Management of neurological symptoms in Lesch-Nyhan disease: A systematic review.
Neurosci Biobehav Rev
; 165: 105847, 2024 Oct.
Article
em En
| MEDLINE
| ID: mdl-39117131
ABSTRACT
Lesch-Nyhan Disease (LND) is an X-linked recessive genetic disorder arising from hypoxanthine phosphoribosyltransferase 1 gene mutations, leading to a complete deficiency. LND presents a complex neurological profile characterized by generalized dystonia, motor dysfunctions and self-injurious behavior, which management is challenging. We conducted a systematic review of studies assessing the efficacy of pharmacological and non-pharmacological interventions in management of neurological symptoms in LND (PROSPERO registration numberCRD42023446513). Among 34 reviewed full-text papers; 22 studies were rated as having a high risk of bias. Considerable heterogeneity was found in studies regarding the timing of treatment implementation, adjunctive treatments and outcome assessment. Single-patient studies and clinical trials often showed contradictory results, while therapeutic failures were underreported. S-Adenosylmethionine and Deep Brain Stimulation were the most studied treatment methods and require further research to address inconsistencies. The evidence from levodopa studies underlines that optimal timing of treatment implementation should be thoroughly investigated. Standardized study design and reducing publication bias are crucial to overcome current limitations of assessing intervention efficacy in LND.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Síndrome de Lesch-Nyhan
Limite:
Humans
Idioma:
En
Revista:
Neurosci Biobehav Rev
/
Neurosci. biobehav. rev
/
Neuroscience and biobehavioral reviews
Ano de publicação:
2024
Tipo de documento:
Article
País de publicação:
Estados Unidos