Article
Clinical Neurology
Belen Perez-Duenas, Kathleen Gorman, Anna Marce-Grau, Juan D. Ortigoza-Escobar, Alfons Macaya, Federica R. Danti, Katy Barwick, Apostolos Papandreou, Joanne Ng, Esther Meyer, Shekeeb S. Mohammad, Martin Smith, Francesco Muntoni, Pinki Munot, Johanna Uusimaa, Paivi Vieira, Eammon Sheridan, Renzo Guerrini, Jan Cobben, Sanem Yilmaz, Elisa De Grandis, Russell C. Dale, Roser Pons, Kathryn J. Peall, Vincenzo Leuzzi, Manju A. Kurian
Summary: This study delineates the genetic landscape and key clinical characteristics of complex, early-onset, monogenic hyperkinetic movement disorders, highlighting the importance of comprehensive analysis in guiding physicians for genetic investigation, early diagnosis, precision treatment, and genetic counseling.
MOVEMENT DISORDERS
(2022)
Review
Biochemistry & Molecular Biology
Alexander N. Rodichkin, Tomas R. Guilarte
Summary: Clinical reports on childhood-onset manganese-induced dystonia-parkinsonism have provided valuable insights, but our understanding of the underlying neuropathophysiology remains limited. The availability of Slc39a14 knockout animal models offers a powerful platform for further research into the neurological effects of elevated manganese concentrations.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Clinical Neurology
Filippo Manti, Mario Mastrangelo, Roberta Battini, Claudia Carducci, Carlotta Spagnoli, Carlo Fusco, Manuela Tolve, Carla Carducci, Vincenzo Leuzzi
Summary: Patients with AADCD exhibit intellectual disability and psychiatric disorders, along with movement disorders such as parkinsonism-dystonia, dysarthria, and oculogyric crises. CSF levels of 5-HIAA and HVA at diagnosis significantly impact adaptive behavior and executive function performance. Homozygous DDC pathogenetic variants are associated with lower CSF levels and higher Parkinson's disease rating scale scores.
PARKINSONISM & RELATED DISORDERS
(2022)
Article
Clinical Neurology
Grace A. Bailey, Anna Rawlings, Fatemeh Torabi, William Owen Pickrell, Kathryn J. Peall
Summary: This study reveals a higher rate of psychiatric diagnoses and prescriptions in individuals diagnosed with idiopathic dystonia compared to controls. There may be a bidirectional relationship between idiopathic dystonia and psychiatric disorders, particularly mood disorders.
EUROPEAN JOURNAL OF NEUROLOGY
(2022)
Review
Genetics & Heredity
Mario Mastrangelo, Manuela Tolve, Cristiana Artiola, Rossella Bove, Claudia Carducci, Carla Carducci, Antonio Angeloni, Francesco Pisani, Vincenzo Leuzzi
Summary: Inherited disorders of biogenic amine metabolism are genetically determined conditions that result in dysfunctions or lack of enzymes involved in the synthesis, degradation, or transport of certain neurotransmitters. They present as a group of treatable diseases characterized by complex movement disorders, developmental delay, and autonomic dysregulation. Diagnosis relies on measuring neurotransmitter metabolites in cerebrospinal fluid, and traditional pharmacological strategies are not effective in modifying the disease. Gene therapy has shown promising results in certain types of these disorders. However, the rarity of these diseases and limited knowledge often lead to misdiagnosis or diagnostic delays.
Review
Clinical Neurology
Mu -Hui Fu, Yung -Yee Chang
Summary: Genetic leukoencephalopathies (GLEs) are a group of white matter abnormalities with heterogeneous features. While primarily described in children, cases in adults are increasingly recognized. This review focuses on adult-onset GLEs with movement disorders and provides a step-by-step diagnostic approach, emphasizing the clinical and radiological clues to each disease and discussing the future application of artificial intelligence.
JOURNAL OF MOVEMENT DISORDERS
(2023)
Article
Geriatrics & Gerontology
Lihua Yu, Guoping Peng, Yuan Yuan, Min Tang, Ping Liu, Xiaoyan Liu, Jie Ni, Yi Li, Caihong Ji, Ziqi Fan, Wenli Zhu, Benyan Luo, Qing Ke
Summary: This study summarized the gene mutation spectrum of ATP1A3 associated with RDP and explored the correlation between ATP1A3 variants and RDP clinical phenotypes. The study found specific mutation hotspots in ATP1A3, common delays in diagnosis, and potential effective treatments.
FRONTIERS IN AGING NEUROSCIENCE
(2022)
Article
Clinical Neurology
Shohei Nomura, Mitsuru Kashiwagi, Takuya Tanabe, Chizu Oba, Kumiko Yanagi, Tadashi Kaname, Nobuhiko Okamoto, Akira Ashida
Summary: This study reports a case of rapid-onset dystonia-parkinsonism (RDP) in a female patient at a young age. The patient developed abrupt onset upper limb dystonia and bradykinesia at age 9, followed by other symptoms, and a de novo missense variant in the ATP1A3 gene was identified through whole-exome sequencing.
BRAIN & DEVELOPMENT
(2021)
Article
Clinical Neurology
V Montano, D. Orsucci, V Carelli, C. La Morgia, M. L. Valentino, C. Lamperti, S. Marchet, O. Musumeci, A. Toscano, G. Primiano, F. M. Santorelli, C. Ticci, M. Filosto, A. Rubegni, T. Mongini, P. Tonin, S. Servidei, R. Ceravolo, G. Siciliano, Michelangelo Mancuso
Summary: The study reviewed the prevalence and clinical features of movement disorders in adults with primary mitochondrial diseases of the Italian Collaborative Network of Mitochondrial Diseases. It emphasizes the importance of considering a mitochondrial etiology in the diagnostic flowchart of a movement disorder.
JOURNAL OF NEUROLOGY
(2022)
Review
Clinical Neurology
Martje E. van Egmond, Tjerk J. Lagrand, Gintaute Lizaitiene, Marenka Smit, Marina A. J. Tijssen
Summary: Adult-onset dystonia can be acquired, inherited or idiopathic. Recent advances in neuroimmunology and genetic diagnostics have increased our understanding of the disease. To ensure early diagnosis and prevent unnecessary investigations, a new five-step diagnostic approach has been designed. The approach focuses on early identification of treatable forms of dystonia, both acquired and genetic. This novel diagnostic method can aid clinicians in deciding when to perform additional tests, including genetic testing, and facilitate timely treatment.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
(2022)
Letter
Clinical Neurology
Somadatta Ray, Hansashree Padmanabha, Rohan Mahale, Gautham Arunachal
Summary: This case report describes a novel phenotype caused by a homozygous missense mutation in the DNAJC6 gene, presenting as a combination of dystonia and parkinsonism symptoms in an adolescent girl.
PARKINSONISM & RELATED DISORDERS
(2021)
Article
Clinical Neurology
Christopher T. Whitlow, Kyle M. Atcheson, Beverly M. Snively, Jared F. Cook, Jeongchul Kim, Ihtsham U. Haq, Kathleen J. Sweadner, Laurie J. Ozelius, Allison Brashear
Summary: The purpose of this study was to determine whether there are differences between patients with rapid-onset dystonia-parkinsonism (RDP) and variant-negative controls in brain areas that mediate motor function using magnetic resonance imaging (MRI) methodologies. The results showed decreased cerebral blood flow in the thalamus of patients with ATP1A3 variants compared to the control group. However, there were no significant differences in gray matter volume between the two groups. This suggests that ATP1A3 variants may lead to reduced cerebral blood flow in the thalamus, indicating a functional rather than a structural abnormality.
FRONTIERS IN NEUROLOGY
(2023)
Article
Clinical Neurology
Joanne Trinh, Theresa Luth, Susen Schaake, Bjorn-Hergen Laabs, Kathleen Schlueter, Joshua Lass, Jelena Pozojevic, Ronnie Tse, Inke Koenig, Roland Dominic Jamora, Raymond L. Rosales, Norbert Brueggemann, Gerard Saranza, Cid Czarina E. Diesta, Frank J. Kaiser, Christel Depienne, Christopher E. Pearson, Ana Westenberger, Christine Klein
Summary: By sequencing the genomes of XDP patients, researchers have discovered various mutations within the repetitive sequence SINE-VNTR-Alu(AGAGGG)(n), which may act as modifiers of disease expression in XDP.
Review
Clinical Neurology
Hugo Morales-Briceno, Victor S. C. Fung, Kailash P. Bhatia, Bettina Balint
Summary: The article discusses the clinical spectrum of dystonia-parkinsonism disorders and emphasizes the importance of diagnostic factors such as age at onset, associated symptoms, and neuroimaging. Diagnostic approaches may include dopamine transporter imaging, CSF analysis, and genetic testing. Recent advances in molecular genetics have helped unravel the underlying causes, especially in younger patients.
JOURNAL OF THE NEUROLOGICAL SCIENCES
(2022)
Article
Clinical Neurology
Bettina Balint, Eoin Mulroy, Felix Goevert, Anna Latorre, Giulia Di Lazarro, Roberto Erro, Amit Batla, Janice L. Holton, Yasuo Miki, Thomas T. Warner, Kailash P. Bhatia
Summary: This study describes a group of patients in whom typical idiopathic late-onset focal or segmental dystonia preceded the development of parkinsonism by several years, sometimes decades. Parkinsonism typically manifested with new tremors, slowing down, or walking difficulties.
JOURNAL OF THE NEUROLOGICAL SCIENCES
(2021)
Article
Geriatrics & Gerontology
Sarah H. Lisanby, Shawn M. McClintock, William McCall, Rebecca G. Knapp, C. Munro Cullum, Martina Mueller, Zhi-De Deng, Abeba A. Teklehaimanot, Matthew Rudorfer, Elisabeth Bernhardt, George Alexopoulos, Samuel H. Bailine, Mimi C. Briggs, Emma T. Geduldig, Robert M. Greenberg, Mustafa M. Husain, Styliani Kaliora, Vassilios Latoussakis, Lauren S. Liebman, Georgios Petrides, Joan Prudic, Peter B. Rosenquist, Shirlene Sampson, Kristen G. Tobias, Richard D. Weiner, Robert C. Young, Charles H. Kellner
Summary: After a 6-month course of RUL-UB ECT in older adults with major depressive disorder, there were no significant differences in neurocognitive outcomes between the STABLE plus pharmacotherapy group and the pharmacotherapy-only group. These findings support the safety of combining RUL-UB ECT with pharmacotherapy in prolonging remission in late-life depression.
AMERICAN JOURNAL OF GERIATRIC PSYCHIATRY
(2022)
Article
Clinical Neurology
Alexandria Muench, Joshua Giller, Knashawn H. Morales, Elizabeth Culnan, Waliuddin Khader, Ted J. Kaptchuk, William McCall, Michael L. Perlis
Summary: This meta-analysis examined the effects of placebos on objective and subjective measures of sleep continuity. The results showed that placebos had similar effects on both measures, indicating that objective measures could not protect against placebo responses. Therefore, prospectively sampled subjective data (sleep diaries) may be the optimal choice for clinical trials.
BEHAVIORAL SLEEP MEDICINE
(2023)
Article
Geriatrics & Gerontology
Yanyan Xu, Xiaoling Wang, Daniel W. Belsky, William McCall, Yutao Liu, Shaoyong Su
Summary: The impaired rest-activity circadian rhythm is associated with accelerated aging, suggesting that enhancing circadian rhythm may be a novel approach for extending a healthy lifespan.
JOURNALS OF GERONTOLOGY SERIES A-BIOLOGICAL SCIENCES AND MEDICAL SCIENCES
(2023)
Article
Psychology, Multidisciplinary
William McCall, Lucas T. Ribbens, Stephen W. Looney
Summary: Insomnia is associated with suicide and cognitive problems, but this study found that slower psychomotor speed and set shifting have significant associations with suicidal ideation, while the contribution of insomnia is negligible.
SCANDINAVIAN JOURNAL OF PSYCHOLOGY
(2023)
Editorial Material
Behavioral Sciences
William V. McCall
Article
Psychiatry
Brian J. Miller, Joseph P. McEvoy, William V. McCall
Summary: This meta-analysis found that patients treated with other antipsychotics had a higher risk of insomnia compared to those treated with clozapine. These findings provide important evidence for the anti-suicidal properties of clozapine and its potential role in improving sleep.
SCHIZOPHRENIA RESEARCH
(2023)
Article
Multidisciplinary Sciences
Yanyan Xu, Shaoyong Su, Xinyue Li, Asifhusen Mansuri, William V. McCall, Xiaoling Wang
Summary: This study aimed to investigate the predictive ability of rest-activity circadian rhythm parameters on all-cause, cardiovascular disease, and cancer mortality in a general adult population of the US, and compare their performance with traditional risk factors. The results showed that higher relative amplitudes were associated with lower mortality risks, and the predictive ability of relative amplitude surpassed that of traditional predictors. These findings suggest that blunted rest-activity circadian rhythms may increase the risk of all-cause, cardiovascular disease, and cancer mortality.
SCIENTIFIC REPORTS
(2022)
Article
Physiology
William V. V. McCall, Jessica T. T. Dinsmore, Alicia Brown, Lucas T. T. Ribbens, Peter B. B. Rosenquist, Laryssa McCloud, Brian J. J. Miller
Summary: The pupillary light reflex (PLR) is a method for measuring autonomic nervous system responses. Valid and reproducible PLR data can be obtained in a short period of time after 10 or 15 minutes of dark adaptation in depressed and suicidal patients.
CLINICAL PHYSIOLOGY AND FUNCTIONAL IMAGING
(2023)
Article
Health Care Sciences & Services
Brian Witrick, Donglan Zhang, Dejun Su, Yan Li, William V. V. McCall, Brian Hendricks, Lu Shi
Summary: This study estimated the medical expenditures associated with ADHD among US adults and found that the average medical expenses for adults with ADHD were higher, especially among those aged 31 and above. The findings highlight the importance of understanding the increasing trend in ADHD-related costs.
JOURNAL OF GENERAL INTERNAL MEDICINE
(2023)
Article
Psychiatry
Nolan Ayers, William McCall, Brian J. Miller
Summary: The article "Sleep Problems, Suicidal Ideation, and Psychopathology in First-Episode Psychosis" examines the association between sleep problems, suicidal ideation, and psychopathology in patients with first-episode psychosis. The study found a positive correlation between sleep problems and suicidal ideation, as well as a correlation with higher levels of psychopathology. Therefore, formal assessment and treatment of sleep problems are crucial for the clinical care of patients with psychosis as it predicts suicidal ideation and symptom severity.
SCHIZOPHRENIA BULLETIN
(2023)
Review
Medicine, General & Internal
Nathaniel F. F. Watson, Ruth M. M. Benca, Andrew D. D. Krystal, William V. V. McCall, David N. N. Neubauer
Summary: Determining the most effective insomnia medication may require trials of different medications, considering side effects, interactions, and declining efficacy. Guidelines were developed to inform clinicians on best practices for deprescribing or transitioning between insomnia medications. Tapering and additional CBT-I are recommended for benzodiazepine hypnotic drugs, while Z-drugs and off-label antidepressants should be gradually reduced during discontinuation.
JOURNAL OF CLINICAL MEDICINE
(2023)
Review
Pharmacology & Pharmacy
Zhixing Yao, William V. McCall
Summary: Suicide is a significant public health concern, but the availability of randomized controlled trials (RCTs) informing pharmacologic treatment is limited. This review highlights the need for such trials and discusses examples of trials studying patients at elevated risk of suicide. Existing studies on psychotropic medications and psychotherapy interventions provide valuable insights for trial design. Medications studied in individuals at risk for suicide include lithium, clozapine, zolpidem, prazosin, ketamine, esketamine, and aripiprazole. Although there are design challenges, RCTs investigating suicide prevention are feasible and much needed.
PHARMACEUTICAL MEDICINE
(2023)
Review
Clinical Neurology
Hunter Spivey, Amal Asiri, Matthew M. M. Kridel, Thashi Uppalapati, Dale Peeples, William V. V. McCall
Summary: The purpose of this review is to investigate the connection between suicidal ideation and behavior with insomnia and discuss how treating insomnia may reduce the risk of suicide. Recent studies show that different age groups have different presentations, but increasing insomnia severity increases the risk of suicide for all groups.
CURRENT SLEEP MEDICINE REPORTS
(2023)
Review
Psychiatry
Brian J. Miller, William V. McCall
Summary: This review performs a meta-analysis to examine the associations between insomnia, suicide, and psychopathology in patients with schizophrenia. The findings show that insomnia is associated with increased risk of suicidal ideation, suicide attempt or death, and greater severity of psychopathology. Hence, formal assessment and treatment of insomnia are relevant to the clinical care of schizophrenia.
CURRENT OPINION IN PSYCHIATRY
(2023)
Article
Law
Ana S. Iltis, Reese Fortier, Noah Ontjes, William V. McCall
Summary: Electroconvulsive therapy (ECT) is a safe and effective treatment used for various psychiatric conditions. Some patients lack decision-making capacity and case reports indicate positive outcomes and high patient satisfaction. Laws and regulations pertaining to ECT vary worldwide and over-regulation in the United States should be re-evaluated.
JOURNAL OF THE AMERICAN ACADEMY OF PSYCHIATRY AND THE LAW
(2023)