Article
Health Care Sciences & Services
Sabrina Maffi, Eugenia Scaricamazza, Simone Migliore, Melissa Casella, Consuelo Ceccarelli, Ferdinando Squitieri
Summary: This study investigated the correlations between sleep features and motor, cognitive, behavioral, and functional changes in individuals with Huntington's disease (HD). The results showed a significant association between sleep abnormalities and the severity of disease progression, as well as impaired independence, cognitive performance, and motor functions. Sleep abnormalities are an important aspect of the clinical profile of HD and can greatly impact patients' quality of life.
JOURNAL OF PERSONALIZED MEDICINE
(2022)
Article
Biochemistry & Molecular Biology
Marina G. Yefimova, Emile Bere, Anne Cantereau-Becq, Annie-Claire Meunier-Balandre, Bruno Merceron, Agnes Burel, Karine Merienne, Celia Ravel, Frederic Becq, Nicolas Bourmeyster
Summary: The study focused on the ultrastructure of the pathological retina in HD R6/1 mice and discovered the presence of myelinosomes, abnormal organelles enriched with mutant Huntingtin protein, which may contribute to the spread of HD in the retina. Exploring the presence of myelinosomes in ocular fluids could potentially serve as an additional biomarker for HD diagnostics.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Review
Clinical Neurology
Kasper F. Van der Zwaan, Marit D. C. Mentink, Milou Jacobs, Raymund A. C. Roos, Susanne T. De Bot
Summary: This systematic review summarizes the disease-specific characteristics that influence employment and working capacity in Huntington's disease (HD). The review finds that cognitive decline, motor impairments, and apathy all negatively affect employment and working capacity. Furthermore, the impact of HD extends beyond clinical manifestation, with some at-risk individuals already experiencing employment discrimination due to fear or genetic factors.
PARKINSONISM & RELATED DISORDERS
(2022)
Article
Clinical Neurology
Annalise Rahman-Filipiak, Corey Bolton, Joshua D. Grill, Ayda Rostamzadeh, Nathaniel Chin, Judith Heidebrink, Sarah Getz, Nicole R. Fowler, Allyson Rosen, Jennifer Lingler, Ellen Wijsman, Lindsay Clark
Summary: The development of biomarkers for Alzheimer's disease (AD) has allowed researchers to improve sample homogeneity and test candidate treatments earlier in the disease. However, it is unknown to what extent standardized methods for disclosing biomarker testing results to research participants are implemented in trials.
ALZHEIMERS & DEMENTIA
(2023)
Article
Clinical Neurology
Cameron Miller-Patterson, Jesse Y. Hsu, Allison W. Willis, Ali G. Hamedani
Summary: This study aimed to evaluate whether functional limitations exist in individuals with Parkinson disease before diagnosis. Using Medicare-linked data from the National Health and Aging Trends Study (NHATS) in the US, researchers found that individuals with prodromal Parkinson disease may have greater impairment in mobility and strength up to 3 years prior to diagnosis compared with the general population.
Article
Clinical Neurology
Hilkka Soininen, Alina Solomon, Pieter Jelle Visser, Suzanne B. Hendrix, Kaj Blennow, Miia Kivipelto, Tobias Hartmann
Summary: The LipiDiDiet trial demonstrated that the specific multinutrient combination Fortasyn Connect has beneficial effects on cognition and disease progression in prodromal Alzheimer's disease, with greater benefits observed with long-term use.
ALZHEIMERS & DEMENTIA
(2021)
Review
Clinical Neurology
Camila Henriques de Aquino
Summary: Alzheimer's disease and Parkinson's disease are common neurodegenerative disorders with no approved disease-modifying therapies. Advances in biomarker research have improved early identification of individuals at risk and different disease stages. However, clinical trials at these early stages face challenges such as identifying eligible populations and selecting appropriate biomarkers.
FRONTIERS IN NEUROLOGY
(2021)
Article
Orthopedics
Alvaro Reyes, Danielle M. Bartlett, Timothy J. Rankin, Pauline Zaenker, Kate Turner, Wei-Peng Teo, Shih Ching Fu, Josefa Domingos, Nellie Georgiou-Karistianis, Mel Ziman, Travis M. Cruickshank
Summary: Dual-tasking deficiencies are common in people with premanifest Huntington disease and may be influenced by poor sleep quality. Measures of dual-tasking show acceptable test-retest reliability in this population and should be considered when managing dual-tasking problems.
Article
Clinical Neurology
Simon Kang Seng Ting, Seyed Ehsan Saffari, Shahul Hameed, Hui Jin Chiew, Kok Pin Ng, Adeline S. L. Ng
Summary: In clinical practice, it is important to note that memory symptoms, although associated with a higher risk of AD diagnosis, are prominent in prodromal DLB. Psychosis is infrequent, and non-amnestic MCI is not necessarily associated with a higher risk of DLB diagnosis. A careful clinical approach is key to improve the diagnosis of prodromal DLB.
JOURNAL OF THE NEUROLOGICAL SCIENCES
(2023)
Article
Biochemistry & Molecular Biology
Santiago Larrateguy, Julian Vinagre, Federico Londero, Johana Dabin, Evangelina Ricciardi, Santiago Jeanpaul, Rodrigo Torres-Castro, Rodrigo Nunez-Cortes, Diana Sanchez-Ramirez, Elena Gimeno-Santos, Isabel Blanco
Summary: This study aimed to analyze the clinical variables related to functional capacity and exertional desaturation in post-COVID-19 patients at the time of hospital discharge. The study found that most post-COVID-19 patients exhibited reduced functional capacity and approximately half had exertional desaturation after the 1 min sit-to-stand test. The use of a high-flow nasal cannula, prolonged hospitalization, and pulmonary embolism were the main clinical variables associated with worse performance in the sit-to-stand test and a higher likelihood of exertional desaturation.
Article
Clinical Neurology
Beate Schumann-Werner, Imis Dogan, Shahram Mirzazade, Bettina Mall, Rena Overbeck, Philipp Honrath, Jorg B. Schulz, Kathrin Reetz, Cornelius J. Werner
Summary: This study provides a comprehensive investigation of dysphagia in Huntington disease, revealing a communication disorder between sensory and motor networks involved in swallowing. The study also emphasizes the importance of early instrumental swallowing evaluation.
EUROPEAN JOURNAL OF NEUROLOGY
(2021)
Article
Neurosciences
Adam S. Bernstein, Steven Z. Rapcsak, Michael Hornberger, Manojkumar Saranathan
Summary: Using a novel MRI-based thalamic segmentation technique, this study found significant atrophy in specific thalamic nuclei in late MCI and AD patients compared to healthy controls, supporting the role of thalamic nuclei in the progression of AD. Additionally, early MCI patients also showed smaller volumes in certain thalamic nuclei, indicating early changes in the thalamus during the MCI stage.
JOURNAL OF ALZHEIMERS DISEASE
(2021)
Article
Clinical Neurology
Gaiyan Zhou, Jingru Ren, Danyan Rong, Hao Zhou, Houxu Ning, Hui Wang, Chenxi Pan, Yajie Wang, Ronggui Zhang, Zhiying Guo, Peiyu Huang, Weiguo Liu
Summary: The study investigated the changes of substantia nigra (SN) free water values in prodromal and clinical stages of Parkinson's disease (PD). The results showed that SN free water values increased in prodromal stages but decreased in early clinical stages. The study also found a positive correlation between SN free water values and motor symptoms. These findings suggest that SN free water may serve as a potential marker for diagnosing and monitoring PD.
MOVEMENT DISORDERS
(2023)
Article
Clinical Neurology
Gaiyan Zhou, Jingru Ren, Danyan Rong, Hao Zhou, Houxu Ning, Hui Wang, Chenxi Pan, Yajie Wang, Ronggui Zhang, Zhiying Guo, Peiyu Huang, Weiguo Liu
Summary: The free water content in the substantia nigra (SN) is significantly different between the prodromal stage (pPD) and early clinical stage (dnPD) of Parkinson's disease. However, in the late disease stage, the trend of free water content may be reversed. These findings are important for the early diagnosis and monitoring of disease progression in Parkinson's disease.
MOVEMENT DISORDERS
(2023)
Review
Immunology
Jie Wang, Sinan Lin, Jonathan Mark Brown, David van Wagoner, Claudio Fiocchi, Florian Rieder
Summary: The incidence of inflammatory bowel diseases poses a global public health challenge, with intestinal fibrosis being a common complication in Crohn's disease. Recent progress has implicated mesenchymal cells, cytokines, microbial products, and mesenteric adipocytes in the pathogenesis of intestinal fibrosis. This information suggests that innovative therapies validated by reliable clinical trial endpoints may prevent or reverse intestinal strictures.
IMMUNOLOGICAL REVIEWS
(2021)
Article
Cell Biology
Shao-Ming Wang, Hsiang-En Wu, Yuko Yasui, Michal Geva, Michael Hayden, Tangui Maurice, Mauro Cozzolino, Tsung-Ping Su
Summary: Autophagy is a crucial cellular process with implications in various diseases. In this study, researchers discovered that the molecular chaperone SIGMAR1 is involved in the transport of TFEB into the nucleus by chaperoning the NP protein POM121, which is responsible for recruiting KPNB1. The disruption of this process in ALS-FTD patients with the C9orf72 subtype leads to impaired autophagy. However, overexpression of SIGMAR1 or POM121, as well as treatment with pridopidine, a SIGMAR1 agonist, can rescue these deficits, suggesting their potential therapeutic use.
Review
Clinical Neurology
Katharine Huynh, Leila Nategh, Sharna Jamadar, Julie Stout, Nellie Georgiou-Karistianis, Amit Lampit
Summary: This systematic review examines the effects of cognitive and exercise interventions on cognition, psycho-social function, functional independence, and neuroimaging outcomes in Huntington's disease (HD). The findings suggest that cognitive training has a larger effect on cognition, while physical exercise has a negligible effect. Combined interventions have larger effects on psycho-social function, but effects on functional independence and neuroimaging outcomes are inconclusive.
JOURNAL OF NEUROLOGY
(2023)
Article
Neurosciences
Daniel Ramandi, Nicholas J. Michelson, Lynn A. Raymond, Timothy H. Murphy
Summary: This study developed a method for simultaneous mesoscale cortical imaging and subcortical fiber photometry recording, which allows the study of neuronal activity. The results showed a high correlation between cortical and striatal activity in response to sensory stimulation or movement. This method can provide insights into the cell-specific connectivity in the corticobasal ganglia circuit organization.
Article
Psychology, Clinical
Liam F. F. Borelli-Millott, Samantha M. M. Loi, Dennis Velakoulis, Anita M. Y. Goh
Summary: This study explores the themes of psychotic symptoms in individuals diagnosed with young-onset dementia (YOD). It identifies themes in the domains of delusions, auditory hallucinations, and visual hallucinations, with recurring themes related to paranoia, suspicion, harm, and abuse. The study finds no clear relationship between the themes of psychotic symptoms and diagnostic category or time from diagnosis.
INTERNATIONAL PSYCHOGERIATRICS
(2023)
Article
Neurosciences
James P. Mackay, Amy I. Smith-Dijak, Ellen T. Koch, Peng Zhang, Evan Fung, Wissam B. Nassrallah, Caodu Buren, Mandi Schmidt, Michael R. Hayden, Lynn A. Raymond
Summary: Miniature neurotransmission is increased in the Huntington disease (HD) model, associated with abnormal endoplasmic reticulum (ER) calcium handling. These abnormalities influence neurotransmission indirectly, without direct ER calcium release into the cytoplasm. However, in cortical cultures and brain slices, there are no significant differences in calcium release between the HD-model neurons and wild-type cells.
JOURNAL OF NEUROSCIENCE
(2023)
Article
Medicine, General & Internal
Den-Ching A. Lee, Elissa Burton, Claudia Meyer, Terry P. P. Haines, Susan Hunter, Helen Dawes, Plaiwan Suttanon, Stephanie Fullarton, Fiona Connelly, Julie C. C. Stout, Keith D. D. Hill
Summary: This study investigated the potential impact of a six-week gait aid training program for elderly people with dementia on their gait outcomes, perception of use, and falls associated with gait aid use. The program consisted of four 30-minute physiotherapy home visits and was supplemented by caregiver supervision. Overall, 87.5% of participants achieved safe gait aid use, with improvements in walking speed, step length, and cadence observed at the end of the program. However, these improvements were not sustained at the 6-week post-program follow-up. Physiotherapists were more likely to perceive improved safety with gait aid use after subsequent training visits. Larger studies are needed to further evaluate the effectiveness of gait aid training for individuals with dementia.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Psychiatry
Anita M. Y. Goh, Christa Dang, Rushani Wijesuriya, Karen E. Lamb, Maya G. Panisset, Pragya Gartoulla, Esther Tan, Frances Batchelor, Bianca Brijnath, Briony Dow
Summary: This study investigates the effects of living in a pandemic, including lockdowns and restrictions, on the mental health of people living in Australia during the first year of the COVID-19 pandemic. The results indicate that despite strict lockdown measures, participants did not experience a deterioration of mental health over time.
Article
Clinical Neurology
Patrick W. Cullinane, Riona Fumi, Marte Theilmann Jensen, Edwin Jabbari, Thomas T. Warner, Tamas Revesz, Huw R. Morris, Jonathan D. Rohrer, Zane Jaunmuktane
MOVEMENT DISORDERS CLINICAL PRACTICE
(2023)
Article
Biotechnology & Applied Microbiology
Neel Mehta, Renald Gilbert, Parminder S. Chahal, Maria J. Moreno, Nasha Nassoury, Nathalie Coulombe, Viktoria Lytvyn, Mario Mercier, Dorothy Fatehi, Wendy Lin, Emily M. Harvey, Lin-Hua Zhang, Nazila Nazemi-Moghaddam, Seyyed Mehdy Elahi, Colin J. D. Ross, Danica B. Stanimirovic, Michael R. Hayden
Summary: This study aimed to develop a more efficacious AAV gene therapy vector for the treatment of LPLD. The researchers identified AAV8 pVR59 as a superior vector compared to AAV1 (Glybera), with significantly better therapeutic effects at lower doses. AAV8 pVR59 treatment led to long-term correction of LPLD and improvement in pathology.
HUMAN GENE THERAPY
(2023)
Article
Biotechnology & Applied Microbiology
Fabio Duarte, Gabriel Vachey, Nicholas S. Caron, Melanie Sipion, Maria Rey, Anselme L. Perrier, Michael R. Hayden, Nicole Deglon
Summary: Huntington's disease is a fatal neurodegenerative disorder that can be treated by inactivating the mutated HTT gene. One approach to selectively inactivate the mutant allele is by using the CRISPR/Cas9 system to remove the first exon of the mutated HTT. However, the frequency of deletion events is still uncertain.
HUMAN GENE THERAPY
(2023)
Review
Neurosciences
Katherine Fodder, Rohan de Silva, Thomas T. Warner, Conceicao Bettencourt
Summary: Neurodegenerative diseases are a group of heterogeneous conditions involving the progressive degeneration of the central or peripheral nervous systems. The underlying mechanisms are not completely understood, but protein aggregation in the brain, such as β-amyloid plaques in Alzheimer's disease and α-synuclein in Parkinson's disease, plays a central role. Dysfunctional oligodendrocytes and myelin loss are increasingly implicated in disease pathogenesis, with aberrant DNA methylation in oligodendrocyte-related genes being recently highlighted. Elucidating the involvement of DNA methylation in neurodegenerative diseases and specific cell types like oligodendrocytes may offer therapeutic opportunities, as DNA methylation is reversible.
ACTA NEUROPATHOLOGICA COMMUNICATIONS
(2023)
Article
Clinical Neurology
Patrick W. Cullinane, Sarah Wrigley, Teisha Y. Bradshaw, Karen Shaw, Samuel Shribman, Eduardo de Pablo Fernandez, Thomas T. Warner, Zane Jaunmuktane
Summary: This study describes a clinical case of chronic traumatic encephalopathy (CTE) in an 84-year-old former football player. Initially misdiagnosed as Parkinson's disease and dementia with Lewy bodies (DLB), the patient was found to have CTE through post-mortem examination. This case highlights the importance of considering a history of repetitive head impacts and the possibility of CTE, as it can mimic other dementias.
MOVEMENT DISORDERS CLINICAL PRACTICE
(2023)
Article
Clinical Neurology
Erin Furr Stimming, Daniel Claassen, Elise Kayson, Jody Goldstein, Raja Mehanna, Hui Zhang, Grace S. Liang, Dietrich Haubenberger
Summary: Valbenazine was evaluated as a treatment for chorea associated with Huntington's disease, and it was found to be more effective than placebo in improving chorea symptoms and well tolerated.
Article
Nursing
Brandon Rogers, Barbara St. Marie, Daniel Wesemann, Peg Nopoulos
Summary: This study suggests that de-escalation training in long-term care facilities can improve job safety perception, enjoyment of working with HD patients, understanding of HD symptoms, confidence in the ability to care for HD patients, and decrease resident aggression and care refusal.
JOURNAL OF THE AMERICAN PSYCHIATRIC NURSES ASSOCIATION
(2023)
Article
Neurosciences
Louisa P. Selvadurai, Susan L. Perlman, George R. Wilmot, Sub H. Subramony, Christopher M. Gomez, Tetsuo Ashizawa, Henry L. Paulson, Chiadi U. Onyike, Liana S. Rosenthal, Haris Sair, Sheng-Han Kuo, Eva-Maria Ratai, Theresa A. Zesiewicz, Khalaf O. Bushara, Gulin Oz, Cameron Dietiker, Michael D. Geschwind, Alexandra B. Nelson, Puneet Opal, Talene A. Yacoubian, Peggy C. Nopoulos, Vikram G. Shakkottai, Karla P. Figueroa, Stefan M. Pulst, Peter E. Morrison, Jeremy D. Schmahmann
Summary: This study developed a new metric, the Severity Factor (S-Factor), to predict disease severity in Spinocerebellar ataxias (SCAs) and compared it with clinical rating scales. At the group level, the S-Factor showed moderate-to-strong correlations with motor rating scales, but not with cognitive performance. However, longitudinally, the slope of the S-Factor did not consistently correlate with the slope of motor rating scales.