Neurogenetics最新文献

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Strabismus and nystagmus in oculocutaneous albinism: clinical perspectives, diagnosis, and role of neurotransmitters. 眼皮肤白化病的斜视和眼球震颤:临床观点、诊断和神经递质的作用。
IF 1.6 4区 医学
Neurogenetics Pub Date : 2025-06-18 DOI: 10.1007/s10048-025-00830-x
Vaishali Dobhal, Ashwani Kumar, Ishu Garg, Aman Kumar, Falguni Goel
{"title":"Strabismus and nystagmus in oculocutaneous albinism: clinical perspectives, diagnosis, and role of neurotransmitters.","authors":"Vaishali Dobhal, Ashwani Kumar, Ishu Garg, Aman Kumar, Falguni Goel","doi":"10.1007/s10048-025-00830-x","DOIUrl":"https://doi.org/10.1007/s10048-025-00830-x","url":null,"abstract":"<p><p>The rare recessive autosomal non-communicable disorder oculocutaneous albinism causes discoloration of the eye, hair, and skin. Oculocutaneous albinism is a hereditary group of disorders with sub-differential characteristics like reduction of pilar, cutaneous, and ocular pigmentation. Clinical characteristics and symptoms include strabismus, iris hypopigmentation, nystagmus, reduced visual acuity, foveal hypoplasia, refractive errors, photophobia, and colour-visual impairment. The associated genetic mutation results in the reduced activity of tyrosine activity required for the metabolism of melanin further. Genes that are majorly involved in different types of oculocutaneous albinism (OCA) are the TYR, MATP, SLC24A5, TYRP1, and SLCA5A2. Also, gene sequences LYST and HPS1 account for Chediak-Higashi syndrome and Hermansky-Pudlak syndrome, respectively, which have clinical symptoms of OCA. The exact gene mutation can be understood by various methods of a diagnostic approach, like denaturing high-performance liquid chromatography and sequential analysis that involves computational techniques. The most prevalent form of albinism, OCA1, is associated with a mutational defect in the TYR gene. Further, neuromodulators like GABA, acetylcholine, and dopamine are responsible for retinal abnormality and dysregulation, exacerbating the oculocutaneous albinism. Understanding all these genetic mutations and neurotransmitter deficiencies will help in generating the targeted gene and other drug delivery systems.</p>","PeriodicalId":56106,"journal":{"name":"Neurogenetics","volume":"26 1","pages":"50"},"PeriodicalIF":1.6,"publicationDate":"2025-06-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144327873","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Phenotypic variability and preserved cognition in a family with KCNA2-related developmental epileptic encephalopathy. kcna2相关的发育性癫痫性脑病家族的表型变异和保留的认知能力
IF 1.6 4区 医学
Neurogenetics Pub Date : 2025-06-14 DOI: 10.1007/s10048-025-00829-4
Arastoo Kaki, Maedeh Ganji, Mohammad Farid Mohammadi, Fatemeh Bahreini, Mojtaba Movahedinia, Reena G Rastogi, Pouria Mohammadi, Ali Reza Tavasoli
{"title":"Phenotypic variability and preserved cognition in a family with KCNA2-related developmental epileptic encephalopathy.","authors":"Arastoo Kaki, Maedeh Ganji, Mohammad Farid Mohammadi, Fatemeh Bahreini, Mojtaba Movahedinia, Reena G Rastogi, Pouria Mohammadi, Ali Reza Tavasoli","doi":"10.1007/s10048-025-00829-4","DOIUrl":"10.1007/s10048-025-00829-4","url":null,"abstract":"<p><p>Developmental and epileptic encephalopathy type 32 (DEE32) is a severe neurological disorder caused by pathogenic variants in the KCNA2 gene, encoding the Kv1.2 voltage-gated potassium channel. DEE32 typically presents with early-onset seizures, ataxia, and intellectual impairment, though severity varies widely. We describe a family with a rare KCNA2 loss-of-function variant in two siblings, evaluating their clinical phenotype, neuroimaging, electroencephalography (EEG), developmental assessments, and treatment response. Cognitive function in patients 1 and 2 was assessed using the Wechsler Preschool and Primary Scale of Intelligence (WPPSI), while cognitive function in patient 3 was inferred from his ability to maintain employment and function independently. The family included a father and two children, all with early-onset seizures in infancy and normal development. Patient 1, a male, exhibited delayed myelination at 15 months, with seizures initially controlled but later recurring after medication weaning. His WPPSI assessment indicated normal cognition with a standard score of 113, and his mild speech delay resolved. Patient 2, a female, had a normal brain MRI and normal WPPSI evaluation (standard score of 111), with well-controlled seizures on zonisamide. The father had childhood-onset epilepsy persisting into adulthood, ultimately leading to Sudden Unexpected Death in Epilepsy (SUDEP) at age 30. Genetic testing confirmed that both children carried the c.765_773del (p.Met255_Ile257del) KCNA2 variant, linking their seizures to the father's epilepsy. Patients 1 and 2 responded well to zonisamide, while patient 3's response remains unknown due to a lack of medical records. This study highlights the variability of KCNA2-related epilepsy, ranging from early-onset seizures to long-term epilepsy with developmental delays and episodic ataxia. Despite carrying a loss-of-function variant, both children demonstrated a favorable response to zonisamide without additional neurological manifestations. Our findings underscore the need for further research into genetic modifiers of KCNA2 phenotypes. The interpretation of any association between SUDEP and KCNA2-related epilepsy and the determination of cause of death is hampered by limited data, as it is based on a single case with normal cardiac evaluation.</p>","PeriodicalId":56106,"journal":{"name":"Neurogenetics","volume":"26 1","pages":"49"},"PeriodicalIF":1.6,"publicationDate":"2025-06-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144295466","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Zebrafish as a tool for autism research: unraveling the roles of Shank3, Cntnap2, Neuroligin3, and Arid1b in synaptic and behavioral abnormalities. 作为自闭症研究工具的斑马鱼:揭示Shank3、Cntnap2、neuroigin3和Arid1b在突触和行为异常中的作用。
IF 1.6 4区 医学
Neurogenetics Pub Date : 2025-06-06 DOI: 10.1007/s10048-025-00828-5
Akansha Pal, Falguni Goel, Vipin Kumar Garg
{"title":"Zebrafish as a tool for autism research: unraveling the roles of Shank3, Cntnap2, Neuroligin3, and Arid1b in synaptic and behavioral abnormalities.","authors":"Akansha Pal, Falguni Goel, Vipin Kumar Garg","doi":"10.1007/s10048-025-00828-5","DOIUrl":"https://doi.org/10.1007/s10048-025-00828-5","url":null,"abstract":"<p><p>Autism Spectrum Disorder, a complex neurodevelopmental disorder, is manifested by deficits in social communication and restricted, repetitive patterns of behavior, interests, or activities. Its molecular mechanism of pathology is not that much understood, though various genetic mutations have been established in its causation. The most important genes are Shank3, Cntnap2, Neuroligin3, and Arid1b. Recently, zebrafish (Danio rerio) have emerged as a highly valuable model organism to study these genetic contributions to ASD, given their genetic tractability, transparent embryos, and ease of behavioral assessment. This review discusses the models of zebrafish used to examine the roles of Shank3, Cntnap2, Neuroligin3, and Arid1b in synaptic function, neuronal connectivity, and behavioral abnormalities characteristic of ASD. We discuss the molecular pathways affected by mutations in these genes, including synapse formation, excitatory/inhibitory balance, and neuronal signaling, which lead to the neurodevelopmental impairments observed in ASD. We have also highlighted the various behavioral assays in zebrafish, such as social interaction tests, sensory processing assays, and repetitive behavior measurements, which are used to study ASD-like phenotypes. The unique advantages of zebrafish include high-throughput potential, the ability to monitor real-time neuronal activity, and the ease with which genetic manipulations can be done. The review focuses on the advancement of zebrafish in understanding ASD and their potential for rising targeted interventions to address core symptoms of the disorder.</p>","PeriodicalId":56106,"journal":{"name":"Neurogenetics","volume":"26 1","pages":"48"},"PeriodicalIF":1.6,"publicationDate":"2025-06-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144236064","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A case series of joubert syndrome evaluated with whole exome sequencing and the utility of optical genome mapping in the diagnosis. joubert综合征的病例系列评估与全外显子组测序和光学基因组定位在诊断中的效用。
IF 1.6 4区 医学
Neurogenetics Pub Date : 2025-05-31 DOI: 10.1007/s10048-025-00825-8
Aslihan Kiraz, Murat Erdogan, Burhan Balta, Hakan Gumus, Mehmet Burak Mutlu, Nurana Mammadova, Firat Ozcelik, Izem Olcay Sahin, Ahmet Sami Guven, Sefer Kumandas, Ahmet Savranlar, Filiz Karaman, Huseyin Per, Munis Dundar
{"title":"A case series of joubert syndrome evaluated with whole exome sequencing and the utility of optical genome mapping in the diagnosis.","authors":"Aslihan Kiraz, Murat Erdogan, Burhan Balta, Hakan Gumus, Mehmet Burak Mutlu, Nurana Mammadova, Firat Ozcelik, Izem Olcay Sahin, Ahmet Sami Guven, Sefer Kumandas, Ahmet Savranlar, Filiz Karaman, Huseyin Per, Munis Dundar","doi":"10.1007/s10048-025-00825-8","DOIUrl":"https://doi.org/10.1007/s10048-025-00825-8","url":null,"abstract":"<p><strong>Background: </strong>Joubert syndrome (JS) is a rare autosomal recessive genetic disease characterized by molar tooth sign, hypotonia during infancy, developmental delay, and/or intellectual disability. Over 40 genes have been associated with the syndrome, and population-specific founder variants have been defined.</p><p><strong>Methods: </strong>In our study, we evaluated 34 patients with clinical, radiological, and laboratory findings. Whole exome sequencing (WES) analysis was performed on all patients to explain the underlying genetic causes. Optical genome mapping (OGM) was performed to elucidate the genetic mechanism in two patients with heterozygous variants after WES analysis.</p><p><strong>Results: </strong>Eighteen homozygous, three compound heterozygous, and two heterozygous variants were present in thirteen patients. AHI1, c.961dupG, p.Asp321fs*5; CPLANE1, c.569A > G, p.Glu190Gly; CPLANE1, c.7495dup, Ile2499Asnfs*2; CC2D2A, c.4143G > T, p.Lys1381Asn; KIAA0586, c.4889 T > C, p.Leu1630Pro; PIBF1, c.1231C > T, p.Arg411Ter; TMEM237, c.591delG, p.Thr198Profs*5; TMEM138, c.376G > C, p.Ala126Pro were novel variants. In addition, in the OGM analysis, a heterozygous insertion was detected in the 3'UTR region of RPGRIP1L. Patients with a diagnosis of JS that could not be explained by WES itself but could be explained together with OGM were discussed.</p><p><strong>Conclusion: </strong>This study contributes to the clinical and molecular characteristics of JS patients. Despite growing literature about JS, this is the first study to use OGM for the diagnosis.</p>","PeriodicalId":56106,"journal":{"name":"Neurogenetics","volume":"26 1","pages":"47"},"PeriodicalIF":1.6,"publicationDate":"2025-05-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144192540","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A recurrent c.953A>C (p. Gln318Pro) variant in ALG11 causing congenital disorder of glycosylation in Turkish population. 一种在土耳其人群中引起先天性糖基化障碍的ALG11中复发的C . 953a >c (p. Gln318Pro)变异。
IF 1.6 4区 医学
Neurogenetics Pub Date : 2025-05-27 DOI: 10.1007/s10048-025-00826-7
Pinar Ozkan Kart, Oguzhan Demir, Ayberk Turkyilmaz, Alper Han Cebi, Ali Cansu
{"title":"A recurrent c.953A>C (p. Gln318Pro) variant in ALG11 causing congenital disorder of glycosylation in Turkish population.","authors":"Pinar Ozkan Kart, Oguzhan Demir, Ayberk Turkyilmaz, Alper Han Cebi, Ali Cansu","doi":"10.1007/s10048-025-00826-7","DOIUrl":"10.1007/s10048-025-00826-7","url":null,"abstract":"<p><p>Congenital disorders of glycosylation type 1p, one of the N-glycosylation defects, Asparagine-dependent glycosylation 11 (ALG11-CDG, #OMIM: 613,666), is a very rare type of autosomal recessive glycosylation defect that causes multisystem involvement and frequently presents with neurological symptoms such as epilepsy and neuromotor developmental delay. In this study, we aimed to present three Turkish patients from three unrelated families with the recurrent variant in the ALG11 gene, along with their clinical and genotypic findings, and to compare them with other cases described in the literature. Three patients from three unrelated families were identified who were comprehensively evaluated with clinical examination, laboratory tests, and imaging studies. The whole exome sequencing (WES) with copy number analysis was performed. The identified variants were confirmed in the proband and parents using Sanger sequencing. Common clinical features of the patients included refractory epileptic seizures, developmental delay, and microcephaly, consistent with the literature. Developmental and Epileptic Encephalopathy starting in the first year of life and burst suppression pattern observed in electroencephalogram are among the important clinical features. WES analysis revealed a homozygous NM_001004127.3: c.953A > C (p. Gln318Pro) missense variant in the ALG11 gene in all three patients. This study presents the clinical and genetic features of three Turkish patients with the ALG11-CDG subtype, which has been previously described in the literature; it reinforces the current knowledge on phenotypic diversity by comparisons with similar cases. In addition, the role of WES in the diagnosis of rare CDG subtypes has been demonstrated once again.</p>","PeriodicalId":56106,"journal":{"name":"Neurogenetics","volume":"26 1","pages":"46"},"PeriodicalIF":1.6,"publicationDate":"2025-05-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144152997","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A heterozygous variation of PINK1 is potentially associated with essential tremor in a Chinese family. PINK1的杂合变异可能与中国一个家庭的特发性震颤有关。
IF 1.6 4区 医学
Neurogenetics Pub Date : 2025-05-26 DOI: 10.1007/s10048-025-00827-6
Bin Wang, Bin Wei, Likui Lu, Sha Liu, Wei Ge, Miao Sun
{"title":"A heterozygous variation of PINK1 is potentially associated with essential tremor in a Chinese family.","authors":"Bin Wang, Bin Wei, Likui Lu, Sha Liu, Wei Ge, Miao Sun","doi":"10.1007/s10048-025-00827-6","DOIUrl":"10.1007/s10048-025-00827-6","url":null,"abstract":"<p><p>Essential tremor (ET) is a common movement disorder, but its pathophysiologic mechanisms remain elusive. So far, a few genes/loci have been identified, but because of genetic heterogeneity, the genetic etiology of ET is still one of the main challenges. In this study, we report an autosomal dominant ET Chinese pedigree in which the patients presented with involuntary tremor of the head or upper limbs, with a slow progression of symptoms, no difficulty in starting and turning, no slow walking, no other significant findings were noted on neurological examination. A heterozygous missense mutation (c.158G > A, p.G53D) in PINK1 (PTEN-induced kinase 1) was identified by whole-exome sequencing of four affected individuals from this ET family. Confirmed by Sanger sequencing, we find that this PINK1 missense variant co-segregate with ET phenotypes in this pedigree with all the affected subjects, showing clear genotype-phenotype correlation. In addition, the new missense mutation was functionally analyzed by western blotting and mitochondrial membrane potential assay after cell transfection. It was found that PINK1 may play a protective role for cells, whereas the c.158G > A (p.G53D) missense mutation leads to a loss of cellular protection, thereby increasing cellular sensitivity to stress. Thus, this study provides a heterozygous missense mutation in PINK1 potentially associated with ET.</p>","PeriodicalId":56106,"journal":{"name":"Neurogenetics","volume":"26 1","pages":"45"},"PeriodicalIF":1.6,"publicationDate":"2025-05-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144144556","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Identification of mutations in five Pakistani families with Epilepsy. 五个巴基斯坦癫痫家族的突变鉴定。
IF 1.6 4区 医学
Neurogenetics Pub Date : 2025-05-19 DOI: 10.1007/s10048-025-00824-9
Nayab Ahsan, Arsalan Ahmad, Shahnawaz Hussain, Nasreen Fatima, Imran Khan Yousafzai, Umm-E- Kalsoom, Rubina Dad, Muhammad Jawad Hassan
{"title":"Identification of mutations in five Pakistani families with Epilepsy.","authors":"Nayab Ahsan, Arsalan Ahmad, Shahnawaz Hussain, Nasreen Fatima, Imran Khan Yousafzai, Umm-E- Kalsoom, Rubina Dad, Muhammad Jawad Hassan","doi":"10.1007/s10048-025-00824-9","DOIUrl":"https://doi.org/10.1007/s10048-025-00824-9","url":null,"abstract":"<p><p>Epilepsy is a group of neurological conditions characterized by epileptic seizures, which are episodes that may vary from brief and nearly undetectable to long periods of vigorous shaking. Due to high rates of close family marriages (consanguinity) in the Pakistani population, families with multiple affected individuals showing novel or known epilepsy phenotypes are likely to present. The present study aimed to identify the genetic causes of epileptic conditions (isolated or syndromic) in selected families. For this purpose, five families (A-E) with multiple affected individuals showing a form of epilepsy were recruited after thorough clinical investigations. Next Generation Sequencing (NGS) based gene panel testing was applied to identify the pathogenic variants in these families. DNA samples of one affected individual from each family were sent to a renowned genetic testing lab (Invitae, USA) for Epilepsy Comprehensive Gene Panel Testing. Bioinformatics (SIFT, PolyPhen2) tools were used to validate the pathogenicity of identified mutations. We identified five previously reported mutations in these five families; all of them were predicted to be pathogenic by bioinformatics analysis. The findings would certainly help enhance our understanding regarding the etiology of inherited epilepsies and would facilitate genetic counseling and clinical management in these families.</p>","PeriodicalId":56106,"journal":{"name":"Neurogenetics","volume":"26 1","pages":"44"},"PeriodicalIF":1.6,"publicationDate":"2025-05-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144095984","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A novel FBXW11 variant in a patient with neurodevelopmental, jaw, eye, and digital syndrome. 神经发育、颌、眼和指综合征患者的新型FBXW11变异
IF 1.6 4区 医学
Neurogenetics Pub Date : 2025-04-03 DOI: 10.1007/s10048-025-00822-x
Anna Maznina, Daria Molodtsova-Zolotukhina, Nina Andreeva, Anton Esibov, Fatima M Bostanova, Artem Sharkov, Natalya A Doroshchuk, Olesya V Sagaydak, Olga S Groznova, Mary Woroncow, Viktor P Bogdanov, Pavel Y Volchkov
{"title":"A novel FBXW11 variant in a patient with neurodevelopmental, jaw, eye, and digital syndrome.","authors":"Anna Maznina, Daria Molodtsova-Zolotukhina, Nina Andreeva, Anton Esibov, Fatima M Bostanova, Artem Sharkov, Natalya A Doroshchuk, Olesya V Sagaydak, Olga S Groznova, Mary Woroncow, Viktor P Bogdanov, Pavel Y Volchkov","doi":"10.1007/s10048-025-00822-x","DOIUrl":"10.1007/s10048-025-00822-x","url":null,"abstract":"<p><p>Neurodevelopmental, jaw, eye, and digital syndrome (NEDJED) is a rare autosomal dominant condition that has demonstrated diverse phenotypes. This is the second case report published on this condition, covering the disease history of an 8 year old patient with a severe manifestation of the disease. The patient was born with hydrocephalus, and demonstrated major developmental delay as he aged. Whole-genome sequencing of the patient and his parents was conducted, detecting a de novo variant, NM_001378974.1:c.1220 A > T [p.Lys407Ile], located in the conserved WD4 region of the WD40 domain of FBXW11, which is consistent with all previously reported patients. The phenotype of the patient is presented with a focus on MRI and EEG features, including images and detailed description for both. While the patient's phenotype is overall consistent with previous findings, there are a number of major factors we believe are caused by the FBXW11 variant that have not been previously described, such as the patient's complete inability to walk.</p>","PeriodicalId":56106,"journal":{"name":"Neurogenetics","volume":"26 1","pages":"41"},"PeriodicalIF":1.6,"publicationDate":"2025-04-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143774930","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Genetic variants associated with idiopathic Parkinson's disease in Latin America: A systematic review. 拉丁美洲与特发性帕金森病相关的遗传变异:一项系统综述
IF 1.6 4区 医学
Neurogenetics Pub Date : 2025-04-03 DOI: 10.1007/s10048-025-00817-8
Felipe Duarte-Zambrano, David Felipe Alfonso-Cedeño, Jorge A Barrero, Luis Alejandro Rodríguez-Vanegas, Valentina Moreno-Cárdenas, Anamaría Olarte-Díaz, Gonzalo Arboleda, Humberto Arboleda
{"title":"Genetic variants associated with idiopathic Parkinson's disease in Latin America: A systematic review.","authors":"Felipe Duarte-Zambrano, David Felipe Alfonso-Cedeño, Jorge A Barrero, Luis Alejandro Rodríguez-Vanegas, Valentina Moreno-Cárdenas, Anamaría Olarte-Díaz, Gonzalo Arboleda, Humberto Arboleda","doi":"10.1007/s10048-025-00817-8","DOIUrl":"10.1007/s10048-025-00817-8","url":null,"abstract":"<p><p>Idiopathic Parkinson's disease (PD) constitutes a complex trait influenced by genetic, environmental, and lifestyle factors, with an estimated heritability of nearly 30%. However, a large proportion of the heritable variation linked to PD remains uncertain, partly due to ancestral bias. Expanding research into Hispanic populations can contribute to address this gap. To review the evidence of genetic variants associated with idiopathic PD in Latin America. A PRISMA-compliant systematic review was conducted in MEDLINE, EMBASE and LILACS, compiling studies published up to February 7, 2025. Nineteen case-control studies were included. Two hypothesis-free studies identified rs525496 near H2BW1 as a protective factor and rs356182 in SNCA as a risk factor through XWAS and GWAS, respectively. Seventeen hypothesis-driven studies examined over three hundred variants, identifying nineteen genetic markers; risk factors included one INDEL in NR4A2, CNV burdens in PRKN, SNCA, and PLA2G6, along with fourteen variants in six loci including GBA, APOEε4, MTHFR, LRRK2, and SNCA. Three SNPs in the PICALM, ALDH1A1, and APOE-ε3 loci were identified as protective factors. Additionally, six SNCA variant haplotypes appear to increase PD risk, while two NR4A2 INDELs haplotypes showed mixed effects. This review summarized genetic loci associated with idiopathic PD in Latin American populations evidencing an overlap with European findings as well as novel loci, although awaiting replication and validation. These observations contribute to the understanding of genetic configuration of the disease and highlight the need for further genomic research in underrepresented groups that include local ancestry analysis within admixed cohorts to guide development of personalized treatments and population-specific interventions.</p>","PeriodicalId":56106,"journal":{"name":"Neurogenetics","volume":"26 1","pages":"43"},"PeriodicalIF":1.6,"publicationDate":"2025-04-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11968493/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143774885","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}
引用次数: 0
The association of SCN1A polymorphisms with epilepsy and drug resistance: a systematic review and meta-analysis. SCN1A多态性与癫痫和耐药的关联:一项系统综述和荟萃分析。
IF 1.6 4区 医学
Neurogenetics Pub Date : 2025-04-03 DOI: 10.1007/s10048-025-00823-w
Ida Mohammadi, Shahryar Rajai Firouzabadi, Aryan Aarabi, Samin Sadraei, Aidin Saadati, Sana Mohammad Soltani, Behnam Safarpour Lima
{"title":"The association of SCN1A polymorphisms with epilepsy and drug resistance: a systematic review and meta-analysis.","authors":"Ida Mohammadi, Shahryar Rajai Firouzabadi, Aryan Aarabi, Samin Sadraei, Aidin Saadati, Sana Mohammad Soltani, Behnam Safarpour Lima","doi":"10.1007/s10048-025-00823-w","DOIUrl":"10.1007/s10048-025-00823-w","url":null,"abstract":"<p><p>Epilepsy is one of the most common neurological afflictions worldwide, with one-third of patients exhibiting resistance to treatment. It has been speculated that the polymorphisms of the sodium channel alpha subunit 1 (SCN1A) gene are associated with both the occurrence of epilepsy and its resistance to treatment. The aim of this study is to systematically review the literature and conduct meta-analyses revealing the associations of the SCN1A polymorphisms with epilepsy and resistance to treatment. We conducted a search of Pubmed, Web of Science, and Scopus, and if more than two studies investigated a polymorphism, odds ratios for association with epilepsy and/or resistance to treatment were calculated in three allelic, homozygous, and recessive genetic models. The initial search yielded 4106 items, and a total of 64 articles met the final inclusion criteria. With respect to the occurrence of epilepsy, the rs2298771 polymorphism was revealed to be negatively associated in the recessive model, while the associations of other polymorphisms were not statistically significant. With regard to resistance to treatment, rs2298771 was revealed to be positively associated across all three models, and rs10167228 was positively associated in the allelic and homozygous models, but not the recessive model. Other polymorphisms were not shown to be associated with resistance to treatment. In conclusion, we demonstrated that the rs2298771 polymorphism had a significant and negative association with the occurrence of epilepsy. Furthermore, rs2298771 and rs10167228 polymorphisms had positive associations with resistance to treatment. Further studies are needed to explore these associations among other polymorphisms.</p>","PeriodicalId":56106,"journal":{"name":"Neurogenetics","volume":"26 1","pages":"42"},"PeriodicalIF":1.6,"publicationDate":"2025-04-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143774887","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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