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Dynamic Video Assessment of Axial Postural Abnormalities in Parkinson's Disease: A Pilot Study.
IF 2.6 4区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2025-01-29 DOI: 10.1002/mdc3.14329
Carlo Alberto Artusi, Christian Geroin, Clarissa Pandino, Serena Camozzi, Stefano Aldegheri, Leonardo Lopiano, Michele Tinazzi, Nicola Bombieri

Background: Axial postural abnormalities (APAs) are frequent and disabling axial symptoms of Parkinson's disease (PD). Image-based measurement is considered the gold standard but may not accurately detect the true severity of APAs because these symptoms can appear or get worse under dynamic conditions.

Objective: The aim was to evaluate quantitative changes in APAs degree during prolonged standing and walking in both single- and dual-task conditions (motor + cognitive).

Methods: We measured the degree of anterior and lateral trunk flexion (LTF) of 16 PD patients using AutoPosturePD during 4 tasks of 3 min each: (1) standing in place in a quiet condition, (2) standing in place while reading, (3) walking without performing other tasks, and (4) walking performing a cognitive task.

Results: During prolonged standing, we found a significant LTF worsening under both single- and dual-task conditions over time (P: 0.010 and 0.018); anterior trunk flexion (ATF) with thoracic and lumbar fulcrum showed a significant worsening only under dual-task conditions (P < 0.05). All trunk flexion angles were higher during dual task compared to single task, and the difference in dual task was already statistically significant after 1 min. During walking, only ATF with lumbar fulcrum showed a significant worsening (P < 0.05), observed in dual task already after 1 min.

Conclusions: Our pilot study suggests that one minute standing while reading may be sufficient to obtain a more reliable measure of the severity of LTF and ATF, with an expected change of ~ 7° for LTF and ATF with thoracic fulcrum and 11° for ATF with lumbar fulcrum.

{"title":"Dynamic Video Assessment of Axial Postural Abnormalities in Parkinson's Disease: A Pilot Study.","authors":"Carlo Alberto Artusi, Christian Geroin, Clarissa Pandino, Serena Camozzi, Stefano Aldegheri, Leonardo Lopiano, Michele Tinazzi, Nicola Bombieri","doi":"10.1002/mdc3.14329","DOIUrl":"https://doi.org/10.1002/mdc3.14329","url":null,"abstract":"<p><strong>Background: </strong>Axial postural abnormalities (APAs) are frequent and disabling axial symptoms of Parkinson's disease (PD). Image-based measurement is considered the gold standard but may not accurately detect the true severity of APAs because these symptoms can appear or get worse under dynamic conditions.</p><p><strong>Objective: </strong>The aim was to evaluate quantitative changes in APAs degree during prolonged standing and walking in both single- and dual-task conditions (motor + cognitive).</p><p><strong>Methods: </strong>We measured the degree of anterior and lateral trunk flexion (LTF) of 16 PD patients using AutoPosturePD during 4 tasks of 3 min each: (1) standing in place in a quiet condition, (2) standing in place while reading, (3) walking without performing other tasks, and (4) walking performing a cognitive task.</p><p><strong>Results: </strong>During prolonged standing, we found a significant LTF worsening under both single- and dual-task conditions over time (P: 0.010 and 0.018); anterior trunk flexion (ATF) with thoracic and lumbar fulcrum showed a significant worsening only under dual-task conditions (P < 0.05). All trunk flexion angles were higher during dual task compared to single task, and the difference in dual task was already statistically significant after 1 min. During walking, only ATF with lumbar fulcrum showed a significant worsening (P < 0.05), observed in dual task already after 1 min.</p><p><strong>Conclusions: </strong>Our pilot study suggests that one minute standing while reading may be sufficient to obtain a more reliable measure of the severity of LTF and ATF, with an expected change of ~ 7° for LTF and ATF with thoracic fulcrum and 11° for ATF with lumbar fulcrum.</p>","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-01-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143059838","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
Longitudinal Changes in Patient- and Clinical-Reported Outcomes in Early Spinocerebellar Ataxia Types 1, 2, 3, and 6 from the IDEA Study.
IF 2.6 4区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2025-01-28 DOI: 10.1002/mdc3.14323
Andreea M Rawlings, Rosalind S Chuang, Jeremy D Schmahmann, Susan L Perlman, Liana S Rosenthal, Delaram Safarpour, Hannah Casey, Fay B Horak, Christopher M Gomez

Background: Clinical outcomes assessments (COAs) in spinocerebellar ataxia (SCA) need to be standardized, ataxia-specific, sensitive to change, clinically relevant, and meaningful to patients.

Objectives: To evaluate the longitudinal 1- and 2-year performances of different patient reported outcomes, including the Patient Reported Outcome Measure of Ataxia (PROM-Ataxia), and clinician reported outcomes, including FARS and SARA, in those with early manifest symptoms of SCA 1, 2, 3, and 6.

Methods: We studied 53 patients with early stage SCA1-3 and SCA6 from The Instrumented Data Exchange for Ataxia Study and 24 age-matched healthy controls. Participants were seen every 6 months for 2 years. Mixed models were used to estimate change over 12- and 24-months of follow-up. Changes on the FARS-FS and PGI-C were used as anchors to estimate meaningful changes.

Results: Among persons with SCA, mean age was 48.7 years and mean SARA score was 9.3. Few measures showed statistically significant changes at 12 months. At 24-months, the FARS-ADL, PROM-Ataxia total, PROM-Ataxia physical, and PROM-Ataxia ADL scores showed the strongest associations of change.

Conclusions: Patient reported or derived outcome measures, such as FARS-ADL and ADL sub domain of the PROM-Ataxia, can capture longitudinal change in patients' symptom experience over a 2-year period and its impact on daily activities, even in those with early disease. More work is needed to identify outcomes that reliably capture change earlier.

{"title":"Longitudinal Changes in Patient- and Clinical-Reported Outcomes in Early Spinocerebellar Ataxia Types 1, 2, 3, and 6 from the IDEA Study.","authors":"Andreea M Rawlings, Rosalind S Chuang, Jeremy D Schmahmann, Susan L Perlman, Liana S Rosenthal, Delaram Safarpour, Hannah Casey, Fay B Horak, Christopher M Gomez","doi":"10.1002/mdc3.14323","DOIUrl":"https://doi.org/10.1002/mdc3.14323","url":null,"abstract":"<p><strong>Background: </strong>Clinical outcomes assessments (COAs) in spinocerebellar ataxia (SCA) need to be standardized, ataxia-specific, sensitive to change, clinically relevant, and meaningful to patients.</p><p><strong>Objectives: </strong>To evaluate the longitudinal 1- and 2-year performances of different patient reported outcomes, including the Patient Reported Outcome Measure of Ataxia (PROM-Ataxia), and clinician reported outcomes, including FARS and SARA, in those with early manifest symptoms of SCA 1, 2, 3, and 6.</p><p><strong>Methods: </strong>We studied 53 patients with early stage SCA1-3 and SCA6 from The Instrumented Data Exchange for Ataxia Study and 24 age-matched healthy controls. Participants were seen every 6 months for 2 years. Mixed models were used to estimate change over 12- and 24-months of follow-up. Changes on the FARS-FS and PGI-C were used as anchors to estimate meaningful changes.</p><p><strong>Results: </strong>Among persons with SCA, mean age was 48.7 years and mean SARA score was 9.3. Few measures showed statistically significant changes at 12 months. At 24-months, the FARS-ADL, PROM-Ataxia total, PROM-Ataxia physical, and PROM-Ataxia ADL scores showed the strongest associations of change.</p><p><strong>Conclusions: </strong>Patient reported or derived outcome measures, such as FARS-ADL and ADL sub domain of the PROM-Ataxia, can capture longitudinal change in patients' symptom experience over a 2-year period and its impact on daily activities, even in those with early disease. More work is needed to identify outcomes that reliably capture change earlier.</p>","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-01-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143059840","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 Short Cognitive and Neuropsychiatric Assessment Scale for Progressive Supranuclear Palsy.
IF 2.6 4区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2025-01-27 DOI: 10.1002/mdc3.14348
Sonja Porsche, Martin Klietz, Stephan Greten, Ines A Piot, Ida Jensen, Florian Wegner, Lan Ye, Lea Krey, Matthias Höllerhage, Monika Pötter-Nerger, Molly Zeitzschel, Keno Hagena, Jan Kassubek, Patrick Süß, Jürgen Winkler, Daniela Berg, Steffen Paschen, Lars Tönges, Doreen Gruber, Florin Gandor, Wolfgang H Jost, Andrea A Kühn, Inga Claus, Tobias Warnecke, David J Pedrosa, Carsten Eggers, Claudia Trenkwalder, Joseph Classen, Johannes Schwarz, Alfons Schnitzler, Patricia Krause, Anja Schneider, Moritz Brandt, Björn Falkenburger, Inga Zerr, Mathias Bähr, Endy Weidinger, Johannes Levin, Sabrina Katzdobler, Emrah Düzel, Wenzel Glanz, Stefan Teipel, Ingo Kilimann, Johannes Prudlo, Thomas Gasser, Kathrin Brockmann, Annika Spottke, Anna Esser, Gabor C Petzold, Gesine Respondek, Günter U Höglinger

Background: Patients with Progressive Supranuclear Palsy (PSP) suffer from several neuropsychological impairments. These mainly affect the frontal lobe and subcortical brain structures. However, a scale for the assessment of cognitive and neuropsychiatric disability in PSP is still missing.

Objectives: To create and validate a new scale for cognitive and neuropsychiatric impairment in PSP.

Methods: The Short Cognitive and Neuropsychiatric (ShoCo) scale was developed containing five items (bradyphrenia, apathy, aphasia, dysexecution and disinhibition). Each item can be categorized into 0 = no deficit, 1 = mild deficit, 2 = moderate deficit and 3 = severe deficit. The total score includes 15 points, 0 meaning no deficit and 15 severe deficits. Cross-sectional and longitudinal data from 201 baseline and 71 follow up patients were analyzed.

Results: Baseline ShoCo scale results were 5.9 ± 2.9. No significant differences between patients with Richardson syndrome (PSP-RS) and variants (vPSP) could be detected in the PSP-ShoCo scale scores (PSP-RS 6.1 ± 3.0, n = 160, vPSP 5.1 ± 2.6, n = 41, P = 0.057). The scale showed good correlation with established scores (eg, Montreal cognitive assessment r = -0.535, P = 0.001). The ShoCo scale showed significant annualized change within the PSP-RS patients (baseline 6.2 ± 2.9, follow up 6.9 ± 3.1, annualized diff. 1.0 ± 3.1, n = 57, P = 0.022).

Conclusions: The ShoCo scale seems a promising and valid tool to measure specific neuropsychological disabilities of PSP patients in clinical routine and research.

{"title":"A Short Cognitive and Neuropsychiatric Assessment Scale for Progressive Supranuclear Palsy.","authors":"Sonja Porsche, Martin Klietz, Stephan Greten, Ines A Piot, Ida Jensen, Florian Wegner, Lan Ye, Lea Krey, Matthias Höllerhage, Monika Pötter-Nerger, Molly Zeitzschel, Keno Hagena, Jan Kassubek, Patrick Süß, Jürgen Winkler, Daniela Berg, Steffen Paschen, Lars Tönges, Doreen Gruber, Florin Gandor, Wolfgang H Jost, Andrea A Kühn, Inga Claus, Tobias Warnecke, David J Pedrosa, Carsten Eggers, Claudia Trenkwalder, Joseph Classen, Johannes Schwarz, Alfons Schnitzler, Patricia Krause, Anja Schneider, Moritz Brandt, Björn Falkenburger, Inga Zerr, Mathias Bähr, Endy Weidinger, Johannes Levin, Sabrina Katzdobler, Emrah Düzel, Wenzel Glanz, Stefan Teipel, Ingo Kilimann, Johannes Prudlo, Thomas Gasser, Kathrin Brockmann, Annika Spottke, Anna Esser, Gabor C Petzold, Gesine Respondek, Günter U Höglinger","doi":"10.1002/mdc3.14348","DOIUrl":"https://doi.org/10.1002/mdc3.14348","url":null,"abstract":"<p><strong>Background: </strong>Patients with Progressive Supranuclear Palsy (PSP) suffer from several neuropsychological impairments. These mainly affect the frontal lobe and subcortical brain structures. However, a scale for the assessment of cognitive and neuropsychiatric disability in PSP is still missing.</p><p><strong>Objectives: </strong>To create and validate a new scale for cognitive and neuropsychiatric impairment in PSP.</p><p><strong>Methods: </strong>The Short Cognitive and Neuropsychiatric (ShoCo) scale was developed containing five items (bradyphrenia, apathy, aphasia, dysexecution and disinhibition). Each item can be categorized into 0 = no deficit, 1 = mild deficit, 2 = moderate deficit and 3 = severe deficit. The total score includes 15 points, 0 meaning no deficit and 15 severe deficits. Cross-sectional and longitudinal data from 201 baseline and 71 follow up patients were analyzed.</p><p><strong>Results: </strong>Baseline ShoCo scale results were 5.9 ± 2.9. No significant differences between patients with Richardson syndrome (PSP-RS) and variants (vPSP) could be detected in the PSP-ShoCo scale scores (PSP-RS 6.1 ± 3.0, n = 160, vPSP 5.1 ± 2.6, n = 41, P = 0.057). The scale showed good correlation with established scores (eg, Montreal cognitive assessment r = -0.535, P = 0.001). The ShoCo scale showed significant annualized change within the PSP-RS patients (baseline 6.2 ± 2.9, follow up 6.9 ± 3.1, annualized diff. 1.0 ± 3.1, n = 57, P = 0.022).</p><p><strong>Conclusions: </strong>The ShoCo scale seems a promising and valid tool to measure specific neuropsychological disabilities of PSP patients in clinical routine and research.</p>","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-01-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143046993","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
Short-Term Effects of Continuous Theta Burst Stimulation in Treating a Young Patient Affected by Post-Ischemic Hemidystonia.
IF 2.6 4区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2025-01-25 DOI: 10.1002/mdc3.14349
Valerio Ferrari, Carolina Gabri Nicoletti, Federico Carparelli, Tommaso Schirinzi, Nicola Biagio Mercuri, Alessandro Stefani, Matteo Conti
{"title":"Short-Term Effects of Continuous Theta Burst Stimulation in Treating a Young Patient Affected by Post-Ischemic Hemidystonia.","authors":"Valerio Ferrari, Carolina Gabri Nicoletti, Federico Carparelli, Tommaso Schirinzi, Nicola Biagio Mercuri, Alessandro Stefani, Matteo Conti","doi":"10.1002/mdc3.14349","DOIUrl":"https://doi.org/10.1002/mdc3.14349","url":null,"abstract":"","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-01-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143047058","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
Early Motor Signs in Pathologically Verified Alzheimer's Disease and Lewy Body Disease.
IF 2.6 4区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2025-01-23 DOI: 10.1002/mdc3.14341
Daniel M Oh, Jocelyn M Jiao, Xinhui Wang, Ashim Ahuja, Nenette A Caceres, Kristi A Clark, Helena Chui, John M Ringman

Background: The neuropathologies of Alzheimer's disease (AD) and Lewy body disease (LBD) commonly co-occur. Parkinsonism is the hallmark feature in LBD but it can be difficult to predict the presence of these co-pathologies early in the course of clinical disease. Timely diagnosis has crucial implications, especially with the advent of disease-modifying therapies.

Objectives: We sought to define early motor features that predict the ultimate neuropathological diagnoses of normal, AD, AD with concurrent LB pathology, and pure LB.

Methods: We examined the associations between individuals' early motor features from their initial visit using the Unified Parkinson's Disease Rating Scale (UPDRS) Part III and their neuropathological diagnoses using the U.S. National Alzheimer's Coordinating Center (NACC) Database.

Results: We included data from participants with neuropathologically normal brains (n = 49), AD (n = 502), AD w/LB (n = 167), and pure LB (n = 51). Total UPDRS Part III scores were increasingly higher with purer LB pathology. Decreased facial expression at baseline differentiated those with AD w/LB pathology from those with AD. Participants having pure LB pathology more often had deficits in speech, facial expression, posture, gait, bradykinesia, and upper extremity rigidity relative to those with AD w/LB.

Conclusion: Diminished facial expression significantly predicted the presence of LBs among those with concurrent AD pathology. Worse early speech, facial expression, posture, gait, bradykinesia, and upper extremity rigidity were suggestive of more pure LB pathology. These findings emphasize the utility of the neurological exam in the clinical assessment of persons with cognitive complaints as it can guide management.

{"title":"Early Motor Signs in Pathologically Verified Alzheimer's Disease and Lewy Body Disease.","authors":"Daniel M Oh, Jocelyn M Jiao, Xinhui Wang, Ashim Ahuja, Nenette A Caceres, Kristi A Clark, Helena Chui, John M Ringman","doi":"10.1002/mdc3.14341","DOIUrl":"10.1002/mdc3.14341","url":null,"abstract":"<p><strong>Background: </strong>The neuropathologies of Alzheimer's disease (AD) and Lewy body disease (LBD) commonly co-occur. Parkinsonism is the hallmark feature in LBD but it can be difficult to predict the presence of these co-pathologies early in the course of clinical disease. Timely diagnosis has crucial implications, especially with the advent of disease-modifying therapies.</p><p><strong>Objectives: </strong>We sought to define early motor features that predict the ultimate neuropathological diagnoses of normal, AD, AD with concurrent LB pathology, and pure LB.</p><p><strong>Methods: </strong>We examined the associations between individuals' early motor features from their initial visit using the Unified Parkinson's Disease Rating Scale (UPDRS) Part III and their neuropathological diagnoses using the U.S. National Alzheimer's Coordinating Center (NACC) Database.</p><p><strong>Results: </strong>We included data from participants with neuropathologically normal brains (n = 49), AD (n = 502), AD w/LB (n = 167), and pure LB (n = 51). Total UPDRS Part III scores were increasingly higher with purer LB pathology. Decreased facial expression at baseline differentiated those with AD w/LB pathology from those with AD. Participants having pure LB pathology more often had deficits in speech, facial expression, posture, gait, bradykinesia, and upper extremity rigidity relative to those with AD w/LB.</p><p><strong>Conclusion: </strong>Diminished facial expression significantly predicted the presence of LBs among those with concurrent AD pathology. Worse early speech, facial expression, posture, gait, bradykinesia, and upper extremity rigidity were suggestive of more pure LB pathology. These findings emphasize the utility of the neurological exam in the clinical assessment of persons with cognitive complaints as it can guide management.</p>","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-01-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143024207","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 PARK7 Mutation-Induced Early-Onset Parkinson's Disease in a Moroccan Family: Expanding the Geographic Spectrum.
IF 2.6 4区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2025-01-23 DOI: 10.1002/mdc3.14339
Hicham El Otmani, Christelle Tesson, Alexis Brice, Suzanne Lesage

Background: Parkinson's disease (PD) is a progressive neurodegenerative disorder characterized by motor and nonmotor symptoms, with a significant genetic component. Early-onset Parkinson's disease (EOPD), manifesting before age 45, is often linked to mutations in genes such as PARK2, PINK1, and PARK7, the latter coding for the protein DJ-1.

Objective: We present the first reported cases of EOPD carrying a previously undescribed homozygous PARK7 mutation, p.Thr110Pro.

Methods: Whole exom sequencing was performed on two inbred Moroccan siblings with early-onset Parkinson's disease (EOPD). Detailed clinical assessments, including neurological evaluations and cognitive testing, were conducted to understand the clinical presentation of the patients. Genetic analysis was also carried out to examine their genetic background. Therapeutic responses to treatments were monitored to assess the effectiveness of management strategies.

Results: The sequencing revealed that both siblings carried the homozygous PARK7 mutation, p.Thr110Pro. Both siblings presented with typical EOPD features, including motor and non-motor symptoms. The patients both presented with cognitive impairment, with the male sibling exhibiting more pronounced symptoms. He also developed compulsive behaviors, which underscore the varied clinical presentations and therapeutic responses associated with this genetic variant.

Conclusion: This case study expands the genetic and geographic diversity of PD presentations, highlighting cognitive and behavioral challenges and variable therapeutic outcomes. It underscores the necessity for genetic screening and individualized management strategies for patients with PD.

{"title":"A PARK7 Mutation-Induced Early-Onset Parkinson's Disease in a Moroccan Family: Expanding the Geographic Spectrum.","authors":"Hicham El Otmani, Christelle Tesson, Alexis Brice, Suzanne Lesage","doi":"10.1002/mdc3.14339","DOIUrl":"https://doi.org/10.1002/mdc3.14339","url":null,"abstract":"<p><strong>Background: </strong>Parkinson's disease (PD) is a progressive neurodegenerative disorder characterized by motor and nonmotor symptoms, with a significant genetic component. Early-onset Parkinson's disease (EOPD), manifesting before age 45, is often linked to mutations in genes such as PARK2, PINK1, and PARK7, the latter coding for the protein DJ-1.</p><p><strong>Objective: </strong>We present the first reported cases of EOPD carrying a previously undescribed homozygous PARK7 mutation, p.Thr110Pro.</p><p><strong>Methods: </strong>Whole exom sequencing was performed on two inbred Moroccan siblings with early-onset Parkinson's disease (EOPD). Detailed clinical assessments, including neurological evaluations and cognitive testing, were conducted to understand the clinical presentation of the patients. Genetic analysis was also carried out to examine their genetic background. Therapeutic responses to treatments were monitored to assess the effectiveness of management strategies.</p><p><strong>Results: </strong>The sequencing revealed that both siblings carried the homozygous PARK7 mutation, p.Thr110Pro. Both siblings presented with typical EOPD features, including motor and non-motor symptoms. The patients both presented with cognitive impairment, with the male sibling exhibiting more pronounced symptoms. He also developed compulsive behaviors, which underscore the varied clinical presentations and therapeutic responses associated with this genetic variant.</p><p><strong>Conclusion: </strong>This case study expands the genetic and geographic diversity of PD presentations, highlighting cognitive and behavioral challenges and variable therapeutic outcomes. It underscores the necessity for genetic screening and individualized management strategies for patients with PD.</p>","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-01-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143024204","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
Unraveling Hormonal Influence of Menstrual Cycle in a Young Patient with LRRK2-Parkinson's Disease. 揭示激素对年轻lrrk2 -帕金森病患者月经周期的影响
IF 2.6 4区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2025-01-21 DOI: 10.1002/mdc3.14337
Francisca Ferreira, Carolina Correia, Carolina Soares
{"title":"Unraveling Hormonal Influence of Menstrual Cycle in a Young Patient with LRRK2-Parkinson's Disease.","authors":"Francisca Ferreira, Carolina Correia, Carolina Soares","doi":"10.1002/mdc3.14337","DOIUrl":"https://doi.org/10.1002/mdc3.14337","url":null,"abstract":"","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-01-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143008778","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
Mood Lability Induced by Pallidal Deep Brain Stimulation in a Patient with Meige Syndrome. Meige综合征患者苍白质深部脑刺激所致情绪不稳定。
IF 2.6 4区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2025-01-21 DOI: 10.1002/mdc3.14332
Kai Grimm, Alessandro Gulberti, Wolfgang Hamel, Monika Pötter-Nerger, Carsten Buhmann, Christian K E Moll, Simone Zittel
{"title":"Mood Lability Induced by Pallidal Deep Brain Stimulation in a Patient with Meige Syndrome.","authors":"Kai Grimm, Alessandro Gulberti, Wolfgang Hamel, Monika Pötter-Nerger, Carsten Buhmann, Christian K E Moll, Simone Zittel","doi":"10.1002/mdc3.14332","DOIUrl":"https://doi.org/10.1002/mdc3.14332","url":null,"abstract":"","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-01-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143008028","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
The World's Oldest Description of Oromandibular Dystonia. 世界上最古老的口腔张力障碍描述。
IF 2.6 4区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2025-01-21 DOI: 10.1002/mdc3.14342
Kazuya Yoshida
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引用次数: 0
Rural Environment as a Risk Factor for the Age at Onset of Machado-Joseph Disease. 农村环境是马查多-约瑟夫病发病年龄的一个危险因素。
IF 2.6 4区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2025-01-20 DOI: 10.1002/mdc3.14338
Ana Carolina Martins, Gabriel Vasata Furtado, Jordânia Dos Santos Pinheiro, Maria Luiza Saraiva-Pereira, Laura Bannach Jardim

Background: Machado-Joseph disease (SCA3/MJD) is a neurodegenerative condition caused by a dominant expansion of a CAG repeat (CAGexp). Most of the variability in the age at onset of symptoms (AO) remains unexplained, and environmental influences were scarcely studied.

Objective: The objective was to test if AO of SCA3/MJD carriers can be associated with markers of the rural environment, such as demographic density (DeD), proportion of rural population (PRP), and the consumption of untreated well water (CWW).

Methods: Symptomatic subjects from Rio Grande do Sul, Brazil, diagnosed between 1999 and 2017, and living in the same municipalities where they were born, were included, provided their CAGexp and AO were available, and the residual AO (RAO) could be estimated. DeD, PRP, and CWW were obtained from the Brazilian Census of 2010. Participants were stratified in high versus low DeD, PRP, and CWW groups, and their RAOs were compared for a P < 0.05.

Results: A total of 188 subjects were studied. The mean (SD) RAOs of subjects from low and high DeD groups were -1.90 (6.98) and -0.11 (6.20) (P = 0.046); from low and high PRP groups were -0.12 (6.20) and -1.90 (6.99) (P = 0.046); and from low and high CWW groups were -0.11 (6.04) and -1.89 (7.11) (P = 0.034).

Conclusions: AO of SCA3/MJD carriers was earlier in groups related to rural life. Our evidence suggests the presence of a risk factor in the rural environment, for earlier onset of symptoms in SCA3/MJD.

背景:Machado-Joseph病(SCA3/MJD)是一种由CAG重复序列(CAGexp)显性扩增引起的神经退行性疾病。发病年龄(AO)的大多数变异仍然无法解释,环境影响也很少研究。目的:探讨SCA3/MJD携带者的AO是否与农村环境指标(如人口密度(DeD)、农村人口比例(PRP)和未经处理的井水消费量(CWW))相关。方法:纳入1999年至2017年间诊断为巴西南大德州里约热内卢的有症状的受试者,并在其出生的同一城市生活,前提是他们的CAGexp和AO可获得,并可估计剩余AO (RAO)。DeD、PRP和CWW数据来自巴西2010年人口普查。将受试者分为高、低DeD组、PRP组和CWW组,并比较其RAOs的P值。结果:共研究了188名受试者。低、高DeD组的平均(SD) RAOs分别为-1.90(6.98)、-0.11 (6.20)(P = 0.046);低PRP组和高PRP组分别为-0.12(6.20)和-1.90 (6.99)(P = 0.046);低、高CWW组分别为-0.11(6.04)、-1.89 (7.11)(P = 0.034)。结论:SCA3/MJD携带者在农村生活相关人群中发病时间较早。我们的证据表明,农村环境中存在SCA3/MJD症状早期发作的风险因素。
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Movement Disorders Clinical Practice
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