Targeting neurological abnormalities in lysosomal storage diseases.
Trends Pharmacol Sci
; 43(6): 495-509, 2022 06.
Article
en En
| MEDLINE
| ID: mdl-34844772
ABSTRACT
Central nervous system (CNS) abnormalities and corresponding neurological and psychiatric symptoms are frequently observed in lysosomal storage disorders (LSDs). The genetic background of individual LSDs is indeed unique to each illness. However, resulting defective lysosomal function within the CNS can transition normal cellular processes (i.e., autophagy) into aberrant mechanisms, facilitating overlapping downstream consequences including neurocircuitry dysfunction, neurodegeneration as well as sensory, motor, cognitive, and psychological symptoms. Here, the neurological and biobehavioral phenotypes of major classes of LSDs are discussed alongside therapeutic strategies in development that aim to tackle neuropathology among other disease elements. Finally, focused ultrasound blood-brain barrier opening is proposed to enhance therapeutic delivery thereby overcoming the key hurdle of central distribution of disease modifying therapies in LSDs.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Enfermedades del Sistema Nervioso Central
/
Enfermedades por Almacenamiento Lisosomal
Límite:
Humans
Idioma:
En
Revista:
Trends Pharmacol Sci
Año:
2022
Tipo del documento:
Article
País de afiliación:
Países Bajos