Oliwier Krajewski , Mikołaj Opiełka , Krzysztof Urbanowicz , Karol Chojnowski , Paweł Kochany , Kacper Pawłowski , Jagoda Tomaszewska , Godefridus J. Peters , Ryszard T. Smoleński , Maria Mazurkiewicz- Bełdzińska
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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.</p><p>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.</p><p>Standardized study design and reducing publication bias are crucial to overcome current limitations of assessing intervention efficacy in LND.</p></div>","PeriodicalId":56105,"journal":{"name":"Neuroscience and Biobehavioral Reviews","volume":null,"pages":null},"PeriodicalIF":7.5000,"publicationDate":"2024-08-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S0149763424003166/pdfft?md5=962f6bcc8de52ed47b1c79a78e634334&pid=1-s2.0-S0149763424003166-main.pdf","citationCount":"0","resultStr":"{\"title\":\"Management of neurological symptoms in Lesch-Nyhan disease: A systematic review\",\"authors\":\"Oliwier Krajewski , Mikołaj Opiełka , Krzysztof Urbanowicz , Karol Chojnowski , Paweł Kochany , Kacper Pawłowski , Jagoda Tomaszewska , Godefridus J. 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Management of neurological symptoms in Lesch-Nyhan disease: A systematic review
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.
期刊介绍：
The official journal of the International Behavioral Neuroscience Society publishes original and significant review articles that explore the intersection between neuroscience and the study of psychological processes and behavior. The journal also welcomes articles that primarily focus on psychological processes and behavior, as long as they have relevance to one or more areas of neuroscience.
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