Genetics in hereditary spastic paraplegias: Essential but not enough.
Curr Opin Neurobiol
; 72: 8-14, 2022 02.
Article
en En
| MEDLINE
| ID: mdl-34403957
ABSTRACT
Hereditary spastic paraplegias consist of a group of rare neurodegenerative diseases characterized by lower limb spasticity. These inherited Mendelian disorders show high genetic variability associated with wide clinical diversity. Pathophysiological investigations have suggested that mutations in genes affecting the same cellular pathway generally lead to similar clinical symptoms, highlighting the importance of genetic mutation in these diseases. However, phenotype-genotype correlations have failed to explain the observed large inter-individual variability linked to mutations in a single gene, suggesting that genetics alone is not sufficient to explain symptom diversity. The identification of biomarkers, such as neurofilament light chain, could fill the gap and predict disease evolution.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Paraplejía Espástica Hereditaria
Límite:
Humans
Idioma:
En
Revista:
Curr Opin Neurobiol
Asunto de la revista:
BIOLOGIA
/
NEUROLOGIA
Año:
2022
Tipo del documento:
Article