Article
Clinical Neurology
Christina Andica, Koji Kamagata, Wataru Uchida, Yuya Saito, Kaito Takabayashi, Akifumi Hagiwara, Haruka Takeshige-Amano, Taku Hatano, Nobutaka Hattori, Shigeki Aoki
Summary: This study compared the white matter differences between nonmedicated patients with early-stage GBA-PD and iPD using a novel technique, fixel-based analysis. The results showed that patients with GBA-PD had lower white matter density, while patients with iPD had larger white matter fiber bundles. These findings may be related to neurodegenerative diseases, α-synuclein accumulation, and cognitive and motor impairments.
MOVEMENT DISORDERS
(2023)
Review
Clinical Neurology
Elisabetta Sarasso, Federica Agosta, Noemi Piramide, Massimo Filippi
Summary: This review summarizes the current knowledge on longitudinal cortical and subcortical grey and white matter MRI findings in Parkinson's disease patients, with a focus on disease duration, severity, and cognitive impairment. Cortical atrophy accumulation in specific brain regions appears to progress with disease duration, while microstructural damage of motor and associative white matter tracts seems to rapidly progress even in early PD stages. The role of structural MRI metrics as biomarkers for disease progression in PD patients remains debated.
JOURNAL OF NEUROLOGY
(2021)
Article
Neurosciences
Shima Safaiyan, Simon Besson-Girard, Tugberk Kaya, Ludovico Cantuti-Castelvetri, Lu Liu, Hao Ji, Martina Schifferer, Garyfallia Gouna, Fumere Usifo, Nirmal Kannaiyan, Dirk Fitzner, Xianyuan Xiang, Moritz J. Rossner, Matthias Brendel, Ozgun Gokce, Mikael Simons
Summary: Research has identified white matter-associated microglia (WAMs) as a protective response during aging, characterized by phagocytic activity and lipid metabolism gene activation. WAMs depend on triggering receptor expressed on myeloid cells 2 (TREM2) signaling and are independent of apolipoprotein E (APOE) in contrast to mouse models of Alzheimer's disease.
Editorial Material
Multidisciplinary Sciences
Zak Doric, Ken Nakamura
Summary: By disrupting mitochondria in vulnerable neuronal cells, mice provide a new model of Parkinson's disease that challenges long-held ideas about the disease's motor symptoms.
Article
Geriatrics & Gerontology
Juan Chen, Yuwen Zhao, Xun Zhou, Jin Xue, Qiao Xiao, Hongxu Pan, Xiaoxia Zhou, Yaqin Xiang, Jian Li, Liping Zhu, Zhou Zhou, Yang Yang, Qian Xu, Qiying Sun, Xinxiang Yan, Jieqiong Tan, Jinchen Li, Jifeng Guo, Ranhui Duan, Beisha Tang, Qiao Yu, Zhenhua Liu
Summary: This study found that the GZ allele of FMR1 CGG repeat expansions was not significantly enriched in Chinese PD patients, suggesting that it may not be strongly associated with PD in this population. However, two PD patients were found to have FMR1 premutation.
FRONTIERS IN AGING NEUROSCIENCE
(2023)
Article
Clinical Neurology
Antoine Garnier-Crussard, Francois Cotton, Pierre Krolak-Salmon, Gael Chetelat
Summary: White matter hyperintensities (WMH) are vascular lesions frequently seen in older adults, but recent evidence suggests that non-vascular mechanisms, particularly in Alzheimer's disease (AD), may also contribute to WMH. This alternative hypothesis is supported by arguments from neuropathology, neuroimaging, fluid biomarkers, and genetics. The underlying mechanisms of AD-related WMH, such as neurodegeneration or neuroinflammation, are discussed, as well as the implications for AD diagnosis and management. Testing this hypothesis and addressing remaining challenges can improve personalized care for patients.
ALZHEIMERS & DEMENTIA
(2023)
Article
Clinical Neurology
Pietro Giuseppe Scamarcia, Federica Agosta, Edoardo Gioele Spinelli, Silvia Basaia, Tanja Stojkovic, Iva Stankovic, Elisabetta Sarasso, Elisa Canu, Vladana Markovic, Igor Petrovic, Elka Stefanova, Elisabetta Pagani, Vladimir S. Kostic, Massimo Filippi
Summary: The study found that white matter microstructural damage has a minimal impact on clinical deterioration in Parkinson's disease (PD), while white matter hyperintensities (WMHs) are associated with cognitive decline. WMHs assessed by MRI can serve as an important tool for monitoring cognitive impairment progression in PD patients.
MOVEMENT DISORDERS
(2022)
Article
Neurosciences
Li Meng, Hongyu Wang, Ting Zou, Xuyang Wang, Huafu Chen, Fangfang Xie, Rong Li
Summary: This study found that Parkinson's disease patients have weaker interactions among brain white matter functional networks, which are associated with clinical symptoms. These findings may aid in understanding the neuropathology and progression of Parkinson's disease from the perspective of brain white matter function.
HUMAN BRAIN MAPPING
(2022)
Article
Clinical Neurology
Carmen Picon, Anusha Jayaraman, Rachel James, Catriona Beck, Patricia Gallego, Maarten E. Witte, Jack van Horssen, Nicholas D. Mazarakis, Richard Reynolds
Summary: The study suggests that in the cortex of multiple sclerosis, necroptosis induced by TNF may be more common than apoptosis, possibly initiated by chronic meningeal inflammation. Neuronal necroptosis represents a pathogenetic mechanism that is amenable to therapeutic intervention at several points in the signaling pathway.
ACTA NEUROPATHOLOGICA
(2021)
Review
Neurosciences
Kai Yang, Zhengqi Wu, Jie Long, Wenxin Li, Xi Wang, Ning Hu, Xinyue Zhao, Taolei Sun
Summary: This article reviews the evidence collected by magnetic resonance imaging (MRI) techniques on the white matter (WM) abnormalities in Parkinson's disease (PD) and discusses the correlations between WM changes and specific PD symptoms. Transcriptome and genome studies are also summarized to show the changes in oligodendrocytes (OLs)/myelin in PD. The authors conclude that WM abnormalities caused by myelin/OLs changes may be important for PD pathology and can be potential targets for PD treatment.
NPJ PARKINSONS DISEASE
(2023)
Article
Clinical Neurology
Angeliki Zarkali, Peter McColgan, Louise-Ann Leyland, Andrew J. Lees, Rimona S. Weil
Summary: Visual dysfunction in patients with Parkinson's disease predicts cognitive impairment, with those having poor visual function showing more severe cognitive decline and greater white matter changes during follow-up.
MOVEMENT DISORDERS
(2021)
Article
Cell Biology
Maria Jimena Salcedo-Arellano, Michael D. Johnson, Yingratana A. McLennan, Ye Hyun Hwang, Pablo Juarez, Erin Lucille McBride, Adriana P. Pantoja, Blythe Durbin-Johnson, Flora Tassone, Randi J. Hagerman, Veronica Martinez-Cerdeno
Summary: This study analyzed postmortem human brain tissues and identified alterations in metabolites involved in oxidative-stress response and bioenergetics in individuals with FXTAS. Changes in relative abundance of specific metabolites were found in specific brain regions, including 2,5-dihydroxypyrazine. The study also found correlations between decreased relative abundance of cytidine and oleamide and symptoms of FXTAS.
Review
Clinical Neurology
Kaitlyn M. L. Cramb, Dayne Beccano-Kelly, Stephanie J. Cragg, Richard Wade-Martins
Summary: Cramb et al. provide a review of evidence suggesting dopamine release deficits occur prior to neurodegeneration in Parkinson's disease. They also highlight the need for further investigation in understanding the mechanisms behind these deficits.
Article
Cell Biology
Ashwati Vipin, Benjamin Yi Xin Wong, Dilip Kumar, Audrey Low, Kok Pin Ng, Nagaendran Kandiah
Summary: This study investigated the relationship between small-vessel cerebrovascular disease and grey matter volume (GMV) alterations in Alzheimer's disease patients. The results showed differential effects of WMH burden on GMV in Mild Cognitive Impairment (MCI), with both negative and positive associations observed at different WMH loads. Additionally, the association between WMH and cognitive functions such as memory and executive function was moderated by regional GMV in MCI patients.
Article
Clinical Neurology
Jin Ho Jung, Yae Ji Kim, Seok Jong Chung, Han Soo Yoo, Yang Hyun Lee, Kyoungwon Baik, Seong Ho Jeong, Young Gun Lee, Hye Sun Lee, Byoung Seok Ye, Young H. Sohn, Yong Jeong, Phil Hyu Lee
Summary: The study aimed to investigate the role of white matter connectivity networks in the development of levodopa-induced dyskinesia, and comparative analysis between vulnerable and resistant groups revealed lower mean diffusivity in the left frontal region of the vulnerable group. Furthermore, the study found stronger connectivity within subnetwork A and hub-subnetwork centered on the left superior frontal gyrus in the vulnerable group, which were associated with the development of levodopa-induced dyskinesia.
JOURNAL OF NEUROLOGY
(2022)
Article
Biochemistry & Molecular Biology
Danuta Z. Loesch, Flora Tassone, Anna Atkinson, Paige Stimpson, Nicholas Trost, Dean L. Pountney, Elsdon Storey
Summary: Expansions of the CGG repeat in the non-coding segment of the FMR1 X-linked gene are associated with various phenotypic changes. Female carriers of the fragile X premutation may themselves experience a wide range of clinical problems, with the most severe being Fragile X-Associated Tremor Ataxia Syndrome (FXTAS). Male premutation carriers have a higher risk of developing FXTAS, but sex-specific differences in clinical manifestations and progression are poorly documented.
FRONTIERS IN MOLECULAR BIOSCIENCES
(2021)
Article
Medicine, General & Internal
Afrodite Zendeli, Minh Bui, Lukas Fischer, Ali Ghasem-Zadeh, Wolfgang Schima, Ego Seeman
Summary: This study found that stress fractures are associated with compromised cortical and trabecular microstructure in both distal radius and tibia, as compared to healthy controls. Men with stress fractures exhibited smaller cortical cross sectional area, higher porosity, and lower trabecular vBMD, while women showed higher porosity in certain zones and lower trabecular vBMD.
JOURNAL OF CLINICAL MEDICINE
(2021)
Article
Pediatrics
David Champion, Minh Bui, Aneeka Bott, Theresa Donnelly, Shuxiang Goh, Cindy Chapman, Daniel Lemberg, Tiina Jaaniste, John Hopper
Summary: The primary pain disorders of childhood, including growing pains, migraines, and recurrent abdominal pain, are significantly influenced by additive genetic effects. However, the influence of genetic factors in headache, low back pain, and persistent pain is less conclusive, suggesting shared environmental factors may play a larger role in these conditions.
Article
Endocrinology & Metabolism
Ali Ghasem-Zadeh, Minh Bui, Ego Seeman, Steven K. Boyd, Sandra Iuliano, Rizwan Jaipurwala, Peter F. Mount, Nigel D. Toussaint, Cherie Chiang
Summary: Patients with chronic kidney disease (CKD) may experience reduced estimated failure load due to deterioration in bone microarchitecture, regardless of their femoral neck (FN) bone mineral density (BMD) status. This suggests that bone fragility could be present in CKD patients despite osteopenia or normal BMD, highlighting the importance of measuring microarchitecture in assessing fracture risk and targeting therapy effectively.
Article
Neurosciences
K. Carroll, R. A. Kennedy, V. Koutoulas, M. Bui, C. M. Kraan
Summary: The study found that Physilog(R)5 inertial sensors can accurately measure walking in adolescents, with stride time being the most accurately detected parameter. Gender differences were observed in stride velocity, favoring females. These findings pave the way for using wearables for assessments with children outside of the laboratory environment.
Article
Medicine, General & Internal
David E. Godler, Ling Ling, Dinusha Gamage, Emma K. Baker, Minh Bui, Michael J. Field, Carolyn Rogers, Merlin G. Butler, Alessandra Murgia, Emanuela Leonardi, Roberta Polli, Charles E. Schwartz, Cindy D. Skinner, Angelica M. Alliende, Lorena Santa Maria, James Pitt, Ronda Greaves, David Francis, Ralph Oertel, Min Wang, Cas Simons, David J. Amor
Summary: The findings of this study suggest that screening for all chromosome 15 imprinting disorders using SNRPN methylation analysis is feasible, with 5 individuals identified out of 16,579 infants screened.
Article
Clinical Neurology
Quinlan D. Buchlak, Michael R. Milne, Jarrel Seah, Andrew Johnson, Gihan Samarasinghe, Ben Hachey, Nazanin Esmaili, Aengus Tran, Jean-Christophe Leveque, Farrokh Farrokhi, Tony Goldschlager, Simon Edelstein, Peter Brotchie
Summary: This study examines the potential of deep learning in the analysis of brain CT scans. By drawing on the experiences of clinicians and technologists, it discusses the past, present, and future of CTB, as well as the benefits and risks of implementing deep learning systems.
JOURNAL OF CLINICAL NEUROSCIENCE
(2022)
Article
Obstetrics & Gynecology
Phillip Aouad, Minh Bui, Sara Sarraf, Theresa Donnelly, Yuxi Chen, Tiina Jaaniste, John Eden, G. David Champion
Summary: A twin family study revealed that primary dysmenorrhoea in adolescents and young women is strongly influenced by genetics, and is associated with a history of iron deficiency and painless restless legs syndrome.
AUSTRALIAN & NEW ZEALAND JOURNAL OF OBSTETRICS & GYNAECOLOGY
(2022)
Article
Genetics & Heredity
Emma K. Baker, Marta Arpone, Minh Bui, Claudine M. Kraan, Ling Ling, David Francis, Mathew F. Hunter, Carolyn Rogers, Michael J. Field, Lorena Santa Maria, Victor Faundes, Bianca Curotto, Paulina Morales, Cesar Trigo, Isabel Salas, Angelica M. Alliende, David J. Amor, David E. Godler
Summary: This study found significant associations between FMR1 methylation levels in blood and buccal epithelial cells and FMR1 mRNA levels and intellectual functioning in males with FXS, with stronger relationships seen using MS-QMA compared to mSB.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2023)
Article
Pediatrics
Tessa Beerstra, Minh Bui, Tiina Jaaniste, Aneeka Bott, John Hopper, G. David Champion
Summary: This twin family study aimed to investigate the evidence for genetic factors predicting the risk of non-specific low back pain and thoracolumbar back pain in children, adolescents, and their first-degree relatives. The study found that monozygous (MZ) twin pairs were more similar than dizygous (DZ) pairs for back pain conditions, suggesting the existence of genetic vulnerability. Moreover, back pain was associated with pain in multiple sites and other conditions, indicating the influence of primary pain conditions and syndromes of childhood and adolescence.
Article
Behavioral Sciences
Ewan S. Nurse, Linda J. Dalic, Shannon Clarke, Mark Cook, John Archer
Summary: This study investigates a deep learning model for the detection of generalized paroxysmal fast activity (GPFA) events and estimation of their overall burden from scalp EEG. The model achieved a high correlation coefficient with manual estimates and showed good detection sensitivity. There was no significant difference found in patients with different treatments.
EPILEPSY & BEHAVIOR
(2023)
Article
Engineering, Biomedical
Kevin Meng, Farhad Goodarzy, EuiYoung Kim, Ye Jin Park, June Sic Kim, Mark J. Cook, Chun Kee Chung, David B. Grayden
Summary: This study aimed to demonstrate the feasibility of synthesizing artificial speech sounds from human cortical surface recordings during silent speech production. Ten participants with intractable epilepsy were temporarily implanted with intracranial electrode arrays. A decoding model predicted audible outputs directly from patient-specific neural feature inputs, and the synthesized sounds were objectively and subjectively assessed.
JOURNAL OF NEURAL ENGINEERING
(2023)
Article
Clinical Neurology
Gabrielle M. Schroeder, Philippa J. Karoly, Matias Maturana, Mariella Panagiotopoulou, Peter N. Taylor, Mark J. Cook, Yujiang Wang
Summary: In this observational study, researchers analyzed the variability of seizures in patients with chronic intracranial EEG recordings and found that the variability is modulated by different factors on multiple timescales. These findings have important implications for the treatment of epilepsy.
BRAIN COMMUNICATIONS
(2023)
Article
Engineering, Biomedical
Wenjuan Xiong, Ewan S. Nurse, Elisabeth Lambert, Mark J. Cook, Tatiana Kameneva
Summary: This study investigates the use of machine learning techniques for classification of psychogenic non-epileptic seizures (PNES) and epileptic seizures (ES) based on electroencephalography (EEG) and electrocardiography (ECG) data. The highest classification accuracy achieved was 87.83%, using the 15-0 minute preictal period of EEG and ECG data. Combining ECG data with EEG data improved the classification accuracy from 86.37% to 87.83%.
IEEE TRANSACTIONS ON NEURAL SYSTEMS AND REHABILITATION ENGINEERING
(2023)
Article
Biochemistry & Molecular Biology
David E. Godler, Yoshimi Inaba, Minh Q. Bui, David Francis, Cindy Skinner, Charles E. Schwartz, David J. Amor
Summary: This study characterizes the specific DNA methylation patterns of fragile X syndrome in blood and brain tissues, providing a novel avenue for the detection of the syndrome through DNA methylation analysis.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
