Lorena Fernández de la Cruz PhD, Kayoko Isomura MD, PhD, Ralf Kuja-Halkola PhD, Paul Lichtenstein PhD, Henrik Larsson PhD, Zheng Chang PhD, Brian M. D'Onofrio PhD, Isabel Brikell PhD, Anna Sidorchuk MD, PhD, David Mataix-Cols PhD
Background
Tourette syndrome (TS) and chronic tic disorder (CTD) may be associated with an increased risk of mortality, but specific causes of death are poorly understood.
Objectives
In this matched cohort and sibling cohort study, we estimated the risk of all-cause and cause-specific mortality in individuals with TS/CTD, compared with unaffected matched individuals and unaffected full siblings.
Methods
We identified all individuals diagnosed with TS/CTD in the Swedish National Patient Register who were living in the country between 1973 and 2020 and matched them (1:10) to individuals without TS/CTD from the general population. We also identified their siblings without TS/CTD. All-cause and cause-specific mortality outcomes, based on the International Classification of Diseases codes, were extracted from the Cause of Death Register. Covariates included sociodemographic variables and psychiatric disorders. Risks of mortality were estimated using Cox proportional hazards regression models.
Results
We included 10,280 individuals with TS/CTD and 102,800 matched individuals without TS/CTD. In adjusted models, individuals with TS/CTD had an 86% increased hazard of all-cause mortality (hazard ratio: 1.86, 95% confidence interval: 1.65–2.11). The increased risk was observed for both natural (particularly nervous, digestive, and respiratory system diseases) and unnatural causes of death (including suicides and accidents). The sibling comparison showed similar results, indicating that the associations were unlikely to be explained by familial confounding.
Kevin Peikert, Adrian Spranger, Gabriel Miltenberger-Miltenyi, Hannes Glaß, Björn Falkenburger, Christian Klose, Donatienne Tyteca, Andreas Hermann
Background: VPS13A disease is an ultra-rare disorder caused by loss of function mutations in VPS13A characterized by striatal degeneration and by red blood cell (RBC) acanthocytosis. VPS13A is a bridge-like protein mediating lipid transfer at membrane contact sites.
Objectives: To assess the lipid composition of patient-derived RBCs.
Methods: RBCs collected from 5 VPS13A disease patients and 12 control subjects were analyzed by mass spectrometry (lipidomics).
Results: While we found no significant differences in the overall lipid class level, alterations in certain species were detected: phosphatidylethanolamine species with both longer chain length and higher unsaturation were increased in VPS13A disease samples. Specific ceramide, phosphatidylcholine, and sphingomyelin species were also altered.
Chih-Hong Lee MD, PhD, Chi-Hung Juan PhD, Hsiang-Han Chen PhD, Jia-Pei Hong MD, MPH, Ting-Wei Liao MD, Isobel French MS, Yen-Shi Lo MSc, Yi-Ru Wang BS, Mei-Ling Cheng PhD, Hsiu-Chuan Wu MD, PhD, Chiung-Mei Chen MD, PhD, Kuo-Hsuan Chang MD, PhD
Background
Patients with Parkinson's disease (PD) present progressive deterioration in both motor and non-motor manifestations. However, the absence of clinical biomarkers for disease progression hinders clinicians from tailoring treatment strategies effectively.
Objectives
To identify electroencephalography (EEG) biomarker that can track disease progression in PD.
Methods
A total of 116 patients with PD were initially enrolled, whereas 63 completed 2-year follow-up evaluation. Fifty-eight age- and sex-matched healthy individuals were recruited as the control group. All participants underwent EEG and clinical assessments. Long-range temporal correlations (LRTC) of EEG data were analyzed using the detrended fluctuation analysis.
Results
Patients with PD exhibited higher LRTC in left parietal θ oscillations (P = 0.0175) and lower LRTC in centro-parietal γ oscillations (P = 0.0258) compared to controls. LRTC in parietal γ oscillations inversely correlated with changes in Unified Parkinson's Disease Rating Scale (UPDRS) part III scores over 2 years (Spearman ρ = −0.34, P = 0.0082). Increased LRTC in left parietal θ oscillations were associated with rapid motor progression (P = 0.0107), defined as an annual increase in UPDRS part III score ≥3. In cognitive assessments, LRTC in parieto-occipital α oscillations exhibited a positive correlation with changes in Mini-Mental State Examination and Montreal Cognitive Assessment scores over 2 years (Spearman ρ = 0.27–0.38, P = 0.0037–0.0452).
Cook, SR, Schwarz, C, Guevar, J, et al. Canine RNF170 single base deletion in a naturally occurring model for human neuroaxonal dystrophy. Mov Disord2024; 39(11): 2049–2057. https://doi.org/10.1002/mds.29977 .
In the above article, the affiliation for Leonardo Murgiano was incorrectly listed as “Department of Clinical Sciences and Advanced Medicine, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.”
The correct affiliation for Leonardo Murgiano is “Sylvia M. Van Sloun Laboratory for Canine Genomic Analysis, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.”
We apologize for this error.
{"title":"Correction to “Canine RNF170 Single Base Deletion in a Naturally Occurring Model for Human Neuroaxonal Dystrophy”","authors":"","doi":"10.1002/mds.30079","DOIUrl":"10.1002/mds.30079","url":null,"abstract":"<p>\u0000 <span>Cook, SR</span>, <span>Schwarz, C</span>, <span>Guevar, J</span>, et al. <span>Canine <i>RNF170</i> single base deletion in a naturally occurring model for human neuroaxonal dystrophy</span>. <i>Mov Disord</i> <span>2024</span>; <span>39</span>(<span>11</span>): <span>2049</span>–<span>2057</span>. https://doi.org/10.1002/mds.29977\u0000 .</p><p>In the above article, the affiliation for Leonardo Murgiano was incorrectly listed as “Department of Clinical Sciences and Advanced Medicine, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.”</p><p>The correct affiliation for Leonardo Murgiano is “Sylvia M. Van Sloun Laboratory for Canine Genomic Analysis, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.”</p><p>We apologize for this error.</p>","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"40 2","pages":"393"},"PeriodicalIF":7.4,"publicationDate":"2024-12-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/mds.30079","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142793988","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Zhongbo Chen MRCP, PhD, Pilar Alvarez Jerez MSc, Claire Anderson PhD, Martin Paucar MD, PhD, Jasmaine Lee MSc, Daniel Nilsson PhD, Hannah Macpherson MSc, Annarita Scardamaglia BSc, Kylie Montgomery BSc, John Hardy FMedSci, PhD, Andrew B. Singleton PhD, Arianna Tucci MD, PhD, Katherine D. Mathews MD, PhD, Ying-Hui Fu PhD, Martin Engvall MD, PhD, José Laffita-Mesa MD, PhD, Inger Nennesmo MD, PhD, Anna Wedell MD, PhD, Louis J. Ptáček MD, PhD, Cornelis Blauwendraat PhD, Emil K. Gustavsson PhD, Per Svenningsson MD, PhD, Mina Ryten MD, PhD, Henry Houlden MD, PhD
Background
The identification of a heterozygous exonic GGC repeat expansion in ZFHX3 underlying spinocerebellar ataxia type 4 (SCA4) has solved a 25-year diagnostic conundrum. We used adaptive long-read sequencing to decipher the pathogenic expansion in the index Utah family and an unrelated family from Iowa of Swedish ancestry. Contemporaneous to our discovery, other groups identified the same repeat expansion in affected individuals from Utah, Sweden, and Germany, highlighting the current pivotal time for detection of novel repeat expansion disorders.
Methods
Given that the pathogenic repeat expansion is rare on a population level, we proposed a common ancestor across all families. Here, we employed targeted long-read sequencing through adaptive sampling, enriching for the chr16q22 region of interest.
Results
Using phased sequencing results from individuals from Utah, Iowa, and Southern Sweden, we confirmed a common ~2000-year-old ancestral haplotype harbouring the repeat expansion.
Ota Gal PhD, Marjolaine Baude MD, Thierry Deltombe MD, Alberto Esquenazi MD, FAAPMR, Jean-Michel Gracies MD, PhD, Martina Hoskovcova MD, PhD, Carmen Rodriguez-Blazquez PhD, Raymond Rosales MD, PhD, Lalith Satkunam MBBS, FRCPC, Jörg Wissel MD, FRCP, Tiago Mestre MD, PhD, Álvaro Sánchez-Ferro MD, PhD, Matej Skorvanek MD, PhD, Michelle Hyczy de Siqueira Tosin MHS, PhD, Robert Jech MD, PhD, the members of the MDS Clinical Outcome Assessments Scientific Evaluation Committee and MDS Spasticity Study group
Background
Spasticity is a common feature in patients with disruptions in corticospinal pathways. However, the term is used ambiguously. Here, spasticity is defined as enhanced velocity-dependent stretch reflexes and placed within the context of deforming spastic paresis encompassing other forms of muscle overactivity.
Objective
This scoping review aims at evaluating the clinimetric quality of clinical outcome assessments (COAs) for spasticity across different pathologies and to make recommendations for their use.
Methods
A literature search was conducted to identify COAs used to assess spasticity. An international expert panel evaluated the measurement properties in the included COAs. Recommendations were based on the MDS-COA program methodology based on three criteria: if the COA was (1) applied to patients with spastic paresis, (2) used by others beyond the developers, and (3) determined to be reliable, valid, and sensitive to change in patients with spasticity.
Results
We identified 72 COAs of which 17 clinician-reported outcomes (ClinROs) and 6 patient-reported outcomes (PROs) were reviewed. The Tardieu Scale was the only ClinRO recommended for assessing spasticity. One ClinRO—Composite Spasticity Index—and two PROs—Spasticity 0–10 Numeric Rating Scale and 88-Item Multiple Sclerosis Spasticity Scale—were recommended with caveats. The Ashworth-derived COAs were excluded after evaluation due to their focus on muscle tone rather than spasticity, as defined in this review.
David G. Standaert MD, PhD, Karl D. Kieburtz MD, MPH
<p>On May 12, 2024, our community lost a tireless champion of innovation for patients and families with movement disorders. Ira Shoulson, MD, was a source of inspiration, hope, and solace for clinicians, investigators, study participants, colleagues, and, always, his patients.</p><p>Ira's training, after an undergraduate degree at the University of Pennsylvania, began at the University of Rochester School of Medicine & Dentistry, where he fell under the influence of George Engel, MD, an internist/psychiatrist and the father of the biopsychosocial model of medicine, a patient-centered approach that considers psychological and social as well as biological factors as contributors to health. Dr. Engel was renowned for his perceptive and revealing interviewing skills, and Ira carried that ability throughout his career. After 2 years of internal medicine training in Rochester, he spent 2 years at the NIH, primarily with Tom Chase, MD (a pioneer in the neuropharmacology of Parkinson's disease), and then another 2 years back in Rochester as a neurology resident, followed by a year as chief resident in both medicine and neurology. He then introduced the Movement Disorders program at Rochester under the acronym (he had a penchant for them) the MIND (Movement and Inherited Neurological Disorders) Unit. His first recruit to help in caring for outpatients was a registered nurse, a first for the institution. The hospital restrictions confined her official duties to obtaining weights and blood pressures, values Ira prized above all other data save the history. We never observed Ira engage with a patient, whether in the clinic or hospital, without a warm, direct handshake, a set of postural blood pressures, and an assessment of weight. After that, the engaging conversation began, always in an unhurried and illuminating fashion. Ira used to joke that early on the nurse was allowed to take only blood pressures and weights, and once he was a professor that was all anyone let him do.</p><p>Ira was a relentless innovator. In 1987 he was awarded the first NINDS grant for a multicenter, randomized controlled trial of putative neuroprotective agents in Parkinson's disease: deprenyl (now called selegiline) and tocopherol (vitamin E), a project that became the DATATOP study. To facilitate the work he founded a nonprofit, academic collaboration, the Parkinson Study Group (PSG), whose core tenets were the free and unrestricted right to publish (facilitated by holding the database), democratic governance, and disclosure of conflicts of interest (a novel idea for the time). DATATOP and the PSG became engines for progress in Parkinson's disease. In the course of the design and execution of the trial, the PSG developed the methods, rating scales, and outcome measures that continue to drive the field today. The PSG also built a novel culture of inclusion among investigators and coordinators in Parkinson research studies; research coordinators were always included in both the
{"title":"Ira Shoulson, MD (1946–2024)","authors":"David G. Standaert MD, PhD, Karl D. Kieburtz MD, MPH","doi":"10.1002/mds.30078","DOIUrl":"10.1002/mds.30078","url":null,"abstract":"<p>On May 12, 2024, our community lost a tireless champion of innovation for patients and families with movement disorders. Ira Shoulson, MD, was a source of inspiration, hope, and solace for clinicians, investigators, study participants, colleagues, and, always, his patients.</p><p>Ira's training, after an undergraduate degree at the University of Pennsylvania, began at the University of Rochester School of Medicine & Dentistry, where he fell under the influence of George Engel, MD, an internist/psychiatrist and the father of the biopsychosocial model of medicine, a patient-centered approach that considers psychological and social as well as biological factors as contributors to health. Dr. Engel was renowned for his perceptive and revealing interviewing skills, and Ira carried that ability throughout his career. After 2 years of internal medicine training in Rochester, he spent 2 years at the NIH, primarily with Tom Chase, MD (a pioneer in the neuropharmacology of Parkinson's disease), and then another 2 years back in Rochester as a neurology resident, followed by a year as chief resident in both medicine and neurology. He then introduced the Movement Disorders program at Rochester under the acronym (he had a penchant for them) the MIND (Movement and Inherited Neurological Disorders) Unit. His first recruit to help in caring for outpatients was a registered nurse, a first for the institution. The hospital restrictions confined her official duties to obtaining weights and blood pressures, values Ira prized above all other data save the history. We never observed Ira engage with a patient, whether in the clinic or hospital, without a warm, direct handshake, a set of postural blood pressures, and an assessment of weight. After that, the engaging conversation began, always in an unhurried and illuminating fashion. Ira used to joke that early on the nurse was allowed to take only blood pressures and weights, and once he was a professor that was all anyone let him do.</p><p>Ira was a relentless innovator. In 1987 he was awarded the first NINDS grant for a multicenter, randomized controlled trial of putative neuroprotective agents in Parkinson's disease: deprenyl (now called selegiline) and tocopherol (vitamin E), a project that became the DATATOP study. To facilitate the work he founded a nonprofit, academic collaboration, the Parkinson Study Group (PSG), whose core tenets were the free and unrestricted right to publish (facilitated by holding the database), democratic governance, and disclosure of conflicts of interest (a novel idea for the time). DATATOP and the PSG became engines for progress in Parkinson's disease. In the course of the design and execution of the trial, the PSG developed the methods, rating scales, and outcome measures that continue to drive the field today. The PSG also built a novel culture of inclusion among investigators and coordinators in Parkinson research studies; research coordinators were always included in both the","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"40 1","pages":"3-4"},"PeriodicalIF":7.4,"publicationDate":"2024-12-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/mds.30078","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142764880","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Stephanie Cernera PhD, Carina R. Oehrn MD, PhD, Lauren H. Hammer MD, PhD, Maria Shcherbakova BS, Jiaang Yao MS, Amelia Hahn BS, Sarah Wang PhD, Jill L. Ostrem MD, Simon Little MBBS, PhD, Philip A. Starr MD, PhD
Background
Adaptive deep brain stimulation (aDBS) dynamically adjusts stimulation parameters according to patient needs. We recently showed that chronic aDBS utilizing invasive neural signals for feedback control is superior to conventional DBS (cDBS) during normal daily life in a 2-month trial. The stability of aDBS over longer periods remains unclear.
Objectives
To assess the effects of aDBS on motor symptoms and quality of life (QoL) in one individual with Parkinson's disease over 8 months.
Methods
We used stimulation-entrained cortical gamma oscillations as a control signal for aDBS in the subthalamic nucleus and quantified benefits using motor diary ratings, QoL scales, and wearable metrics.
Results
We found that aDBS delivered superior and consistent benefits compared with baseline cDBS in measures of bradykinesia and QoL.
Samuel M. Goldman MD, MPH, Frances M. Weaver PhD, Lishan Cao MS, Beverly Gonzalez PhD, Kevin T. Stroupe PhD, Kalea Colletta DO, Shamil Jugnundan MD, MPH, Ethan G. Brown MD, Caroline M. Tanner MD, PhD
Background
Electronic medical record (EMR)–based studies hold great potential for epidemiologic investigations of Parkinson's disease (PD) causal factors and phenomenology, but diagnostic misclassification may obscure or bias inferences.
Objectives
The aims were to determine the validity of PD diagnostic codes in the Veterans Administration (VA) national electronic medical databases and develop recommendations for maximizing ascertainment accuracy.
Methods
We investigated a cohort of 146,776 veterans who utilized VA healthcare between 1999 and 2021. We reviewed the medical records of individuals with a PD International Classification of Diseases (ICD) code in outpatient, inpatient, or community care encounters to assign a gold-standard diagnosis. We determined diagnostic accuracy based on provider type, coding frequency, medications, and potentially exclusionary ICD codes overall and by race.
Results
A total of 377 of 810 (46.5%) with a PD ICD code had PD. Veterans whose PD was coded by a PD-specialist neurologist were most likely to have PD (83.6%), but sensitivity was low (15.0%). Diagnostic accuracy decreased for PD coded by any neurologist (66.9%), but sensitivity improved (69.4%). Requiring two or more PD codes in combination with two or more levodopa prescriptions improved accuracy, particularly among nonneurologists. Neuroleptic-induced parkinsonism was the most frequent diagnosis in those without PD (15.6%). Accuracy was lower in Black (29.0%) than White (50.5%) veterans regardless of provider type (miscoding odds ratio 2.5, 95% confidence interval 1.7–3.6).
扫码关注我们
求助内容：
应助结果提醒方式：
京公网安备 11010802042870号