which forms of dominant autosomal, recessive autosomal and X-linked heredity are described. From the clinical viewpoint, the so-called pure and complicated forms are described. Four loci at chromosomal level associated to dominant autosomal types have been discovered: SPG 3(chromosome 14q), SPG 4(chromosome 2p), SPG 6(chromosome 15q and more recently the fourth locus in chromosome 8q. The following loci have been reported in the recessive autosomal types: 16q24.3(SPG 7); 8q; 15q13-15 and 8q12-q13). Two loci have been proved to be responsible for X-linked type, that is, SPG 1 (Xq28) and SPG 2(Xq11.2-q23). In the last few years, the gene products from SPG 1 (neuronal cellular adhesion molecule), from SPG 2 (proteolipid protein of myeline, from SP4 (spastin) and from SPG 7 (paraplegin). At present the relative role of these gene products in the pathogenesis of these disorders is under study. Other elements of diagnostic values are included in this review article in addition to the clinical and genetic aspects.

Palabras clave : HEREDODEGENERATIVE DISORDERS, NERVOUS SYSTEM [diagnosis]; GENETIC HETEROGENEITY; DISEASE REGISTRIES; DIAGNOSTIC TECHNIQUES AND PROCEDURES.