Pub Date : 2025-10-04DOI: 10.1007/s13760-025-02896-8
Brice Fotsing, Alionka Bostan, Bernard Dachy
{"title":"Atypical presentation of a severe form of spontaneous intracranial hypotension due to multiple CSF leaks in the brain and spinal cord: therapeutic challenge.","authors":"Brice Fotsing, Alionka Bostan, Bernard Dachy","doi":"10.1007/s13760-025-02896-8","DOIUrl":"https://doi.org/10.1007/s13760-025-02896-8","url":null,"abstract":"","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2025-10-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145224651","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}
Pub Date : 2025-10-02DOI: 10.1007/s13760-025-02903-y
Sadullah Şimşek, Mehmet Salih Karaca, Ali Oğuz, Tarık Sağlam
{"title":"Acute ischemic stroke triggered by minor trauma in a child with mineralizing vasculopathy: a case report : Pediatric stroke and mineralizing vasculopathy.","authors":"Sadullah Şimşek, Mehmet Salih Karaca, Ali Oğuz, Tarık Sağlam","doi":"10.1007/s13760-025-02903-y","DOIUrl":"https://doi.org/10.1007/s13760-025-02903-y","url":null,"abstract":"","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2025-10-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145211304","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}
Pub Date : 2025-10-02DOI: 10.1007/s13760-025-02901-0
M. Erdogan, E. Olinger, S. Ferrao Santos
{"title":"Atypical Rett syndrome with chorea: a case report","authors":"M. Erdogan, E. Olinger, S. Ferrao Santos","doi":"10.1007/s13760-025-02901-0","DOIUrl":"10.1007/s13760-025-02901-0","url":null,"abstract":"","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":"125 6","pages":"1705 - 1709"},"PeriodicalIF":2.1,"publicationDate":"2025-10-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145211275","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}
Pub Date : 2025-09-30DOI: 10.1007/s13760-025-02907-8
Olivia Pype, Sofie Carrette
Ipsilateral facial, neck, or retroauricular pain is a common but often underrecognized feature of peripheral facial nerve palsy. We report a rare case of posterior auricular nerve neuropathy following facial nerve palsy in the context of polyneuritis cranialis. This case highlights posterior auricular nerve neuropathy as a potential complication of peripheral facial nerve palsy and polyneuritis cranialis. Accurate identification of neuropathic pain and appropriate management are essential. Clinicians should remain vigilant for atypical pain patterns during the course of facial nerve palsy, particularly in the setting of polyneuritis cranialis.
{"title":"Posterior auricular neuropathy as a complication of facial nerve palsy in a patient with polyneuritis cranialis","authors":"Olivia Pype, Sofie Carrette","doi":"10.1007/s13760-025-02907-8","DOIUrl":"10.1007/s13760-025-02907-8","url":null,"abstract":"<div><p>Ipsilateral facial, neck, or retroauricular pain is a common but often underrecognized feature of peripheral facial nerve palsy. We report a rare case of posterior auricular nerve neuropathy following facial nerve palsy in the context of polyneuritis cranialis. This case highlights posterior auricular nerve neuropathy as a potential complication of peripheral facial nerve palsy and polyneuritis cranialis. Accurate identification of neuropathic pain and appropriate management are essential. Clinicians should remain vigilant for atypical pain patterns during the course of facial nerve palsy, particularly in the setting of polyneuritis cranialis.</p></div>","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":"125 6","pages":"1697 - 1700"},"PeriodicalIF":2.1,"publicationDate":"2025-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145197651","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}
Pub Date : 2025-09-30DOI: 10.1007/s13760-025-02897-7
Hai Duc Nguyen
Genetic variants can affect signaling pathways that are important in the pathophysiology of Parkinson’s disease (PD). Comprehending their relationship is crucial for the development of diagnostic instruments and preventative drugs for PD. We thoroughly analyzed data from 68 genome-wide association studies to uncover significant genetic variations and clarify the molecular pathways underlying the etiology of Parkinson’s disease (PD) resulting from genetic variants. Six common biomarkers linked to PD were found in all 68 investigations: SNCA, TMEM175, BST1, RIT2, LRRK2, and MCCC1. SNCA ((uparrow)rs5019538 and (uparrow)rs356182), LRRK2 ((uparrow)rs34637584 and (uparrow)rs76904798), and SH3GL2 ((uparrow)rs10756907 and (downarrow)rs13294100) were the main biomarkers associated with PD. The clinical traits of PD, such as age at onset, cognitive progression, motor progression, composite progression, tremor dominant, and postural instability gait difficulty, have been found to be underpinned by additional biomarkers, including APOE, NTRK2, SLCO1B3, SLC28A3, AQP10, SNCAIP, ANO2, CADM1, PTPRD, GPR32, GPR321, SQOR, SULT1C2, GABRG2, CYP4Z1, CDH13, and FANCF. Significant evidence was found linking genetic variants linked to an increased risk of PD to reduced dopamine production, receptor recycling, oxidoreductase activity, and increased amyloid-beta accumulation. Considerable evidence links genetic variations with a lower risk of PD due to improved synaptic vesicle signaling, neuron projection development, controlled histone methylation, and excitatory postsynaptic potential. Additionally, we found MYT1L and hsa-miR-20a-5p, which are essential for understanding the genetic variations linked to PD. These findings provide a solid underpinning for future therapeutic approaches aimed at PD, with a focus on the genetic variants and processes connected to the illness.
{"title":"Elucidate biomarkers and the molecular pathways associated with genetic variants that contribute to the etiology of Parkinson’s disease","authors":"Hai Duc Nguyen","doi":"10.1007/s13760-025-02897-7","DOIUrl":"10.1007/s13760-025-02897-7","url":null,"abstract":"<div><p>Genetic variants can affect signaling pathways that are important in the pathophysiology of Parkinson’s disease (PD). Comprehending their relationship is crucial for the development of diagnostic instruments and preventative drugs for PD. We thoroughly analyzed data from 68 genome-wide association studies to uncover significant genetic variations and clarify the molecular pathways underlying the etiology of Parkinson’s disease (PD) resulting from genetic variants. Six common biomarkers linked to PD were found in all 68 investigations: <i>SNCA</i>,<i> TMEM175</i>,<i> BST1</i>,<i> RIT2</i>,<i> LRRK2</i>, and <i>MCCC1</i>. <i>SNCA</i> (<span>(uparrow)</span>rs5019538 and <span>(uparrow)</span>rs356182), <i>LRRK2</i> (<span>(uparrow)</span>rs34637584 and <span>(uparrow)</span>rs76904798), and <i>SH3GL2</i> (<span>(uparrow)</span>rs10756907 and <span>(downarrow)</span>rs13294100) were the main biomarkers associated with PD. The clinical traits of PD, such as age at onset, cognitive progression, motor progression, composite progression, tremor dominant, and postural instability gait difficulty, have been found to be underpinned by additional biomarkers, including <i>APOE</i>,<i> NTRK2</i>,<i> SLCO1B3</i>,<i> SLC28A3</i>,<i> AQP10</i>,<i> SNCAIP</i>,<i> ANO2</i>,<i> CADM1</i>,<i> PTPRD</i>,<i> GPR32</i>,<i> GPR321</i>,<i> SQOR</i>,<i> SULT1C2</i>,<i> GABRG2</i>,<i> CYP4Z1</i>,<i> CDH13</i>, and <i>FANCF</i>. Significant evidence was found linking genetic variants linked to an increased risk of PD to reduced dopamine production, receptor recycling, oxidoreductase activity, and increased amyloid-beta accumulation. Considerable evidence links genetic variations with a lower risk of PD due to improved synaptic vesicle signaling, neuron projection development, controlled histone methylation, and excitatory postsynaptic potential. Additionally, we found <i>MYT1L</i> and <i>hsa-miR-20a-5p</i>, which are essential for understanding the genetic variations linked to PD. These findings provide a solid underpinning for future therapeutic approaches aimed at PD, with a focus on the genetic variants and processes connected to the illness.</p><h3>Graphic abstract</h3><div><figure><div><div><picture><source><img></source></picture></div></div></figure></div></div>","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":"125 6","pages":"1621 - 1641"},"PeriodicalIF":2.1,"publicationDate":"2025-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://link.springer.com/content/pdf/10.1007/s13760-025-02897-7.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145197602","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}
Purpose: To determine the prevalence and risk factors associated with migraine and menstrual migraine in women of reproductive age.
Method: This multicenter cross-sectional study included 2049 women who were successfully contacted between May and December 2023. The data were collected via an online interview method using the Individual Identification Form, which was created by the researchers and consists of three parts.
Results: The mean age of the study participants was determined to be 24.19 ± 7.76 years. The prevalence of migraine was found to be 16.4%, while the prevalence of menstrual migraine was 56.4%. A statistically significant relationship was identified between migraine diagnosis and a number of variables, including marital status, educational status, employment status, social security status, income status, family type, smoking habits, alcohol consumption and coffee intake (p < 0.05). A statistically significant relationship was found between menstrual headache and marital status, working in a gainful job, presence of social security, income status, family type, smoking, alcohol use and coffee consumption (p < 0.05).
Conclusion: Many sociodemographic characteristics and habits in women's daily lives are among the risk factors for migraine and menstrual migraine. It is advisable for health professionals to provide comprehensive counseling services to facilitate the adoption of healthy behaviors in relation to these risk factors.
{"title":"Prevalence of migraine menstrual, migraine and risk factors in women of reproductive age; a multi-centre study.","authors":"Meryem Erdoğan Acar, Gonca Buran, Yasemin Özyer Güvener, Çiler Yeygel, Ayşegül Dönmez, Nurten Denizhan Kırcan","doi":"10.1007/s13760-025-02893-x","DOIUrl":"https://doi.org/10.1007/s13760-025-02893-x","url":null,"abstract":"<p><strong>Purpose: </strong>To determine the prevalence and risk factors associated with migraine and menstrual migraine in women of reproductive age.</p><p><strong>Method: </strong>This multicenter cross-sectional study included 2049 women who were successfully contacted between May and December 2023. The data were collected via an online interview method using the Individual Identification Form, which was created by the researchers and consists of three parts.</p><p><strong>Results: </strong>The mean age of the study participants was determined to be 24.19 ± 7.76 years. The prevalence of migraine was found to be 16.4%, while the prevalence of menstrual migraine was 56.4%. A statistically significant relationship was identified between migraine diagnosis and a number of variables, including marital status, educational status, employment status, social security status, income status, family type, smoking habits, alcohol consumption and coffee intake (p < 0.05). A statistically significant relationship was found between menstrual headache and marital status, working in a gainful job, presence of social security, income status, family type, smoking, alcohol use and coffee consumption (p < 0.05).</p><p><strong>Conclusion: </strong>Many sociodemographic characteristics and habits in women's daily lives are among the risk factors for migraine and menstrual migraine. It is advisable for health professionals to provide comprehensive counseling services to facilitate the adoption of healthy behaviors in relation to these risk factors.</p>","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2025-09-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145190679","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}
We report a young Indian woman with a homozygous deletion in FA2H manifesting with a progressive spastic paraparesis, skeletal deformities, and subtle oculomotor signs, thereby broadening the phenotypic spectrum of HSP35. Except for diffuse spinal cord atrophy in MRI, other investigations were non-contributory. Whole exome sequencing with mitochondrial analysis revealed a homozygous variant c.32_34delTCT (p.Phe11del) in FA2H gene in Exon 1 of chromosome 16-a likely pathogenic, autosomal recessive mutation (ACMG: PM2,PM4,PP4-Moderate). This report underscores the importance of considering FA2H-related HSP even in late-onset or atypical presentations of adult-onset spastic paraparesis, especially in consanguineous populations, even when classical imaging findings are absent. Genetic testing remains crucial for diagnosis, prognostication, and counselling.
{"title":"An atypical case of FA2H-related HSP35 with subtle neuroimaging findings and a novel variant in a young adult with spastic paraparesis.","authors":"Subhajit Roy, Pooja Mailankody, Gautham Arunachal, Rohan R Mahale, Hansashree Padmanabha","doi":"10.1007/s13760-025-02899-5","DOIUrl":"https://doi.org/10.1007/s13760-025-02899-5","url":null,"abstract":"<p><p>We report a young Indian woman with a homozygous deletion in FA2H manifesting with a progressive spastic paraparesis, skeletal deformities, and subtle oculomotor signs, thereby broadening the phenotypic spectrum of HSP35. Except for diffuse spinal cord atrophy in MRI, other investigations were non-contributory. Whole exome sequencing with mitochondrial analysis revealed a homozygous variant c.32_34delTCT (p.Phe11del) in FA2H gene in Exon 1 of chromosome 16-a likely pathogenic, autosomal recessive mutation (ACMG: PM2,PM4,PP4-Moderate). This report underscores the importance of considering FA2H-related HSP even in late-onset or atypical presentations of adult-onset spastic paraparesis, especially in consanguineous populations, even when classical imaging findings are absent. Genetic testing remains crucial for diagnosis, prognostication, and counselling.</p>","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2025-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145172093","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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