Xuezhu Sun, M. Hirai, Tomoaki Tezuka, Shinya Hirota, Satoshi Yuki
Patients with amyotrophic lateral sclerosis (ALS) experience a slower rate of physical function decline when treated with intravenous edaravone. The oral suspension formulation of edaravone (105 mg) has a similar pharmacokinetic profile to intravenous edaravone (60 mg/60 min). The long‐term safety of oral edaravone in Japanese patients with ALS has not been reported. Therefore, a sub‐analysis of Japanese patients in a global phase 3 study (NCT04165824) was conducted to evaluate the safety and tolerability of oral edaravone in Japanese patients with ALS.This study was a global, open‐label, phase 3 study to evaluate the long‐term safety and tolerability of oral edaravone in patients with ALS. Patients with ALS received oral edaravone (105 mg/day) for 48 weeks. Adverse events in Japanese patients were assessed at week 48.Among the 185 patients enrolled globally, 65 patients were enrolled in Japan (mean age, 59.3 years; mean disease duration, 1.5 years). Most patients experienced treatment‐emergent adverse events (TEAEs) (84.6%), and the most common TEAEs by week 48 were constipation (15.4%), insomnia (12.3%), and back pain (10.8%). Two serious TEAEs were reported: atrial fibrillation and pleural effusion (both n = 1). Three adverse drug reactions (ADRs) were reported: diarrhea, abnormal hepatic function, and fatigue (all n = 1). There were no serious ADRs or TEAEs/ADRs that led to study drug discontinuation.Oral edaravone had a similar safety profile to intravenous edaravone in Japanese patients, and good tolerability over 48 weeks. No new safety concerns were observed in this population.
肌萎缩性脊髓侧索硬化症（ALS）患者在接受静脉注射依达拉奉治疗后，身体机能下降的速度会减慢。依达拉奉口服混悬剂（105 毫克）与静脉注射依达拉奉（60 毫克/60 分钟）具有相似的药代动力学特征。日本 ALS 患者口服依达拉奉的长期安全性尚未见报道。因此，我们对一项全球性 3 期研究（NCT04165824）中的日本患者进行了子分析，以评估日本 ALS 患者口服依达拉奉的安全性和耐受性。这项研究是一项全球性、开放标签的 3 期研究，旨在评估 ALS 患者口服依达拉奉的长期安全性和耐受性。ALS患者口服依达拉奉（105毫克/天）48周。在全球招募的185名患者中，日本招募了65名患者（平均年龄59.3岁；平均病程1.5年）。大多数患者出现了治疗突发不良事件（TEAEs）（84.6%），第48周时最常见的TEAEs是便秘（15.4%）、失眠（12.3%）和背痛（10.8%）。报告了两种严重的 TEAE：心房颤动和胸腔积液（均为 1 例）。报告了三种药物不良反应（ADRs）：腹泻、肝功能异常和疲劳（均为 1 例）。在日本患者中，口服依达拉奉的安全性与静脉注射依达拉奉相似，48周的耐受性良好。在这一人群中未发现新的安全性问题。
{"title":"Long‐term safety of oral edaravone in Japanese patients with amyotrophic lateral sclerosis: Sub‐analysis of a global, open‐label, phase 3 study","authors":"Xuezhu Sun, M. Hirai, Tomoaki Tezuka, Shinya Hirota, Satoshi Yuki","doi":"10.1111/ncn3.12789","DOIUrl":"https://doi.org/10.1111/ncn3.12789","url":null,"abstract":"Patients with amyotrophic lateral sclerosis (ALS) experience a slower rate of physical function decline when treated with intravenous edaravone. The oral suspension formulation of edaravone (105 mg) has a similar pharmacokinetic profile to intravenous edaravone (60 mg/60 min). The long‐term safety of oral edaravone in Japanese patients with ALS has not been reported. Therefore, a sub‐analysis of Japanese patients in a global phase 3 study (NCT04165824) was conducted to evaluate the safety and tolerability of oral edaravone in Japanese patients with ALS.This study was a global, open‐label, phase 3 study to evaluate the long‐term safety and tolerability of oral edaravone in patients with ALS. Patients with ALS received oral edaravone (105 mg/day) for 48 weeks. Adverse events in Japanese patients were assessed at week 48.Among the 185 patients enrolled globally, 65 patients were enrolled in Japan (mean age, 59.3 years; mean disease duration, 1.5 years). Most patients experienced treatment‐emergent adverse events (TEAEs) (84.6%), and the most common TEAEs by week 48 were constipation (15.4%), insomnia (12.3%), and back pain (10.8%). Two serious TEAEs were reported: atrial fibrillation and pleural effusion (both n = 1). Three adverse drug reactions (ADRs) were reported: diarrhea, abnormal hepatic function, and fatigue (all n = 1). There were no serious ADRs or TEAEs/ADRs that led to study drug discontinuation.Oral edaravone had a similar safety profile to intravenous edaravone in Japanese patients, and good tolerability over 48 weeks. No new safety concerns were observed in this population.","PeriodicalId":19154,"journal":{"name":"Neurology and Clinical Neuroscience","volume":null,"pages":null},"PeriodicalIF":0.4,"publicationDate":"2023-12-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138980772","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}
Spinocerebellar ataxia type 31 (SCA31) is an autosomal‐dominant neurodegenerative condition caused by a 2.5–3.8 kb‐long complex repeat containing (TGGAA/TTCCA)n in an intron shared by two genes called brain expressed, associated with Nedd4 (BEAN1) and thymidine kinase 2 (TK2) located in the human chromosome 16q22.1. Since BEAN1 and TK2 are transcribed in mutually opposite directions in human brains, two independently transcribed RNAs containing either (UGGAA)n or (UUCCA)n are likely to associate with the pathogenesis of SCA31. Recently, a minor TK2 mRNA isoform called TK2‐EXT was confirmed to be transcribed in human cerebellum, suggesting that (UUCCA)n is indeed expressed. The level of TK2 mRNA and TK2 protein expression levels was both preserved in SCA31 human cerebellum, suggesting that the expression of (UUCCA)n does not affect the expression of TK2, and hence, the function of TK2 seemed to be preserved. On the other hand, the other penta‐nucleotide RNA repeat (UGGAA)n, expressed through BEAN1 transcription, is likely to conform toxicity through forming abnormal RNA structures called RNA foci in the nucleus of expressing cells. In addition, three proteins TDP‐43, FUS, and hnRNPA2/B1 that commonly have a capacity to bind with (UGGAA)n reduced the number of RNA foci, and ameliorated the phenotype brought by (UGGAA)n in Drosophila. A small compound naphthyridine carbamate dimer that binds to (UGGAA)n dampened the (UGGAA)n toxicity in Drosophila, further supporting the idea that (UGGAA)n expressed by BEAN1 is pathogenic. Therefore, a plausible approach to treat SCA31 may be considered by administering agents with a capacity binding to (UGGAA)n.
{"title":"Recent topics of spinocerebellar ataxia type 31","authors":"Kinya Ishikawa","doi":"10.1111/ncn3.12788","DOIUrl":"https://doi.org/10.1111/ncn3.12788","url":null,"abstract":"Spinocerebellar ataxia type 31 (SCA31) is an autosomal‐dominant neurodegenerative condition caused by a 2.5–3.8 kb‐long complex repeat containing (TGGAA/TTCCA)n in an intron shared by two genes called brain expressed, associated with Nedd4 (BEAN1) and thymidine kinase 2 (TK2) located in the human chromosome 16q22.1. Since BEAN1 and TK2 are transcribed in mutually opposite directions in human brains, two independently transcribed RNAs containing either (UGGAA)n or (UUCCA)n are likely to associate with the pathogenesis of SCA31. Recently, a minor TK2 mRNA isoform called TK2‐EXT was confirmed to be transcribed in human cerebellum, suggesting that (UUCCA)n is indeed expressed. The level of TK2 mRNA and TK2 protein expression levels was both preserved in SCA31 human cerebellum, suggesting that the expression of (UUCCA)n does not affect the expression of TK2, and hence, the function of TK2 seemed to be preserved. On the other hand, the other penta‐nucleotide RNA repeat (UGGAA)n, expressed through BEAN1 transcription, is likely to conform toxicity through forming abnormal RNA structures called RNA foci in the nucleus of expressing cells. In addition, three proteins TDP‐43, FUS, and hnRNPA2/B1 that commonly have a capacity to bind with (UGGAA)n reduced the number of RNA foci, and ameliorated the phenotype brought by (UGGAA)n in Drosophila. A small compound naphthyridine carbamate dimer that binds to (UGGAA)n dampened the (UGGAA)n toxicity in Drosophila, further supporting the idea that (UGGAA)n expressed by BEAN1 is pathogenic. Therefore, a plausible approach to treat SCA31 may be considered by administering agents with a capacity binding to (UGGAA)n.","PeriodicalId":19154,"journal":{"name":"Neurology and Clinical Neuroscience","volume":null,"pages":null},"PeriodicalIF":0.4,"publicationDate":"2023-12-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138595844","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}
Limited research has suggested that trigeminal neuralgia (TN), an often‐idiopathic pain disorder affecting the face and head, may arise from compression of the cervical spinal cord due to involvement of the spinal trigeminal tract. We hypothesized that adults with TN would have a greater likelihood of concurrent degenerative cervical myelopathy (DCM) compared to matched adults without TN.We retrieved de‐identified data from a US network (TriNetX, Inc.) including medical records of >113 million patients, with a query date of October 1, 2023, and data spanning the previous 20 years. We created two groups of adults (aged ≥18 years): Those with (1) TN and (2) No TN, excluding individuals with predisposing conditions for TN (e.g., multiple sclerosis, ophthalmic and oral/maxillofacial surgery) and propensity matched for confounders (e.g., age, sex, body mass index, diabetes mellitus, hypertensive diseases, migraine, osteoporosis). We calculated the point prevalence and odds ratio (OR) of DCM with 95% confidence intervals (CI).After matching there were 37,163 patients per group. The mean point prevalence of DCM in the TN group was 0.55% (95% CI: 0.47–0.63%) compared with 0.04% (0.03–0.06%) in the no TN group, yielding an OR of 12.94 (95% CI: 7.78–21.53; p < 0.0001).Adults with TN had more than 12 times greater odds of concurrent DCM compared to those without TN. These findings suggest that DCM may be a risk factor for TN, yet causality should be further examined using case–control or cohort designs.
{"title":"Association between trigeminal neuralgia and degenerative cervical myelopathy: A cross‐sectional study using US data","authors":"R. Trager, Elainie C. Theodorou, Eric Chun Pu Chu","doi":"10.1111/ncn3.12787","DOIUrl":"https://doi.org/10.1111/ncn3.12787","url":null,"abstract":"Limited research has suggested that trigeminal neuralgia (TN), an often‐idiopathic pain disorder affecting the face and head, may arise from compression of the cervical spinal cord due to involvement of the spinal trigeminal tract. We hypothesized that adults with TN would have a greater likelihood of concurrent degenerative cervical myelopathy (DCM) compared to matched adults without TN.We retrieved de‐identified data from a US network (TriNetX, Inc.) including medical records of >113 million patients, with a query date of October 1, 2023, and data spanning the previous 20 years. We created two groups of adults (aged ≥18 years): Those with (1) TN and (2) No TN, excluding individuals with predisposing conditions for TN (e.g., multiple sclerosis, ophthalmic and oral/maxillofacial surgery) and propensity matched for confounders (e.g., age, sex, body mass index, diabetes mellitus, hypertensive diseases, migraine, osteoporosis). We calculated the point prevalence and odds ratio (OR) of DCM with 95% confidence intervals (CI).After matching there were 37,163 patients per group. The mean point prevalence of DCM in the TN group was 0.55% (95% CI: 0.47–0.63%) compared with 0.04% (0.03–0.06%) in the no TN group, yielding an OR of 12.94 (95% CI: 7.78–21.53; p < 0.0001).Adults with TN had more than 12 times greater odds of concurrent DCM compared to those without TN. These findings suggest that DCM may be a risk factor for TN, yet causality should be further examined using case–control or cohort designs.","PeriodicalId":19154,"journal":{"name":"Neurology and Clinical Neuroscience","volume":null,"pages":null},"PeriodicalIF":0.4,"publicationDate":"2023-11-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139266663","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}
Abstract Levodopa‐carbidopa intestinal gel therapy (LCIG), an effective treatment for advanced Parkinson's disease, can cause peripheral neuropathy. We present a 39‐year‐old man with LCIG‐related neuropathy with de novo diabetes mellitus (DM), decreased vitamin B6 and folate levels, and elevated homocysteine levels that developed over 2 years of LCIG treatment. Physicians should assess levels of levodopa metabolism‐associated vitamins and monitor risk factors of peripheral neuropathy, such as DM, before and after LCIG initiation.
{"title":"Sensory neuropathy complicated with de novo diabetes mellitus during levodopa‐carbidopa intestinal gel infusion in a patient with Parkinson's disease: A case report","authors":"Tatsuya Ueno, Masayuki Baba, Rie Haga, Akira Arai, Nobutaka Hattori, Masahiko Tomiyama","doi":"10.1111/ncn3.12785","DOIUrl":"https://doi.org/10.1111/ncn3.12785","url":null,"abstract":"Abstract Levodopa‐carbidopa intestinal gel therapy (LCIG), an effective treatment for advanced Parkinson's disease, can cause peripheral neuropathy. We present a 39‐year‐old man with LCIG‐related neuropathy with de novo diabetes mellitus (DM), decreased vitamin B6 and folate levels, and elevated homocysteine levels that developed over 2 years of LCIG treatment. Physicians should assess levels of levodopa metabolism‐associated vitamins and monitor risk factors of peripheral neuropathy, such as DM, before and after LCIG initiation.","PeriodicalId":19154,"journal":{"name":"Neurology and Clinical Neuroscience","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-11-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"134954103","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}
Abstract Background Tracheostomy positive pressure ventilation ( TPPV ) is associated with complications in patients with amyotrophic lateral sclerosis ( ALS ), particularly tracheostomy tube‐related problems. Aim To determine the frequency of patients with ALS who received TPPV that have tracheal enlargement and factors associated with changes in tracheal diameter. Methods We included 43 patients with ALS undergoing TPPV who were admitted at Sayama Neurological Hospital in October 2019. The tracheal diameter at the height of the tracheostomy tube cuff was measured radiographically at specific time points. Tidal volume, inspiratory maximum pressure ( PIP ), dynamic lung compliance (Cdyn), tracheostomy tube cuff data, and patient demographic information and data were also collected. Results The frequency of tracheomegaly was 60.5% at the initial data collection. The differences in tracheal diameter between the first measurement, after 12 months, and between 3 and 12 months were significant. ΔTracheal diameter correlated with TPPV duration, PIP , Cdyn, ΔPIP , ΔCdyn , and tracheal diameter. Multiple regression analysis, with Δtracheal diameter as the objective variable and TPPV duration, Cdyn, and tracheal diameter as explanatory variables, revealed an adjusted R ‐square value of 0.36. Conclusion Tracheomegaly and more enlarged tracheal diameters over time were more frequently observed in patients with ALS receiving TPPV . Furthermore, the trachea dilates over time and the tracheal diameter was related to baseline TPPV time, Cdyn, and tracheal diameter. Patients with shorter baseline TPPV duration, higher baseline Cdyn, and smaller baseline tracheal diameter were more likely to have larger tracheal diameters. Therefore, early prevention is important.
{"title":"Factors involved in the one‐year changes in the tracheal diameter of patients with amyotrophic lateral sclerosis undergoing tracheostomy positive pressure ventilation","authors":"Nobuhiko Shibasaki, Kaoru Konishi, Tetsuo Miyagawa, Takaya Numayama","doi":"10.1111/ncn3.12786","DOIUrl":"https://doi.org/10.1111/ncn3.12786","url":null,"abstract":"Abstract Background Tracheostomy positive pressure ventilation ( TPPV ) is associated with complications in patients with amyotrophic lateral sclerosis ( ALS ), particularly tracheostomy tube‐related problems. Aim To determine the frequency of patients with ALS who received TPPV that have tracheal enlargement and factors associated with changes in tracheal diameter. Methods We included 43 patients with ALS undergoing TPPV who were admitted at Sayama Neurological Hospital in October 2019. The tracheal diameter at the height of the tracheostomy tube cuff was measured radiographically at specific time points. Tidal volume, inspiratory maximum pressure ( PIP ), dynamic lung compliance (Cdyn), tracheostomy tube cuff data, and patient demographic information and data were also collected. Results The frequency of tracheomegaly was 60.5% at the initial data collection. The differences in tracheal diameter between the first measurement, after 12 months, and between 3 and 12 months were significant. ΔTracheal diameter correlated with TPPV duration, PIP , Cdyn, ΔPIP , ΔCdyn , and tracheal diameter. Multiple regression analysis, with Δtracheal diameter as the objective variable and TPPV duration, Cdyn, and tracheal diameter as explanatory variables, revealed an adjusted R ‐square value of 0.36. Conclusion Tracheomegaly and more enlarged tracheal diameters over time were more frequently observed in patients with ALS receiving TPPV . Furthermore, the trachea dilates over time and the tracheal diameter was related to baseline TPPV time, Cdyn, and tracheal diameter. Patients with shorter baseline TPPV duration, higher baseline Cdyn, and smaller baseline tracheal diameter were more likely to have larger tracheal diameters. Therefore, early prevention is important.","PeriodicalId":19154,"journal":{"name":"Neurology and Clinical Neuroscience","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-11-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"134991256","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}
Abstract A 57‐year‐old man presented with progressive muscle weakness in the lower limbs, with elevated anti‐P/Q‐type voltage‐gated calcium channel antibody levels. A repetitive stimulation test showed waxing with high‐frequency stimulation. He was diagnosed with Lambert–Eaton myasthenic syndrome (LEMS) and small‐cell lung cancer. After four courses of cisplatin and etoposide, computed tomography showed a decrease in tumor size and muscle weakness improved. After 3 months, the patient presented with progressive ataxic gait and dysarthria and was admitted to our hospital. Magnetic resonance imaging revealed slight cerebellar atrophy. We diagnosed the patient with paraneoplastic cerebellar degeneration (PCD)‐LEMS. The patient received intravenous immunoglobulin therapy, steroid pulse therapy, and plasmapheresis. The patient's cerebellar ataxia then improved. This represents a rare case of PCD‐LEMS after improvement of LEMS.
{"title":"Paraneoplastic cerebellar degeneration after improvement of <scp>Lambert–Eaton</scp> myasthenic syndrome","authors":"Hiroaki Hirosawa, Hiroki Maesaka, Noriyuki Matsuda, Takamasa Nukui, Shunya Nakane, Yuji Nakatsuji","doi":"10.1111/ncn3.12783","DOIUrl":"https://doi.org/10.1111/ncn3.12783","url":null,"abstract":"Abstract A 57‐year‐old man presented with progressive muscle weakness in the lower limbs, with elevated anti‐P/Q‐type voltage‐gated calcium channel antibody levels. A repetitive stimulation test showed waxing with high‐frequency stimulation. He was diagnosed with Lambert–Eaton myasthenic syndrome (LEMS) and small‐cell lung cancer. After four courses of cisplatin and etoposide, computed tomography showed a decrease in tumor size and muscle weakness improved. After 3 months, the patient presented with progressive ataxic gait and dysarthria and was admitted to our hospital. Magnetic resonance imaging revealed slight cerebellar atrophy. We diagnosed the patient with paraneoplastic cerebellar degeneration (PCD)‐LEMS. The patient received intravenous immunoglobulin therapy, steroid pulse therapy, and plasmapheresis. The patient's cerebellar ataxia then improved. This represents a rare case of PCD‐LEMS after improvement of LEMS.","PeriodicalId":19154,"journal":{"name":"Neurology and Clinical Neuroscience","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-11-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135043857","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":"Neuroradiologic features associated with heat stroke","authors":"Yasutaka Tajima, Yasunori Mito","doi":"10.1111/ncn3.12784","DOIUrl":"https://doi.org/10.1111/ncn3.12784","url":null,"abstract":"","PeriodicalId":19154,"journal":{"name":"Neurology and Clinical Neuroscience","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-11-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135241693","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}
Gorlin-Goltz syndrome (GGS) is an autosomal dominant multisystemic disease with high penetrance. Headache heralding GGS has been previously reported but without discussing potential sources. We report a patient with headache and a novel association (diastematomyelia), which helped with the diagnosis. A 46-year-old woman presented with persistent holocranial headache. On examination, countless hyperpigmented basal cell nevi over the face, pits over the palmar/plantar surface, and palmar and plantar keratosis were observed. A magnetic resonance imaging (MRI) of the spinal cord revealed diastematomyelia. Diagnosis of GGS was finally made. Headache and diastematomyelia should be included in the clinical picture of GGS.
{"title":"Headache as the presenting manifestation of Gorlin-Goltz syndrome with diastematomyelia: A case report.","authors":"Ritwik Ghosh, Moisés León-Ruiz, Siktha Purkait, Dipayan Roy, Tapas Ghosh, Julián Benito-León","doi":"10.1111/ncn3.12767","DOIUrl":"10.1111/ncn3.12767","url":null,"abstract":"<p><p>Gorlin-Goltz syndrome (GGS) is an autosomal dominant multisystemic disease with high penetrance. Headache heralding GGS has been previously reported but without discussing potential sources. We report a patient with headache and a novel association (diastematomyelia), which helped with the diagnosis. A 46-year-old woman presented with persistent holocranial headache. On examination, countless hyperpigmented basal cell nevi over the face, pits over the palmar/plantar surface, and palmar and plantar keratosis were observed. A magnetic resonance imaging (MRI) of the spinal cord revealed diastematomyelia. Diagnosis of GGS was finally made. Headache and diastematomyelia should be included in the clinical picture of GGS.</p>","PeriodicalId":19154,"journal":{"name":"Neurology and Clinical Neuroscience","volume":null,"pages":null},"PeriodicalIF":0.4,"publicationDate":"2023-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10732264/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46010754","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}
Abstract Background The corticobulbar tract (CBT) exerts bilateral supply to the cerebral nuclei. The cerebellar motor circuit controls the coordination and regulation of voluntary movements including speech function, and consists of input and feedback pathways including the parietopontine fibers (PPFs) which descend along with the CBT. Aim The pathogenesis of dysarthria caused by ischemic extracerebellar lesions was studied. Methods Six patients with extracerebellar lesions comprising two patients with pure dysarthria, three patients with dysarthria—(central) facial nerve palsy, and one patient with isolated central facial paresis were enrolled. Results Lesions were located in the corona radiata in four patients and the posterior limb of the internal capsule (PLIC) in two patients. Lesions were lateralized on the right side in three patients and the left side in three patients. Lesions in the corona radiata and the PLIC included the middle parts where the CBT exists. Conclusions Based on the hypothesis of bilateral supply to the cerebral nuclei for speech function through the cerebellar motor circuit, it was explicable that unilateral involvement of the PPFs caused dysfunction of the bilateral CBT, which led to the incidence of dysarthria in our case series. Involvement of the PPFs might play a crucial role in the incidence of dysarthria caused by ischemic extracerebellar lesions.
{"title":"Clinical study of six patients with pure dysarthria and dysarthria—(Central) facial nerve palsy/isolated central facial nerve palsy caused by extracerebellar infarction","authors":"Katsuhiko Ogawa, Takayoshi Akimoto, Makoto Hara, Midori Fujishiro, Hideto Nakajima","doi":"10.1111/ncn3.12782","DOIUrl":"https://doi.org/10.1111/ncn3.12782","url":null,"abstract":"Abstract Background The corticobulbar tract (CBT) exerts bilateral supply to the cerebral nuclei. The cerebellar motor circuit controls the coordination and regulation of voluntary movements including speech function, and consists of input and feedback pathways including the parietopontine fibers (PPFs) which descend along with the CBT. Aim The pathogenesis of dysarthria caused by ischemic extracerebellar lesions was studied. Methods Six patients with extracerebellar lesions comprising two patients with pure dysarthria, three patients with dysarthria—(central) facial nerve palsy, and one patient with isolated central facial paresis were enrolled. Results Lesions were located in the corona radiata in four patients and the posterior limb of the internal capsule (PLIC) in two patients. Lesions were lateralized on the right side in three patients and the left side in three patients. Lesions in the corona radiata and the PLIC included the middle parts where the CBT exists. Conclusions Based on the hypothesis of bilateral supply to the cerebral nuclei for speech function through the cerebellar motor circuit, it was explicable that unilateral involvement of the PPFs caused dysfunction of the bilateral CBT, which led to the incidence of dysarthria in our case series. Involvement of the PPFs might play a crucial role in the incidence of dysarthria caused by ischemic extracerebellar lesions.","PeriodicalId":19154,"journal":{"name":"Neurology and Clinical Neuroscience","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-10-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135871060","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}
Abstract Immune‐mediated necrotizing myopathy (IMNM) is an idiopathic inflammatory myopathy characterized by limb weakness, markedly elevated serum creatine kinase (CK), and muscle fiber necrosis without lymphocytic infiltration. Here, we present a case of IMNM that developed during pregnancy. The patient was treated immediately with systemic corticosteroids, and muscle weakness and serum CK levels were improved without adverse effects on the pregnancy. As there are only a few reports of IMNM during pregnancy, the clinical course and treatment of IMNM during pregnancy are discussed with a review of the literature.
{"title":"Successful treatment of seronegative immune‐mediated necrotizing myopathy developing during pregnancy: A case report and literature review","authors":"Yuto Hayashi, Tatsuhiko Ozono, Goichi Beck, Yuki Yonenobu, Rika Yamashita, Kensuke Ikenaka, Tatsusada Okuno, Shigeo Murayama, Hideki Mochizuki","doi":"10.1111/ncn3.12781","DOIUrl":"https://doi.org/10.1111/ncn3.12781","url":null,"abstract":"Abstract Immune‐mediated necrotizing myopathy (IMNM) is an idiopathic inflammatory myopathy characterized by limb weakness, markedly elevated serum creatine kinase (CK), and muscle fiber necrosis without lymphocytic infiltration. Here, we present a case of IMNM that developed during pregnancy. The patient was treated immediately with systemic corticosteroids, and muscle weakness and serum CK levels were improved without adverse effects on the pregnancy. As there are only a few reports of IMNM during pregnancy, the clinical course and treatment of IMNM during pregnancy are discussed with a review of the literature.","PeriodicalId":19154,"journal":{"name":"Neurology and Clinical Neuroscience","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-10-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"136069182","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}
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