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
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
Medicine, General & Internal
Rui Shimazaki, Jun Ikezawa, Ryoichi Okiyama, Kenko Azuma, Hiroyuki Akagawa, Kazushi Takahashi
Summary: We report a case of adult-onset DYT28 with dystonic tremor, diagnosed based on genetic testing revealing a mutation in KMT2B. Adult-onset patients with DYT28 may also exhibit uncommon symptoms similar to DYT-TOR1A (DYT1).
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
Wen Wei, Xiu-fen Zheng, Dan-dan Ruan, Yu-mian Gan, Yan-ping Zhang, Ying Chen, Xin-fu Lin, Fa-qiang Tang, Jie-wei Luo, Yun-fei Li
Summary: The study found that the mother of a patient with AHC was later diagnosed with RDP. The biochemical and immune indices of the patient and the mother were normal, but the mother's EEG and MRI showed abnormalities. Genetic sequencing results showed that the patient and the mother carried the same mutation, while other family members did not.
NEUROLOGICAL SCIENCES
(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
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)
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)
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
Pharmacology & Pharmacy
Kenneth Frederick, Rekha C. Patel
Summary: DYT-PRKRA is a movement disorder caused by mutations in the PRKRA gene, resulting in dysregulation of the integrated stress response (ISR). Our research has shown that the PRKRA mutations lead to enhanced PACT-PKR interactions, disrupting the normal pro-survival ISR and increasing sensitivity to apoptosis. We have identified luteolin as a potential therapeutic option for treating DYT-PRKRA by disrupting the pathological PACT-PKR interactions.
FRONTIERS IN PHARMACOLOGY
(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
Neurosciences
Yuhang Fan, Zhibo Si, Linlin Wang, Lei Zhang
Summary: DYT-TOR1A dystonia is a neurological disorder characterized by involuntary muscle contractions and abnormal movements caused by mutations in the TOR1A gene. The pathophysiology involves abnormal protein folding, signaling between neurons and glial cells, and dysfunction of the protein quality control system. Research advances provide insight into the disease's pathogenesis, leading to potential therapeutic and preventative strategies.
FRONTIERS IN NEUROSCIENCE
(2023)
Article
Biochemistry & Molecular Biology
Lauren S. Vaughn, Kenneth Frederick, Samuel B. Burnett, Nutan Sharma, D. Cristopher Bragg, Sarah Camargos, Francisco Cardoso, Rekha C. Patel
Summary: This study evaluates the functional role of the most prevalent mutation in DYT-PRKRA patients and finds that it enhances PACT's ability to induce IFN beta. These results provide a new avenue for investigating the underlying molecular mechanisms in DYT-PRKRA.
Article
Cell Biology
Kimberley Reid, Dora Steel, Sanjana Nair, Sanjay Bhate, Lorenzo Biassoni, Sniya Sudhakar, Michelle Heys, Elizabeth Burke, Erik-Jan Kamsteeg, Biju E. Hameed, Michael Zech, Niccolo Mencacci, Katy A. Barwick, Maya Topf, Manju Kurian
Summary: In this study, a patient with severe infantile parkinsonism-dystonia was reported, exhibiting clinical features of dopamine deficiency. Whole-genome sequencing identified a homozygous variant in the DRD1 gene, resulting in loss of function of the D-1 receptor. The findings highlight the crucial role of the D-1 receptor in motor control.
Article
Endocrinology & Metabolism
Yanyan Xu, Shaoyong Su, William McCall, Carlos Isales, Harold Snieder, Xiaoling Wang
Summary: Circadian rhythm disturbance is significantly associated with impaired glucose homeostasis in a general population of adults without diabetes, suggesting that circadian dysfunction may contribute to early disease pathogenesis. The study analyzed data from 2760 adults without diabetes from the NHANES 2011-2014, showing that increased circadian rhythmicity was associated with lower 2-hour glucose levels and decreased odds of IGT, while increased rhythm fragmentation was associated with higher 2-hour glucose levels and increased odds of IGT.
BMJ OPEN DIABETES RESEARCH & CARE
(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
Clinical Neurology
Brittany Liebenow, Angela Jiang, Emily DiMarco, Thomas Wilson, Mustafa S. Siddiqui, Ihtsham ul Haq, Adrian W. Laxton, Stephen B. Tatter, Kenneth T. Kishida
Summary: This study aimed to investigate the differences in subsecond dopamine fluctuations in individuals with and without alcohol use disorder (AUD) when exposed to counterfactual information. The findings revealed significant differences in emotional release between patients with and without AUD. Although limited by a small sample size, these data provide valuable insights into the dopaminergic physiology of addiction disorder patients during real-time decision-making.
NEUROSURGICAL FOCUS
(2023)
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
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)