Behavioural Neurology最新文献

{"title":"Acupuncture in the Treatment of Abnormal Muscle Tone in Children with Cerebral Palsy: A Meta-Analysis.","authors":"Yan Yuanjie,&nbsp;Xue Jianyi,&nbsp;Xu Jinyan,&nbsp;Huang Mao,&nbsp;Yan Siyang,&nbsp;Yin Zhenjin","doi":"10.1155/2023/4662788","DOIUrl":"https://doi.org/10.1155/2023/4662788","url":null,"abstract":"<p><strong>Objective: </strong>To analyse the clinical efficacy of acupuncture and routine treatment in improving dystonia in children with cerebral palsy.</p><p><strong>Method: </strong>The randomized controlled trials published from the establishment of the databases to August 2022 on acupuncture in the treatment of dystonia in children with cerebral palsy were collected and comprehensively searched in China national knowledge infrastructure (CNKI), weipu (VIP), Wanfang, SinoMed, PubMed, Excerpta medica database (EMBASE), and Cochrane Library. The literature was selected according to the established standards, the quality of the included studies was evaluated, the heterogeneity of the included studies was evaluated with the <i>I</i>² test, and the appropriate model was selected for analysis. Sensitivity analysis was used to evaluate the reliability of the results, and a funnel plot was used to evaluate the publication bias.</p><p><strong>Results: </strong>Fifteen studies were included in the meta-analysis. The control group was treated with routine treatment and acupuncture combined with routine treatment. The outcome index showed that the effect in the treatment group was better: Modified Ashworth Scale score: -0.52, 95% confidence interval (CI) (-0.62 to -0.41), <i>p</i> < 0.01. The treatment group showed reduced muscle tension to a greater extent (integral eletromyographic (iEMG) score: standard mean square deviation = -2.97, 95% CI (-4.87 to -1.06), <i>p</i> < 0.01). The effective rate in the control group was 74.2% and that in the treatment group was 91.5%, odds ratio = 3.70, 95% CI (2.02-6.78), <i>p</i> < 0.01. The funnel plot showed publication bias.</p><p><strong>Conclusion: </strong>Acupuncture combined with routine training could improve muscle tension abnormalities and improve the efficiency of clinical treatment.</p>","PeriodicalId":50733,"journal":{"name":"Behavioural Neurology","volume":"2023 ","pages":"4662788"},"PeriodicalIF":2.8,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10219775/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9908016","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Vitamin B6 Deficiency Induces Autism-Like Behaviors in Rats by Regulating mTOR-Mediated Autophagy in the Hippocampus.","authors":"Lijuan Chen,&nbsp;Jing Li,&nbsp;Xinglian Liu,&nbsp;Zhiwei Zhao,&nbsp;Yan Jin,&nbsp;Yikun Fu,&nbsp;Aiqin Zhou,&nbsp;Chengqun Wang,&nbsp;Yan Zhou","doi":"10.1155/2023/6991826","DOIUrl":"https://doi.org/10.1155/2023/6991826","url":null,"abstract":"<p><p>Vitamin B6 (VB₆) exhibits therapeutic effects towards autism spectrum disorder (ASD), but its specific mechanism is poorly understood. Rat dams were treated with VB₆ standard, VB₆ deficiency, or VB₆ supplementary diet, and the same treatment was provided to their offspring, with their body weights monitored. Three-chambered social test and open field test were employed to evaluate the effect of VB₆ on autism-like behaviors. Gamma-aminobutyric acid (GABA) generation and synaptic inhibition of neurons in the hippocampus of rat were detected via immunofluorescence staining, followed by the measurement of GABA concentration through high-performance liquid chromatography (HPLC). The role of VB₆ in the autophagy and apoptosis of cells was determined via Western blot and terminal deoxynucleotidyl transferase dUTP nick-end labeling (TUNEL). In order to conduct rescue experiments, the inhibition of mammalian target of rapamycin (mTOR) or the activation of GABA was achieved by drug administration to the offspring rats with VB₆ deficiency. As a result, no evident difference in weight was observed in the offspring with varied VB₆ treatments. VB₆ deficiency impaired social interaction; aggravated self-grooming and bowel frequency; decreased GABA concentration, VIAAT, GAD67, vGAT expressions, and LC3 II/LC3 I ratio; increased p62 level and p-mTOR/mTOR ratio; and promoted cell apoptosis. Inhibition of mTOR reversed the effect of VB₆ deficiency on cell autophagy. GABA activation or mTOR inhibition offset the role of VB₆ deficiency in autism-like behaviors and hippocampal GABA expression. Collectively, VB₆ deficiency induces autism-like behaviors in rats by regulating mTOR-mediated autophagy in the hippocampus.</p>","PeriodicalId":50733,"journal":{"name":"Behavioural Neurology","volume":"2023 ","pages":"6991826"},"PeriodicalIF":2.8,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10188270/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9506996","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Construction of a Diagnostic Model and a lncRNA-Associated ceRNA Network Based on Apoptosis-Related Genes for Schizophrenia.","authors":"Zi-Long Ma,&nbsp;Run-Lan Wang,&nbsp;Lili Meng","doi":"10.1155/2023/7017106","DOIUrl":"https://doi.org/10.1155/2023/7017106","url":null,"abstract":"<p><strong>Methods: </strong>Gene expression profiles and apoptosis-related data were downloaded from the Gene Expression Omnibus and Molecular Signature databases, respectively. Apoptosis-related differentially expressed mRNAs (DEGs) and miRNAs (DEMs) from blood samples between the schizophrenia and healthy control individuals were screened. A diagnostic model was developed using the data from univariate and least absolute shrinkage and selection operator (LASSO) regression analyses, followed by validation using the GSE38485 dataset. Cases were divided into low-risk (LR) and high-risk (HR) groups based on the risk score of the model, and differences in immune gene sets and pathways between these two groups were compared. Finally, a ceRNA network was constructed by integrating long non-coding RNAs (lncRNAs), DEMs, and DEGs.</p><p><strong>Results: </strong>A diagnostic model containing 15 apoptosis-related genes was developed and its diagnostic efficiency was found to be robust. The HR group was correlated with higher immune scores of chemokines, cytokines, and interleukins; it was also significantly involved in pathways such as pancreatic beta cells and early estrogen response. A ceRNA network composed of 2 lncRNAs, 14 miRNAs, and 5 mRNAs was established.</p><p><strong>Conclusions: </strong>The established model is a potential tool to improve the diagnostic efficiency of patients with schizophrenia, and the nodes included in the ceRNA network might serve as biomarkers and therapeutic targets for schizophrenia.</p>","PeriodicalId":50733,"journal":{"name":"Behavioural Neurology","volume":"2023 ","pages":"7017106"},"PeriodicalIF":2.8,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10299887/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9739391","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Attenuation of Strychnine-Induced Epilepsy Employing <i>Amaranthus viridis</i> L. Leaves Extract in Experimental Rats.","authors":"Aashish Bharadwaj,&nbsp;Ashwani Sharma,&nbsp;Talever Singh,&nbsp;Devender Pathak,&nbsp;Tarun Virmani,&nbsp;Girish Kumar,&nbsp;Anjali Sharma,&nbsp;Abdulsalam Alhalmi","doi":"10.1155/2023/6684781","DOIUrl":"https://doi.org/10.1155/2023/6684781","url":null,"abstract":"<p><strong>Objective: </strong>Epilepsy is one of the most prevalent neurological illnesses defined by periodic seizures with or without loss of consciousness caused by aberrant neural activity. There are many allopathic medications available for the treatment of epilepsy such as phenytoin (PHY), but the side effects are a major concern. Therefore, the present study involved the evaluation of the pharmacological significance of <i>Amaranthus viridis</i> L. extract (EAV) in the management of strychnine (STR)-induced epilepsy.</p><p><strong>Method: </strong>STR (3.5 mg/kg, i.p.) was injected into male rats 30 minutes after the pre-treatment of a standard drug (PHY: 20 mg/kg) and the two doses of EAV (EAV-200 and EAV-400 mg/kg, p.o.) to the respective groups to cause the convulsions. The anti-convulsant effect of EAV-200 and EAV-400 against STR-induced convulsion in rats was investigated in terms of convulsion onset, duration of convulsions, number of convulsions, and convulsion score. Furthermore, the mitochondrial function and integrity in the brain's prefrontal cortex (PFC) were also estimated.</p><p><strong>Results: </strong>EAV-400 significantly increased the onset of convulsion from 61.67 ± 3.051 to 119.2 ± 2.738 and reduced the STR-induced duration of convulsions from 144.8 ± 3.582 to 69.17 ± 3.736, number of convulsions from 4.000 ± 0.1592 to 1.533 ± 0.1542, and convulsion score from 5.000 ± 0.3651 to 2.833 ± 0.3073 in rats. EAV-400 significantly attenuated the STR-induced decrease in the mitochondrial function and integrity of the rat PFC. In rats, EAV-400 significantly accelerated the onset of convulsions while decreasing the STR-induced duration, frequency, and score.</p><p><strong>Conclusion: </strong>Based on investigational findings, EAV-400 could be inferred to be a possible anti-epileptic option for the treatment of epilepsy of this plan in preclinical research.</p>","PeriodicalId":50733,"journal":{"name":"Behavioural Neurology","volume":"2023 ","pages":"6684781"},"PeriodicalIF":2.8,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10030215/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9175717","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Retracted: The Impact of Online Learning System on Students Affected with Stroke Disease.","authors":"Behavioural Neurology","doi":"10.1155/2023/9802476","DOIUrl":"https://doi.org/10.1155/2023/9802476","url":null,"abstract":"<p><p>[This retracts the article DOI: 10.1155/2022/4847066.].</p>","PeriodicalId":50733,"journal":{"name":"Behavioural Neurology","volume":"2023 ","pages":"9802476"},"PeriodicalIF":2.8,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10432059/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10403508","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Orthographic Ambiguity of the Arabic Graphic System: Evidence from a Case of Central Agraphia Affecting the Two Routes of Spelling.","authors":"Assia Boumaraf,&nbsp;Sonia Bekal,&nbsp;Joël Macoir","doi":"10.1155/2022/8078607","DOIUrl":"https://doi.org/10.1155/2022/8078607","url":null,"abstract":"<p><p>The Arabic writing system includes ambiguities that create difficulties in spelling. These ambiguities relate mainly to the long vowels, some phoneme-grapheme conversions, lexical particularities, and the connectivity of letters. In this article, the first to specifically explore acquired spelling impairments in an Arabic-speaking individual, we report the case of CHS, who presented with agraphia following a stroke. Initial testing indicated substantial impairment of CHS's spelling abilities in the form of mixed agraphia. The experimental study was specifically designed to explore the influence of the orthographic ambiguity of the Arabic graphemic system on CHS's spelling performance. The results revealed that CHS had substantial difficulties with orthographic ambiguity and tended to omit ambiguous graphemes. Some of the errors she produced suggested reliance on the sublexical route of spelling, while others rather reflected the adoption of the lexical-semantic route. These findings from a case involving a non-Western, non-Indo-European language contribute to discussions of theoretical models of spelling. They show that CHS's pattern of impairment is consistent with the <i>summation hypothesis</i>, according to which the lexical-semantic and the sublexical routes interactively contribute to spelling.</p>","PeriodicalId":50733,"journal":{"name":"Behavioural Neurology","volume":" ","pages":"8078607"},"PeriodicalIF":2.8,"publicationDate":"2022-11-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9683975/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40487666","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Postpandemic Stress Disorder among Health Care Personnel: A Cross-Sectional Study (Silesia, Poland).","authors":"Mateusz Grajek,&nbsp;Patryk Szlacheta,&nbsp;Karolina Sobczyk,&nbsp;Karolina Krupa-Kotara,&nbsp;Beata Łabuz-Roszak,&nbsp;Ilona Korzonek-Szlacheta","doi":"10.1155/2022/1816537","DOIUrl":"https://doi.org/10.1155/2022/1816537","url":null,"abstract":"<p><strong>Background: </strong>Postpandemic stress disorder (PPSD) is an unofficial term that refers to posttraumatic stress disorder (PTSD), a mental disorder resulting from increased stress, anxiety, and trauma associated with unpleasant life experiences. Many scientific studies indicate that symptoms of increased stress, job burnout, anxiety, and depressive disorders are associated with medical personnel performing their professional duties around COVID-19 patients.</p><p><strong>Objective: </strong>The purpose of this study was to assess the prevalence of symptoms that may indicate the presence of PPSD symptoms-depression, anxiety, and stress-in medical personnel. <i>Material and Methods</i>. The survey included 300 people, representatives of medical personnel. The group was divided into two sections. The first section numbered 150 and consisted of personnel in direct contact with COVID-19 patients (FR); the second group also consisted of 150 medical professionals, who but no longer directly involved in helping with COVID-19 cases (SR). The survey was conducted by indirect survey method using CAWI (computer-assisted web interview). The survey used a questionnaire technique. A proprietary tool enriched with standardized psychometric scales: BDI, GAD-7, FCV-19S, and PSS-10 was used. Kruskal-Wallis and Mann-Whitney <i>U</i> statistical tests were used in the statistical processing of the data. The probability level was 0.05.</p><p><strong>Results: </strong>Statistical inference made it clear that mental health problems that may indicate trauma are mainly present in the FR group. These symptoms decreased slightly in comparison between periods 2020 and 2021 (<i>p</i> < 0.05).</p><p><strong>Conclusions: </strong>The COVID-19 pandemic significantly increased the prevalence of depression, anxiety, and stress among first responders. To ensure the psychological well-being of first responders, early assessment and care of mild depression, anxiety, and stress should be promoted to prevent the development of moderate and severe forms.</p>","PeriodicalId":50733,"journal":{"name":"Behavioural Neurology","volume":" ","pages":"1816537"},"PeriodicalIF":2.8,"publicationDate":"2022-11-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9678449/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40491300","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical Features and Risk Factors of Mortality in Patients with Posterior Reversible Encephalopathy Syndrome.","authors":"Hong-Wei Cui,&nbsp;Ru-Yi Lei,&nbsp;Bo-Ai Zhang","doi":"10.1155/2022/9401661","DOIUrl":"https://doi.org/10.1155/2022/9401661","url":null,"abstract":"<p><strong>Objective: </strong>Although the prognosis of posterior reversible encephalopathy syndrome (PRES) is usually favourable and most patients wholly recover, the disorder can result in death in some patients. To date, the data on clinical features and risk factors for death are still lacking; therefore, we aim to investigate the clinical features and long-term prognostic risk factors of PRES in the present study.</p><p><strong>Methods: </strong>The patients with PRES were identified from the First Affiliated Hospital of Zhengzhou University from June 2011 to June 2020. Clinical characteristics, laboratory tests, magnetic resonance imaging examinations, and treatment of all patients were analyzed retrospectively. All patients were followed up by telephone. Finally, the patients were divided into the survival group and death group for prognosis analysis.</p><p><strong>Results: </strong>A total of 92 patients with PRES were included; 84.8% of whom were female, with an average age of 25.4 (5-66) years at the onset of PRES. Epilepsy was the main clinical manifestation (72.8%). The in-hospital mortality rate was 2.17%. The 3-year all-cause survival rate for PRES patients was 86%. In univariate analysis, patients with systemic lupus erythematosus (<i>P</i> = 0.027) and blood transfusion history within 1 month before onset (<i>P</i> = 0.027), need for dialysis (<i>P</i> ≤ 0.001), nephritis (<i>P</i> = 0.010), stroke (<i>P</i> = 0.016), and heart failure (<i>P</i> = 0.016) were associated with death. In multivariate analysis, we found that heart failure (OR = 0.095, 95% CI 0.020 to 0.441) and stroke (OR = 0.033, 95% CI 0.002 to 0.467) were independent risk factors for death in PRES patients, while pregnancy was a protective factor for death in PRES patients (OR = 7.978, 95% CI 1.446 to 44.006).</p><p><strong>Conclusions: </strong>Our results indicate that PRES could be considered as a sign of a very high-risk patient. We also demonstrated that heart failure and stroke were independent risk factors for death in patients with PRES; moreover, pregnancy was a protective factor.</p>","PeriodicalId":50733,"journal":{"name":"Behavioural Neurology","volume":" ","pages":"9401661"},"PeriodicalIF":2.8,"publicationDate":"2022-11-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9678458/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40491301","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Association between Twenty-Four-Hour Ambulatory Blood Pressure Variability and Cerebral Small Vessel Disease Burden in Acute Ischemic Stroke.","authors":"Jun Shen,&nbsp;Lu Yang,&nbsp;Ziwei Xu,&nbsp;Wenshi Wei","doi":"10.1155/2022/3769577","DOIUrl":"https://doi.org/10.1155/2022/3769577","url":null,"abstract":"<p><strong>Objective: </strong>This study is aimed at investigating the association between the twenty-four-hour ambulatory blood pressure variability monitoring (ABPM) and cerebral small vessel disease (cSVD) burden in acute ischemic stroke (AIS) patients.</p><p><strong>Methods: </strong>115 AIS patients with demographics, vascular risk factors, 24 h ABPM, and brain magnetic resonance imaging (MRI) were retrospectively enrolled. 3.0 T MRI was used to assess cSVD burden by combining four MRI markers including white matter hyperintensities (WMHs), cerebral microbleeds (CMBs), perivascular spaces (PVS), and lacunes. Correlation analysis was conducted to detect whether ABPM was associated with cSVD burden in AIS patients.</p><p><strong>Results: </strong>115 AIS patients with mean age 68.77 ± 10.26 years and 75.7% male were enrolled in this study. 112 AIS patients (97.4%) had at least one cSVD marker. Spearman correlation analysis indicated that hypertension was positively correlated with cSVD burden (<i>ρ</i> = 0.21, <i>P</i> = 0.07). High-density lipoprotein (HDL) was negatively correlated with cSVD burden (<i>ρ</i> = -0.21, <i>P</i> = 0.02). Blood pressure variability such as 24 h mean SBP (<i>ρ</i> = 0.23, <i>P</i> = 0.01), day mean SBP (<i>ρ</i> = 0.23, <i>P</i> = 0.01), and night mean SBP (<i>ρ</i> = 0.20, <i>P</i> = 0.04) was positively correlated with higher cSVD burden. Ordinal logistic regression analysis demonstrated that higher 24 h SBP SD and day mean SBP were independent risk factors for cSVD after controlling for other confounders.</p><p><strong>Conclusions: </strong>Higher BPV was significantly related to total cSVD burden in AIS patients. 24 h SBP SD and day mean SBP were independent risk factors for cSVD burden in AIS patients but not DBP or DBP variability.</p>","PeriodicalId":50733,"journal":{"name":"Behavioural Neurology","volume":" ","pages":"3769577"},"PeriodicalIF":2.8,"publicationDate":"2022-10-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9596265/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40454607","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical Features in Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency: A Systematic Review.","authors":"Susanna Rizzi, Carlotta Spagnoli, Daniele Frattini, Francesco Pisani, Carlo Fusco","doi":"10.1155/2022/2210555","DOIUrl":"10.1155/2022/2210555","url":null,"abstract":"<p><p>Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare congenital autosomal recessive metabolic disorder caused by pathogenic homozygous or compound heterozygous variants in the dopa decarboxylase (DDC) gene. Adeno-associated viral vector-mediated gene transfer of the human AADC gene into the putamina has become available. This systematic review on PubMed, Scopus databases, and other sources is aimed at describing the AADC whole phenotypic spectrum in order to facilitate its early diagnosis. Literature reviews, original articles, retrospective and comparative studies, large case series, case reports, and short communications were considered. A database was set up using Microsoft Excel to collect clinical, molecular, biochemical, and therapeutic data. By analysing 261 patients from 41 papers with molecular and/or biochemical diagnosis of AADC deficiency for which individuality could be determined with certainty, we found symptom onset to occur in the first 6 months of life in 93% of cases. Hypotonia and developmental delay are cardinal signs, reported as present in 73.9% and 72% of cases, respectively. Oculogyric crises were seen in 67% of patients while hypokinesia in 42% and ptosis in 26%. Dysautonomic features have been revealed in 53% and gastrointestinal symptoms in 19% of cases. With 37% and 30% of patients reported being affected by sleep and behavioural disorders, it seems to be commoner than previously acknowledged. Although reporting bias cannot be excluded, there is still a need for comprehensive clinical descriptions of symptoms at onset and during follow-up. In fact, our review suggests that most of the neurological and extraneurological symptoms and signs reported, although quite frequent in this condition, are not pathognomonic, and therefore, ADCC deficiency can remain an underdiscovered disorder.</p>","PeriodicalId":50733,"journal":{"name":"Behavioural Neurology","volume":" ","pages":"2210555"},"PeriodicalIF":2.7,"publicationDate":"2022-10-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9578880/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40660885","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}