Fragile X syndrome and associated disorders: Clinical aspects and pathology.
Neurobiol Dis
; 136: 104740, 2020 03.
Article
en En
| MEDLINE
| ID: mdl-31927143
ABSTRACT
This review aims to assemble many years of research and clinical experience in the fields of neurodevelopment and neuroscience to present an up-to-date understanding of the clinical presentation, molecular and brain pathology associated with Fragile X syndrome, a neurodevelopmental condition that develops with the full mutation of the FMR1 gene, located in the q27.3 loci of the X chromosome, and Fragile X-associated tremor/ataxia syndrome a neurodegenerative disease experienced by aging premutation carriers of the FMR1 gene. It is important to understand that these two syndromes have a very distinct clinical and pathological presentation while sharing the same origin the mutation of the FMR1 gene; revealing the complexity of expansion genetics.
Palabras clave
Texto completo:
1
Bases de datos:
MEDLINE
Asunto principal:
Proteína de la Discapacidad Intelectual del Síndrome del Cromosoma X Frágil
/
Síndrome del Cromosoma X Frágil
Tipo de estudio:
Risk_factors_studies
Límite:
Animals
/
Humans
Idioma:
En
Revista:
Neurobiol Dis
Asunto de la revista:
NEUROLOGIA
Año:
2020
Tipo del documento:
Article