{"title":"Epidemiology and etiology of community-acquired CNS infections in Iran: a narrative review","authors":"F. Sheybani, Mahboubeh Haddad, Matin Shirazinia","doi":"10.2217/fnl-2023-0017","DOIUrl":"https://doi.org/10.2217/fnl-2023-0017","url":null,"abstract":"CNS infections are associated with significant morbidity and mortality. The epidemiology of CNS infections shows striking differences in geographic regions. We reviewed the literature on clinico-epidemiological features of community-acquired CNS infections in Iran. Our review highlighted that the causes of CNS infections in Iran are diverse but information regarding the epidemiology and precise estimates of the burden of disease are lacking for most neuroinfections. Enteroviruses, S. pneumoniae, and Klebsiella species are the most commonly reported causes of viral, bacterial, and neonatal meningitis, respectively, whereas neurotuberculosis and neurobrucellosis place a huge burden. Improving the national surveillance system and implementing a nationwide data registry system for CNS infections are necessary to provide practically useful information regarding the microbial spectrum and the burden of CNS infections to suggest optimal preventive, diagnostic, and therapeutic strategies.","PeriodicalId":12606,"journal":{"name":"Future Neurology","volume":"32 6","pages":""},"PeriodicalIF":1.3,"publicationDate":"2024-01-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139452071","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
C. Chepke, Rakesh Jain, Russell Rosenberg, M. Moline, J. Yardley, K. Pinner, Dinesh Kumar, Carlos Perdomo, G. Filippov, N. Atkins, Manoj Malhotra
{"title":"The effects of lemborexant on insomnia-related fatigue: a plain language summary","authors":"C. Chepke, Rakesh Jain, Russell Rosenberg, M. Moline, J. Yardley, K. Pinner, Dinesh Kumar, Carlos Perdomo, G. Filippov, N. Atkins, Manoj Malhotra","doi":"10.2217/fnl-2023-0018","DOIUrl":"https://doi.org/10.2217/fnl-2023-0018","url":null,"abstract":"This is a summary of an article originally published in the journal Postgraduate Medicine. Lemborexant is a type of medication called a dual orexin receptor antagonist (often abbreviated to DORA) that is approved for treating people with insomnia, a sleep disorder in which people have trouble falling asleep, staying asleep or both. Two studies, one called SUNRISE-1 (Study 304), which lasted one month, and SUNRISE-2 (Study 303), which lasted 12 months, looked at the effects of lemborexant on sleep compared to placebo in people with insomnia. People with insomnia often experience fatigue (or tiredness) during the daytime, which affects their daily lives and health, and often have other conditions which can also cause fatigue. This summary reports an analysis that looked at whether lemborexant improves fatigue during the daytime as well as nighttime symptoms of insomnia in all participants and in participants with clinically significant fatigue before treatment. In both studies, participants completed a questionnaire, called the Fatigue Severity Scale, that measured how significant their fatigue was. The researchers looked at the change in fatigue over time in participants treated with lemborexant compared with those given placebo. They also looked at the change in a group of participants who reported clinically important levels of fatigue at the beginning of the study. People in these studies also completed diaries about how long it took them to fall asleep and how long they slept. The researchers compared improvements in fatigue with changes in how participants slept over time. Overall, lemborexant reduced daytime fatigue compared with placebo in all study participants. It also reduced daytime fatigue in the smaller group of participants who had clinically significant fatigue at the beginning of the study. The reductions in fatigue seen with lemborexant remained during 1 year of treatment. There was also a relationship between reduced fatigue, falling asleep faster and not waking up as much. Researchers concluded that in addition to improving sleep in people with insomnia, lemborexant can reduce daytime fatigue.","PeriodicalId":12606,"journal":{"name":"Future Neurology","volume":"70 4","pages":""},"PeriodicalIF":1.3,"publicationDate":"2023-11-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139270733","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Why should ‘psychogenic’ be parenthetical in functional (psychogenic) neurological disorder?","authors":"Laurent Vercueil, Christo Bratanov","doi":"10.2217/fnl-2022-0018","DOIUrl":"https://doi.org/10.2217/fnl-2022-0018","url":null,"abstract":"Future NeurologyAhead of Print CommentaryOpen AccessWhy should ‘psychogenic’ be parenthetical in functional (psychogenic) neurological disorder?Laurent Vercueil & Christo BratanovLaurent Vercueil *Author for correspondence: Tel.: +33670316120; E-mail Address: lvercueil@chu-grenoble.frhttps://orcid.org/0000-0003-3323-0091Laboratory of Psychology and Neurocognition, Université Grenoble Alpes, 38000 Grenoble, FranceNeurology Department, CHU Grenoble Alpes, Grenoble, FranceSearch for more papers by this author & Christo BratanovNeurology Department, CHU Grenoble Alpes, Grenoble, FranceSearch for more papers by this authorPublished Online:2 Nov 2023https://doi.org/10.2217/fnl-2022-0018AboutSectionsPDF/EPUB ToolsAdd to favoritesDownload CitationsTrack CitationsPermissionsReprints ShareShare onFacebookTwitterLinkedInRedditEmail Keywords: functional neurological disorderpsychogenicFunctional neurologic disorder (FND) refers to a group of common neurological symptoms arising from the voluntary and conscious motor or somatosensory nervous system but experienced as involuntary. In FND, there is no significant structural damage in the brain, or the damage is unrelated to the symptoms. The exact cause of FND is unknown. A substantial amount of debate has risen in the recent literature about adequate naming of the formerly so-called ‘hysteria' [1,2]. Actually, terms, such as ‘conversion’, ‘somatoform’, ‘medically unexplained’, ‘psychogenic’, ‘dissociation’, ‘somatoform’ and ‘functional disorders’ have been concurrently and successively used over the past decades [3]. More recently, a consensus has emerged to promote the use of 'functional neurological disorder' in medical publications, leading to the foundation of the FND Society in 2018 [4]. However, since the beginning of the 2010s, the use of 'functional (psychogenic) neurological disorder' (‘psychogenic’ being put into brackets after ‘functional’) appeared consistently in titles, keywords or abstracts of articles, with a growing frequency, although no consensus or recommendation for using this labelling have been found by the authors. By conducting a bibliographic research in medical and scientific online database (MEDLINE PubMed – end 2022), we found a total of 145 occurrences of ‘functional [psychogenic]’ (F[P]) associated terms since 1960, either in the title of the reference, within the abstract or as keyword (details in the Supplementary Material). First occurrence of the association ‘functional psychogenic’ were retrieved in the English translation from Russian [5] and Romanian [6] articles titles in 1978, respectively, on ‘functional psychogenic disorders of the cardiovascular system’ and ‘functional psychogenic dysphonia’. However, these titles did not use brackets for the term ‘psychogenic’. Seven occurrences from the 145 were not real parenthetical brackets (as in ‘functional (psychogenic)’) but forward slashes (‘functional/psychogenic’), thus suggesting a kind of equivalence between ‘functional’","PeriodicalId":12606,"journal":{"name":"Future Neurology","volume":"48 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135737245","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Christopher Drudge, I. Samjoo, R. Brennan, L. Badgujar, V. Khurana, Santosh Tiwari, N. Adlard, J. Bánházi
{"title":"An overview of reviews with network meta-analyses comparing disease-modifying therapies for relapsing multiple sclerosis","authors":"Christopher Drudge, I. Samjoo, R. Brennan, L. Badgujar, V. Khurana, Santosh Tiwari, N. Adlard, J. Bánházi","doi":"10.2217/fnl-2023-0009","DOIUrl":"https://doi.org/10.2217/fnl-2023-0009","url":null,"abstract":"Aim: An overview of published systematic reviews (SRs) with integrated network meta-analyses (NMAs) comparing disease-modifying therapies (DMTs) for relapsing multiple sclerosis (RMS) was conducted to help inform healthcare decision-making. Methods: We searched Embase, MEDLINE® and Cochrane Database of Systematic Reviews from inception to May 2023. Full-text studies evaluating annualized relapse rate (ARR) and/or confirmed disability progression (CDP) were qualitatively compared. Methodological quality was assessed using SR and NMA questionnaires. Results: Twenty-one SRs with integrated NMAs were included. Studies varied in their conduct and reporting of the SR, the included primary evidence, treatments, and cross-trial heterogeneity assessment and their conduct and reporting of NMAs. The quality of the studies was variable. Monoclonal antibody therapies were determined to be the most efficacious DMTs for reducing ARR and delaying CDP. Conclusion: Future analyses should carefully consider and clearly report methods and results to permit accurate interpretation of NMA findings and better inform decision-making.","PeriodicalId":12606,"journal":{"name":"Future Neurology","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2023-08-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48022891","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Proton Beam Therapy for Intrahepatic Cholangiocarcinoma: A Multicenter Prospective Registry Study in Japan.","authors":"Masashi Mizumoto, Kazuki Terashima, Hirokazu Makishima, Motohisa Suzuki, Takashi Ogino, Takahiro Waki, Hiromitsu Iwata, Hiroyasu Tamamura, Yusuke Uchinami, Tetsuo Akimoto, Tomoaki Okimoto, Takashi Iizumi, Masao Murakami, Norio Katoh, Kazushi Maruo, Kei Shibuya, Hideyuki Sakurai","doi":"10.1159/000531376","DOIUrl":"10.1159/000531376","url":null,"abstract":"<p><strong>Introduction: </strong>Intrahepatic cholangiocarcinoma (ICC) can be treated with chemotherapy in unresectable cases, but outcomes are poor. Proton beam therapy (PBT) may provide an alternative treatment and has good dose concentration that may improve local control.</p><p><strong>Methods: </strong>Fifty-nine patients who received initial PBT for ICC from May 2016 to June 2018 at nine centers were included in the study. The treatment protocol was based on the policy of the Japanese Society for Radiation Oncology. Forty patients received 72.6-76 Gy (RBE) in 20-22 fr, 13 received 74.0-76.0 Gy (RBE) in 37-38 fr, and 6 received 60-70.2 Gy (RBE) in 20-30 fr. Overall survival (OS) and progression-free survival (PFS) were estimated by Kaplan-Meier analysis.</p><p><strong>Results: </strong>The 59 patients (35 men, 24 women; median age: 71 years; range: 41-91 years) had PS of 0 (<i>n</i> = 47), 1 (<i>n</i> = 10), and 2 (<i>n</i> = 2). Nine patients had hepatitis and all 59 cases were considered inoperable. The Child-Pugh class was A (<i>n</i> = 46), B (<i>n</i> = 7), and unknown (<i>n</i> = 6); the median maximum tumor diameter was 5.0 cm (range 2.0-15.2 cm); and the clinical stage was I (<i>n</i> = 12), II (<i>n</i> = 19), III (<i>n</i> = 10), and IV (<i>n</i> = 18). At the last follow-up, 17 patients were alive (median follow-up: 36.7 months; range: 24.1-49.9 months) and 42 had died. The median OS was 21.7 months (95% CI: 14.8-34.4 months). At the last follow-up, 37 cases had recurrence, including 10 with local recurrence. The median PFS was 7.5 months (95% CI: 6.1-11.3 months). In multivariable analyses, Child-Pugh class was significantly associated with OS and PFS, and Child-Pugh class and hepatitis were significantly associated with local recurrence. Four patients (6.8%) had late adverse events of grade 3 or higher.</p><p><strong>Conclusion: </strong>PBT gives favorable treatment outcomes for unresectable ICC without distant metastasis and may be particularly effective in cases with large tumors.</p>","PeriodicalId":12606,"journal":{"name":"Future Neurology","volume":"8 1","pages":"161-168"},"PeriodicalIF":13.8,"publicationDate":"2023-07-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11095592/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"90168824","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
K. Knisely, Camron Edrissi, Chase Rathfoot, C. Sanders, Samuel I Nathaniel, T. Nathaniel
{"title":"Stroke severity among ischemic stroke patients with elevated diastolic blood pressure","authors":"K. Knisely, Camron Edrissi, Chase Rathfoot, C. Sanders, Samuel I Nathaniel, T. Nathaniel","doi":"10.2217/fnl-2022-0016","DOIUrl":"https://doi.org/10.2217/fnl-2022-0016","url":null,"abstract":"Aim: Understanding risk factors with elevated diastolic blood pressure (DBP) in acute ischemic stroke (AIS) is significant. Methods: Multivariable logistic regression was used to determine predictors of stroke severity in AIS patients, categorized by their DBP levels >80 mmHg and ≤80 mmHg. Results: AIS patients with DBP >80 mmHg that presents with a history of alcohol use (OR = 2.11, 95% CI: 1.116–3.988, p = 0.022), hypertension (OR = 1.572, 95% CI: 1.01–2.449, p = 0.035), and increasing heart rate (OR = 1.012, 95% CI: 1.012–1.022, p = 0.024) were associated with higher stroke severity Conclusion: Identified factors are independent predictors of higher stroke severity in AIS patients with elevated DBP.","PeriodicalId":12606,"journal":{"name":"Future Neurology","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2023-06-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43815620","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
E. Mignot, D. Mayleben, I. Fietze, D. Léger, G. Zammit, Claudio L A Bassetti, D. S. Kinter, T. Roth
{"title":"Key results from two phase 3 trials on the efficacy and safety of daridorexant in patients with chronic insomnia","authors":"E. Mignot, D. Mayleben, I. Fietze, D. Léger, G. Zammit, Claudio L A Bassetti, D. S. Kinter, T. Roth","doi":"10.2217/fnl-2022-0014","DOIUrl":"https://doi.org/10.2217/fnl-2022-0014","url":null,"abstract":"This plain language summary describes the main results from two similar research studies, “Study 1” and “Study 2”, which evaluated the use of a medication called daridorexant in patients with chronic insomnia disorder. These two studies were phase 3 clinical trials, which compared different doses of daridorexant to an inactive pill called a placebo, which looked and tasted similar to the daridorexant pill but did not contain daridorexant or any other active ingredient. Adults with chronic insomnia disorder typically find it hard to fall or stay asleep and may wake up too early, leading to sleep dissatisfaction. They also have impaired daytime functioning, which is when a person can feel tired or drowsy, have difficulty concentrating, or experience low mood as a consequence of lack of sleep. Adults with chronic insomnia disorder are also at increased risk for injuries and accidents as a result of that impaired daytime functioning. Researchers found that daridorexant 50 mg and 25 mg improved on average participants' ability to get to sleep and stay asleep, as well as increasing their overall total sleep time. Daridorexant 50 mg also improved daytime functioning without any negative effects the next morning, such as feeling tired or drowsy, on average in the participants included in the studies. While available medications are effective in treating night-time symptoms of insomnia, they have not been shown to improve daytime symptoms in insomnia, and in many cases have been shown to have residual effects the next day due to their nature as sedatives. Therefore there has been a need for new treatments for chronic insomnia disorder that will improve both night-time and daytime symptoms with minimal next morning effects. These findings show the effectiveness of daridorexant 50 mg in improving both night-time and daytime functioning, and that daridorexant is well-tolerated at all doses. The results from these two studies resulted in the approval of the 25 mg and 50 mg doses of daridorexant by the US Food and Drug Administration (FDA) and the European Medicines Agency (EMA). Clinical Trial Registration: NCT03545191 (study 1) and NCT03575104 (study 2) ( ClinicalTrials.gov )","PeriodicalId":12606,"journal":{"name":"Future Neurology","volume":"1 1","pages":""},"PeriodicalIF":1.3,"publicationDate":"2023-05-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41700372","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
N. Ratcliffe, S. Cleanthous, John Andrejack, R. Barker, G. Blavat, William Brooks, S. Cano, Casey Gallagher, L. Gosden, Carroll Siu, A. Slagle, Kate Trenam, T. Morel, Karlin Schroeder
{"title":"Plain language summary: what symptoms should be measured in clinical studies for early-stage Parkinson's?","authors":"N. Ratcliffe, S. Cleanthous, John Andrejack, R. Barker, G. Blavat, William Brooks, S. Cano, Casey Gallagher, L. Gosden, Carroll Siu, A. Slagle, Kate Trenam, T. Morel, Karlin Schroeder","doi":"10.2217/fnl-2022-0017","DOIUrl":"https://doi.org/10.2217/fnl-2022-0017","url":null,"abstract":"Clinical studies test whether a new treatment is safe and if the treatment works in people who have a particular condition. Most current questionnaires used in clinical studies investigating Parkinson's measure symptoms in people who have been diagnosed for many years. This means that these existing questionnaires may not be useful for people living with early-stage Parkinson's, where the symptoms experienced can be quite different to later stages, or may not show if a new treatment is helpful for them. The most common symptoms in Parkinson's are involuntary shaking of parts of the body (“tremor”), slow movement (“bradykinesia”) and stiff, inflexible muscles (“rigidity”), which worsen with time. Symptoms specific to early-stage Parkinson's are not fully understood and research is ongoing in this area. New measures are therefore needed to assess the symptoms affecting people living with early-stage Parkinson's, especially the symptoms that they find most troublesome. This study investigated which symptoms are of most importance to people in the earlier stages of their condition and which would be appropriate to measure in future clinical studies. The research team that led the study was made up of people living with Parkinson's, as well as technical experts and representatives from Parkinson's patient organizations (Parkinson's UK and the Parkinson's Foundation). The participants in the study were people living with early-stage Parkinson's and their care partners. Slowness of movement (called “bradykinesia”) was noted as a key symptom. “Functional slowness” was especially noted. This symptom caused people to feel slower during many daily tasks, such as brushing teeth, walking and cooking. The loss of ability to move easily and freely, termed “mobility”, was also a key symptom. It was noticeable in walking abnormalities and difficulties performing “fine motor skills”. These are tasks that require precision, dexterity and coordination. Other impactful symptoms were: tremor, rigidity/stiffness, feelings of exhaustion (fatigue), depression, sleeping problems and pain. The personal views gathered in this study show the wide-ranging effects of early-stage Parkinson's. The study also identifies functional slowness and loss of mobility as key symptoms that would be appropriate to measure in future early-stage Parkinson's clinical studies to test if treatments are working or not.","PeriodicalId":12606,"journal":{"name":"Future Neurology","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2023-01-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44410516","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Shaanvar Shamuradovich Shamansurov, S. Saidazizova, N. Tulyaganova, P. Usmanova, S. O. Nazarova
{"title":"Dynamics of clinical and neurological parameters and role of citicoline during therapeutic interventions in children with stroke","authors":"Shaanvar Shamuradovich Shamansurov, S. Saidazizova, N. Tulyaganova, P. Usmanova, S. O. Nazarova","doi":"10.2217/fnl-2022-0009","DOIUrl":"https://doi.org/10.2217/fnl-2022-0009","url":null,"abstract":"Aim: The rehabilitation of children who experience stroke is hampered by the lack of proven treatments and the choice of drugs and dosages. We compared clinical and neurological parameters in children receiving citicoline. Materials & methods: We assessed 199 children (128 boys, 64.3%) with stroke using the Pediatric Stroke Outcome Measure–Short Neurological Exam. Results: Hemorrhagic infarction was diagnosed more often than ischemic stroke, most often owing to the child’s early age (before and after 3 months). The presence of disorders of consciousness in the most acute and acute periods is noteworthy. Conclusion: The Pediatric Stroke Outcome Measure–Short Neurological Exam scale can be used to predict adverse outcomes. Citicoline can be administered early and is especially effective during the first year of life.","PeriodicalId":12606,"journal":{"name":"Future Neurology","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45427862","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Mats Bergkvist, C. Stephens, T. Schilling, Antonia Wang, Xiao-li Yu, Elizabeth Goodwin, L. Golden, A. Kristensen, Matthew Klein
{"title":"Aromatic L-amino acid decarboxylase deficiency: a systematic review","authors":"Mats Bergkvist, C. Stephens, T. Schilling, Antonia Wang, Xiao-li Yu, Elizabeth Goodwin, L. Golden, A. Kristensen, Matthew Klein","doi":"10.2217/fnl-2022-0012","DOIUrl":"https://doi.org/10.2217/fnl-2022-0012","url":null,"abstract":"Aim: To gain greater knowledge regarding the natural history of aromatic L-amino acid decarboxylase (AADC) deficiency, a genetic disorder that causes severe deficits in motor and cognitive development. Materials & methods: A systematic literature review was performed of all case reports and clinical studies published through December 2019 of patients with AADC deficiency. The data were summarized descriptively. Results: The search identified 94 publications that described 237 unique patients. Mean (standard deviation) age at diagnosis was 3.2 (±5.7) years and 16 deaths were reported. Most patients (57%) received the standard of care therapies, which showed limited efficacy in this patient population. Conclusion: AADC deficiency is a devastating disease and prospectively defined natural history studies are warranted to further understand this disease.","PeriodicalId":12606,"journal":{"name":"Future Neurology","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2022-09-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45042217","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}