Genetics of primary lateral sclerosis.
Amyotroph Lateral Scler Frontotemporal Degener
; 21(sup1): 28-34, 2020 11.
Article
en En
| MEDLINE
| ID: mdl-33602012
ABSTRACT
With the exception of rare, juvenile-onset, autosomal recessive cases, primary lateral sclerosis (PLS) has long been considered an exclusively sporadic motor neuron disease. However, the identification of PLS cases within pedigrees with familial amyotrophic lateral sclerosis (ALS), together with the clinical and neuropathological overlap with other neurodegenerative disease with strong genetic component such as ALS and hereditary spastic paraparesis (HSP), suggest the existence of a genetic component in PLS as well. Here we will review the genetics of juvenile PLS-like syndromes and the contribution of mutations in ALS and HSP-associated genes to PLS pathogenesis.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Paraplejía Espástica Hereditaria
/
Enfermedad de la Neurona Motora
/
Enfermedades Neurodegenerativas
/
Esclerosis Amiotrófica Lateral
Límite:
Humans
Idioma:
En
Revista:
Amyotroph Lateral Scler Frontotemporal Degener
Año:
2020
Tipo del documento:
Article
País de afiliación:
Italia