Molecular genetics study of hereditary spastic paraplegia accompanied by distal amyotrophy-an update / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 429-434, 2013.
Artículo
en Chino
| WPRIM
| ID: wpr-237233
ABSTRACT
Hereditary spastic paraplegia(HSP or SPG) is a clinically and genetically heterogeneous group of neurodegenerative diseases characterized by progressive spasticity, weakness of lower limbs, and pathologically by retrograde axonal degeneration of corticospinal tracts and posterior spinal tracts. Presence of additional features allows differentiation between simple and complex forms of the disease. Genetically, 16 loci for HSP accompanied by distal amyotrophy have been mapped, for which 13 genes have been identified. With the identification of causative genes, the molecular mechanism of this disease is gradually elucidated.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Paraplejía Espástica Hereditaria
/
Neuritis del Plexo Braquial
/
Heterogeneidad Genética
/
Genética
Límite:
Humanos
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2013
Tipo del documento:
Artículo
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