Genetic architecture of motor neuron diseases.
J Neurol Sci
; 434: 120099, 2022 Mar 15.
Article
em En
| MEDLINE
| ID: mdl-34965490
ABSTRACT
Motor neuron diseases (MNDs) are rare and frequently fatal neurological disorders in which motor neurons within the brainstem and spinal cord regions slowly die. MNDs are primarily caused by genetic mutations, and > 100 different mutant genes in humans have been discovered thus far. Given the fact that many more MND-related genes have yet to be discovered, the growing body of genetic evidence has offered new insights into the diverse cellular and molecular mechanisms involved in the aetiology and pathogenesis of MNDs. This search may aid in the selection of potential candidate genes for future investigation and, eventually, may open the door to novel interventions to slow down disease progression. In this review paper, we have summarized detailed existing research findings of different MNDs, such as amyotrophic lateral sclerosis (ALS), spinal muscular atrophy (SMA), spinal bulbar muscle atrophy (SBMA) and hereditary spastic paraplegia (HSP) in relation to their complex genetic architecture.
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Base de dados:
MEDLINE
Assunto principal:
Atrofia Muscular Espinal
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Paraplegia Espástica Hereditária
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Doença dos Neurônios Motores
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Esclerose Lateral Amiotrófica
Idioma:
En
Ano de publicação:
2022
Tipo de documento:
Article