Pub Date : 2022-02-01Epub Date: 2022-01-10DOI: 10.2217/nmt-2021-0015
Hendrik Stephan Goedee, Yusuf A Rajabally
Chronic inflammatory demyelinating polyneuropathy, its variants and multifocal motor neuropathy belong to a spectrum of peripheral nerve disorders with complex dysimmune disease mechanisms. Awareness of the unique clinical phenotypes but also heterogeneity between patients is vital to arrive at early suspicion and ordering appropriate tests. This includes requirements for optimal electrodiagnostic protocol, aimed to capture sufficient electrophysiologic evidence for relevant abnormalities, a case-based approach on the eventual need to further expand the diagnostic armamentarium and correct reading of their results. Considerable phenotypical variation, diverse combinations of abnormalities found on diagnostic tests and heterogeneity in disease course and treatment response, all contribute to widespread differences in success rates on timely diagnosis and optimal treatment. We aim to provide a practical overview and guidance on relevant diagnostic and management strategies, including pitfalls and present a summary of the relevant novel developments in this field.
{"title":"Evidence base for investigative and therapeutic modalities in chronic inflammatory demyelinating polyneuropathy and multifocal motor neuropathy.","authors":"Hendrik Stephan Goedee, Yusuf A Rajabally","doi":"10.2217/nmt-2021-0015","DOIUrl":"https://doi.org/10.2217/nmt-2021-0015","url":null,"abstract":"<p><p>Chronic inflammatory demyelinating polyneuropathy, its variants and multifocal motor neuropathy belong to a spectrum of peripheral nerve disorders with complex dysimmune disease mechanisms. Awareness of the unique clinical phenotypes but also heterogeneity between patients is vital to arrive at early suspicion and ordering appropriate tests. This includes requirements for optimal electrodiagnostic protocol, aimed to capture sufficient electrophysiologic evidence for relevant abnormalities, a case-based approach on the eventual need to further expand the diagnostic armamentarium and correct reading of their results. Considerable phenotypical variation, diverse combinations of abnormalities found on diagnostic tests and heterogeneity in disease course and treatment response, all contribute to widespread differences in success rates on timely diagnosis and optimal treatment. We aim to provide a practical overview and guidance on relevant diagnostic and management strategies, including pitfalls and present a summary of the relevant novel developments in this field.</p>","PeriodicalId":19114,"journal":{"name":"Neurodegenerative disease management","volume":null,"pages":null},"PeriodicalIF":2.6,"publicationDate":"2022-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39665374","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}
Pub Date : 2022-02-01Epub Date: 2021-12-17DOI: 10.2217/nmt-2021-0028
Thomas Müller
Amantadine is an old, antiviral compound, which moderately improves motor behavior in Parkinson's disease. Its current resurgence results from an innovative, delayed uptake and extended release amantadine hydrochloride capsule, given at bedtime once daily. It is the only approved compound for reduction of involuntary movements, so called dyskinesia, in fluctuating orally levodopa treated patients. It additionally ameliorates 'OFF' intervals characterized by impaired motor behavior. These beneficial effects result from higher and more continuous brain delivery of amantadine. Future clinical research is warranted on preventive effects of this amantadine capsule combined with enzyme blockers of central monoamine oxidase B and peripheral catechol-O-methyltransferase on motor complications in orally levodopa treated patients, as all these pharmacological principles support the concept of continuous dopamine substitution.
金刚烷胺是一种古老的抗病毒化合物,可以适度改善帕金森病患者的运动行为。它目前的复苏源于一种创新的、延迟吸收和缓释的盐酸金刚烷胺胶囊,每天一次在睡前服用。它是唯一被批准的化合物,用于减少波动口服左旋多巴治疗患者的不自主运动,即所谓的运动障碍。它还能改善以运动行为受损为特征的“OFF”间隔。这些有益的效果是由于金刚烷胺的大脑输送量更高、更持续。金刚烷胺胶囊联合中枢单胺氧化酶B和外周儿茶酚- o -甲基转移酶阻断剂对口服左旋多巴患者运动并发症的预防作用有待进一步的临床研究,因为所有这些药理学原理都支持持续多巴胺替代的概念。
{"title":"GOCOVRI<sup>®</sup> (amantadine) extended-release capsules in Parkinson's disease.","authors":"Thomas Müller","doi":"10.2217/nmt-2021-0028","DOIUrl":"https://doi.org/10.2217/nmt-2021-0028","url":null,"abstract":"<p><p>Amantadine is an old, antiviral compound, which moderately improves motor behavior in Parkinson's disease. Its current resurgence results from an innovative, delayed uptake and extended release amantadine hydrochloride capsule, given at bedtime once daily. It is the only approved compound for reduction of involuntary movements, so called dyskinesia, in fluctuating orally levodopa treated patients. It additionally ameliorates 'OFF' intervals characterized by impaired motor behavior. These beneficial effects result from higher and more continuous brain delivery of amantadine. Future clinical research is warranted on preventive effects of this amantadine capsule combined with enzyme blockers of central monoamine oxidase B and peripheral catechol-O-methyltransferase on motor complications in orally levodopa treated patients, as all these pharmacological principles support the concept of continuous dopamine substitution.</p>","PeriodicalId":19114,"journal":{"name":"Neurodegenerative disease management","volume":null,"pages":null},"PeriodicalIF":2.6,"publicationDate":"2022-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39734057","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}
Pub Date : 2022-02-01Epub Date: 2022-01-12DOI: 10.2217/nmt-2021-0041
Jiwon Oh, Bryan Walker, Gavin Giovannoni, Dominic Jack, Fernando Dangond, Axel Nolting, Julie Aldridge, Lori A Lebson, Thomas P Leist
People with multiple sclerosis (also shortened to MS) may have difficulties staying on treatment due to side effects. Cladribine tablets, approved for treating relapsing forms of MS, are given by mouth for four short periods over two years. The benefit of convenient dosing may be lost if side effects prevent people with MS from finishing their treatment. This is the summary of a study that examined side effects from cladribine tablets treatment in the first 12 weeks of two clinical studies called CLARITY and ORACLE-MS. Overall, 34.7% of participants who took cladribine tablets experienced drug-related side effects compared to 23.2% of participants who took placebo. Most side effects were mild and were seen in 54.8% of participants taking cladribine tablets and 59.1% taking the placebo. A low number of participants discontinued treatment due to side effects (1.6% of participants who took cladribine tablets; 1.4% of participants who took placebo). The researchers concluded that cladribine tablets are well-tolerated and people with MS are likely to complete the full treatment course. ClinicalTrials.gov NCT numbers: CLARITY study - NCT00213135 and ORACLE-MS study - NCT00725985.
{"title":"Side effects that occurred early in people with multiple sclerosis during the first year of treatment with cladribine tablets: a plain language summary.","authors":"Jiwon Oh, Bryan Walker, Gavin Giovannoni, Dominic Jack, Fernando Dangond, Axel Nolting, Julie Aldridge, Lori A Lebson, Thomas P Leist","doi":"10.2217/nmt-2021-0041","DOIUrl":"https://doi.org/10.2217/nmt-2021-0041","url":null,"abstract":"<p><p>People with multiple sclerosis (also shortened to MS) may have difficulties staying on treatment due to side effects. Cladribine tablets, approved for treating relapsing forms of MS, are given by mouth for four short periods over two years. The benefit of convenient dosing may be lost if side effects prevent people with MS from finishing their treatment. This is the summary of a study that examined side effects from cladribine tablets treatment in the first 12 weeks of two clinical studies called CLARITY and ORACLE-MS. Overall, 34.7% of participants who took cladribine tablets experienced drug-related side effects compared to 23.2% of participants who took placebo. Most side effects were mild and were seen in 54.8% of participants taking cladribine tablets and 59.1% taking the placebo. A low number of participants discontinued treatment due to side effects (1.6% of participants who took cladribine tablets; 1.4% of participants who took placebo). The researchers concluded that cladribine tablets are well-tolerated and people with MS are likely to complete the full treatment course. ClinicalTrials.gov NCT numbers: CLARITY study - NCT00213135 and ORACLE-MS study - NCT00725985.</p>","PeriodicalId":19114,"journal":{"name":"Neurodegenerative disease management","volume":null,"pages":null},"PeriodicalIF":2.6,"publicationDate":"2022-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39813239","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}
Background: Accurate diagnosis and management of patients with rapidly progressive dementia may be challenging during the COVID-19 pandemic, which has negatively influenced the diagnostic performances, medical resource allocation and routine care for all non-COVID-19 diseases. Case presentation: We herein present a case of a 57-year-old male with rapidly progressive cognitive decline, headache, diplopia, myalgia, unsteady gait, aggression, depression, insomnia, hallucinations and delusions of persecution. COVID-19-associated encephalitis was briefly considered as a differential diagnosis. However, this hypothesis was rejected upon further investigation. A final diagnosis of sporadic Creutzfeldt-Jakob disease was made. Conclusion: A timely and accurate diagnosis of Creutzfeldt-Jakob disease gives patients and their families the chance to receive a good standard of healthcare and avoid extensive evaluations for other conditions.
{"title":"COVID-19-associated encephalitis or Creutzfeldt-Jakob disease: a case report.","authors":"Gooya Tayyebi, Seyed Kazem Malakouti, Behnam Shariati, Leila Kamalzadeh","doi":"10.2217/nmt-2021-0025","DOIUrl":"https://doi.org/10.2217/nmt-2021-0025","url":null,"abstract":"<p><p><b>Background:</b> Accurate diagnosis and management of patients with rapidly progressive dementia may be challenging during the COVID-19 pandemic, which has negatively influenced the diagnostic performances, medical resource allocation and routine care for all non-COVID-19 diseases. <b>Case presentation:</b> We herein present a case of a 57-year-old male with rapidly progressive cognitive decline, headache, diplopia, myalgia, unsteady gait, aggression, depression, insomnia, hallucinations and delusions of persecution. COVID-19-associated encephalitis was briefly considered as a differential diagnosis. However, this hypothesis was rejected upon further investigation. A final diagnosis of sporadic Creutzfeldt-Jakob disease was made. <b>Conclusion:</b> A timely and accurate diagnosis of Creutzfeldt-Jakob disease gives patients and their families the chance to receive a good standard of healthcare and avoid extensive evaluations for other conditions.</p>","PeriodicalId":19114,"journal":{"name":"Neurodegenerative disease management","volume":null,"pages":null},"PeriodicalIF":2.6,"publicationDate":"2022-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8765092/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39951919","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}
Pub Date : 2021-12-01Epub Date: 2021-11-24DOI: 10.2217/nmt-2021-0042
Björn Oskarsson, Nicholas Maragakis, Richard S Bedlack, Namita Goyal, Jenny A Meyer, Angela Genge, Cynthia Bodkin, Samuel Maiser, Nathan Staff, Lorne Zinman, Nicholas Olney, John Turnbull, Benjamin Rix Brooks, Emelia Klonowski, Malath Makhay, Seiichi Yasui, Kazuko Matsuda
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease with motor neuron loss as a defining feature. Despite significant effort, therapeutic breakthroughs have been modest. MN-166 (ibudilast) has demonstrated neuroprotective action by various mechanisms: inhibition of proinflammatory cytokines and macrophage migration inhibitory factor, phosphodiesterase inhibition, and attenuation of glial cell activation in models of ALS. Early-phase studies suggest that MN-166 may improve survival outcomes and slow disease progression in patients with ALS. This article describes the rationale and design of COMBAT-ALS, an ongoing randomized, double-blind, placebo-controlled, multicenter Phase IIb/III study in ALS. This study is designed to evaluate the pharmacokinetics, safety and tolerability and assess the efficacy of MN-166 on function, muscle strength, quality of life and survival in ALS.
{"title":"MN-166 (ibudilast) in amyotrophic lateral sclerosis in a Phase IIb/III study: COMBAT-ALS study design.","authors":"Björn Oskarsson, Nicholas Maragakis, Richard S Bedlack, Namita Goyal, Jenny A Meyer, Angela Genge, Cynthia Bodkin, Samuel Maiser, Nathan Staff, Lorne Zinman, Nicholas Olney, John Turnbull, Benjamin Rix Brooks, Emelia Klonowski, Malath Makhay, Seiichi Yasui, Kazuko Matsuda","doi":"10.2217/nmt-2021-0042","DOIUrl":"https://doi.org/10.2217/nmt-2021-0042","url":null,"abstract":"<p><p>Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease with motor neuron loss as a defining feature. Despite significant effort, therapeutic breakthroughs have been modest. MN-166 (ibudilast) has demonstrated neuroprotective action by various mechanisms: inhibition of proinflammatory cytokines and macrophage migration inhibitory factor, phosphodiesterase inhibition, and attenuation of glial cell activation in models of ALS. Early-phase studies suggest that MN-166 may improve survival outcomes and slow disease progression in patients with ALS. This article describes the rationale and design of COMBAT-ALS, an ongoing randomized, double-blind, placebo-controlled, multicenter Phase IIb/III study in ALS. This study is designed to evaluate the pharmacokinetics, safety and tolerability and assess the efficacy of MN-166 on function, muscle strength, quality of life and survival in ALS.</p>","PeriodicalId":19114,"journal":{"name":"Neurodegenerative disease management","volume":null,"pages":null},"PeriodicalIF":2.6,"publicationDate":"2021-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39765803","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}
Pub Date : 2021-12-01Epub Date: 2021-12-03DOI: 10.2217/nmt-2021-0030
Jeffrey Kaplan, Tamara Miller, Matthew Baker, Bryan Due, Enxu Zhao
Aim: To determine whether clinicians evaluate American Academy of Neurology (AAN) quality metrics for patients with multiple sclerosis (MS) relapse and whether repository corticotropin injection (RCI) improves clinical and patient-reported outcomes associated with these metrics at 2 and 6 months after treatment. Methods: A multicenter, prospective, observational registry evaluating patients receiving RCI for MS relapse (N = 125) categorized data according to AAN quality metrics involving diagnosis, disability, fatigue, cognitive impairment, depression, and quality of life. Results: Clinicians assessed all 11 AAN quality metrics in patients with MS relapse. Disability, fatigue, cognitive impairment, depression, and quality of life outcomes improved with RCI therapy. Conclusion: RCI was associated with improved quality metrics, and AAN guidelines were followed during routine RCI treatment for MS relapse.
{"title":"Repository corticotropin injection improves quality metrics in an observational study of multiple sclerosis relapse.","authors":"Jeffrey Kaplan, Tamara Miller, Matthew Baker, Bryan Due, Enxu Zhao","doi":"10.2217/nmt-2021-0030","DOIUrl":"https://doi.org/10.2217/nmt-2021-0030","url":null,"abstract":"<p><p><b>Aim:</b> To determine whether clinicians evaluate American Academy of Neurology (AAN) quality metrics for patients with multiple sclerosis (MS) relapse and whether repository corticotropin injection (RCI) improves clinical and patient-reported outcomes associated with these metrics at 2 and 6 months after treatment. <b>Methods:</b> A multicenter, prospective, observational registry evaluating patients receiving RCI for MS relapse (N = 125) categorized data according to AAN quality metrics involving diagnosis, disability, fatigue, cognitive impairment, depression, and quality of life. <b>Results:</b> Clinicians assessed all 11 AAN quality metrics in patients with MS relapse. Disability, fatigue, cognitive impairment, depression, and quality of life outcomes improved with RCI therapy. <b>Conclusion:</b> RCI was associated with improved quality metrics, and AAN guidelines were followed during routine RCI treatment for MS relapse.</p>","PeriodicalId":19114,"journal":{"name":"Neurodegenerative disease management","volume":null,"pages":null},"PeriodicalIF":2.6,"publicationDate":"2021-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39688248","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}
Pub Date : 2021-12-01Epub Date: 2021-11-08DOI: 10.2217/nmt-2021-0027
Milena Magalhães Augusto, Roberta Gonçalves da Silva, Mario Emílio Teixeira Dourado Júnior, Juliana Fernandes Godoy, Leonardo Wanderley Lopes, Leandro Pernambuco
Aim: We aimed to analyze the relationship between tongue measurements and vallecular residue in patients with amyotrophic lateral sclerosis (ALS). Materials & methods: Twenty-one patients with ALS were assessed for posterior maximum tongue isometric pressure (PMTIP) and posterior tongue isometric endurance (PTIE) by the Iowa Oral Performance Instrument; vallecular residue after 10 ml of moderately thickened consistency by Fiberoptic Endoscopic Evaluation of Swallowing; and tongue thickness (TT) by ultrasonography. Results: PMTIP, PTIE and TT were decreased compared with the reference values for healthy individuals and were not different between patients with and without vallecular residue. Conclusion: In ALS, PMTIP, PTIE and TT are not good predictors of vallecular residue in the tested volume and food consistency.
{"title":"Tongue measurements and pharyngeal residue in amyotrophic lateral sclerosis.","authors":"Milena Magalhães Augusto, Roberta Gonçalves da Silva, Mario Emílio Teixeira Dourado Júnior, Juliana Fernandes Godoy, Leonardo Wanderley Lopes, Leandro Pernambuco","doi":"10.2217/nmt-2021-0027","DOIUrl":"https://doi.org/10.2217/nmt-2021-0027","url":null,"abstract":"<p><p><b>Aim:</b> We aimed to analyze the relationship between tongue measurements and vallecular residue in patients with amyotrophic lateral sclerosis (ALS). <b>Materials & methods:</b> Twenty-one patients with ALS were assessed for posterior maximum tongue isometric pressure (PMTIP) and posterior tongue isometric endurance (PTIE) by the Iowa Oral Performance Instrument; vallecular residue after 10 ml of moderately thickened consistency by Fiberoptic Endoscopic Evaluation of Swallowing; and tongue thickness (TT) by ultrasonography. <b>Results:</b> PMTIP, PTIE and TT were decreased compared with the reference values for healthy individuals and were not different between patients with and without vallecular residue. <b>Conclusion:</b> In ALS, PMTIP, PTIE and TT are not good predictors of vallecular residue in the tested volume and food consistency.</p>","PeriodicalId":19114,"journal":{"name":"Neurodegenerative disease management","volume":null,"pages":null},"PeriodicalIF":2.6,"publicationDate":"2021-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39599899","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}
Pub Date : 2021-12-01Epub Date: 2021-11-17DOI: 10.2217/nmt-2021-0023
Laurence Kristoffer J Batino, John Hiyadan, Debbie Liquete, Manolo Flores
Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder with core clinical features of choreoathetosis, cognitive deficits and behavioral changes. It is a rare disorder, primarily affecting the Caucasian population, and rarely Asians. To date, there are only two reported, genetically proven familial HD cases in the Philippines. We present the case of a 39-year-old Filipino male with a 10-year history of progressive behavior and personality changes followed by cognitive decline and choreoathetotic movements. Neuroimaging showed atrophy of both caudate and putamen with putaminal rim sign. Genetic testing revealed a 47 CAG trinucleotide repeats in the Huntingtin gene; family history is negative. This is the first, genetically proven, sporadic and the third HD case in the Philippines. Despite its rarity, this report highlights the importance of including HD as a possible cause of adult-onset chorea among Filipinos.
{"title":"Sporadic Huntington's disease in the Philippines: a case report.","authors":"Laurence Kristoffer J Batino, John Hiyadan, Debbie Liquete, Manolo Flores","doi":"10.2217/nmt-2021-0023","DOIUrl":"https://doi.org/10.2217/nmt-2021-0023","url":null,"abstract":"<p><p>Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder with core clinical features of choreoathetosis, cognitive deficits and behavioral changes. It is a rare disorder, primarily affecting the Caucasian population, and rarely Asians. To date, there are only two reported, genetically proven familial HD cases in the Philippines. We present the case of a 39-year-old Filipino male with a 10-year history of progressive behavior and personality changes followed by cognitive decline and choreoathetotic movements. Neuroimaging showed atrophy of both caudate and putamen with putaminal rim sign. Genetic testing revealed a 47 CAG trinucleotide repeats in the <i>Huntingtin</i> gene; family history is negative. This is the first, genetically proven, sporadic and the third HD case in the Philippines. Despite its rarity, this report highlights the importance of including HD as a possible cause of adult-onset chorea among Filipinos.</p>","PeriodicalId":19114,"journal":{"name":"Neurodegenerative disease management","volume":null,"pages":null},"PeriodicalIF":2.6,"publicationDate":"2021-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39631535","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}
Pub Date : 2021-12-01Epub Date: 2021-10-20DOI: 10.2217/nmt-2021-0032
Abigail Louise Higgins, Marco Toffoli, Stephen Mullin, Chiao-Yin Lee, Sofia Koletsi, Micol Avenali, Fabio Blandini, Anthony Hv Schapira
Mutations in GBA which are causative of Gaucher disease in their biallelic form, are the most common genetic risk factor for Parkinson's disease (PD). The diagnosis of PD relies upon clinically defined motor features which appear after irreversible neurodegeneration. Prodromal symptoms of PD may provide a means to predict latent pathology, years before the onset of motor features. Previous work has reported prodromal features of PD in GBA mutation carriers, however this has been insufficiently sensitive to identify those that will develop PD. The Remote Assessment of Parkinsonism Supporting Ongoing Development of Interventions in Gaucher Disease (RAPSODI GD) study assesses a large cohort of GBA mutation carriers, to aid development of procedures for earlier diagnosis of PD.
{"title":"The remote assessment of parkinsonism supporting the ongoing development of interventions in Gaucher disease.","authors":"Abigail Louise Higgins, Marco Toffoli, Stephen Mullin, Chiao-Yin Lee, Sofia Koletsi, Micol Avenali, Fabio Blandini, Anthony Hv Schapira","doi":"10.2217/nmt-2021-0032","DOIUrl":"https://doi.org/10.2217/nmt-2021-0032","url":null,"abstract":"<p><p>Mutations in <i>GBA</i> which are causative of Gaucher disease in their biallelic form, are the most common genetic risk factor for Parkinson's disease (PD). The diagnosis of PD relies upon clinically defined motor features which appear after irreversible neurodegeneration. Prodromal symptoms of PD may provide a means to predict latent pathology, years before the onset of motor features. Previous work has reported prodromal features of PD in <i>GBA</i> mutation carriers, however this has been insufficiently sensitive to identify those that will develop PD. The Remote Assessment of Parkinsonism Supporting Ongoing Development of Interventions in Gaucher Disease (RAPSODI GD) study assesses a large cohort of <i>GBA</i> mutation carriers, to aid development of procedures for earlier diagnosis of PD.</p>","PeriodicalId":19114,"journal":{"name":"Neurodegenerative disease management","volume":null,"pages":null},"PeriodicalIF":2.6,"publicationDate":"2021-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39531419","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}