AI Article Synopsis

  • - Lesch-Nyhan Disease (LND) is a rare genetic disorder caused by mutations in a specific gene, resulting in neurological issues like abnormal movement and self-harm, which are hard to treat.
  • - A systematic review of 34 studies found that many had high bias, and there were significant differences in how treatments were applied and evaluated, leading to inconsistent results.
  • - The most researched treatments, such as S-Adenosylmethionine and Deep Brain Stimulation, need more investigation, and there is a pressing need for better study designs to improve the assessment of treatment effectiveness in LND.

Article 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 number:CRD42023446513). 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.

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Source
http://dx.doi.org/10.1016/j.neubiorev.2024.105847DOI Listing

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