Article
Neurosciences
Anna Behler, Dorothee Lule, Albert C. Ludolph, Jan Kassubek, Hans-Peter Muller
Summary: By simulating longitudinal trajectories, the study found that two scans per session can improve the statistical power of longitudinal DTI studies in patients with ALS, with the third scan per session further increasing the power for FA values with high measurement uncertainty.
FRONTIERS IN NEUROSCIENCE
(2022)
Review
Biochemistry & Molecular Biology
Anna Behler, Hans-Peter Mueller, Albert C. C. Ludolph, Jan Kassubek
Summary: Diffusion tensor imaging (DTI) can be used to visualize white matter alterations in patients with amyotrophic lateral sclerosis (ALS), and machine learning (ML) models based on DTI parameters offer new opportunities for ALS diagnosis and patient stratification. To capture the full range of neuropathological signatures, DTI can be combined with other modalities, such as T1w 3-D MRI, in ML models. Standardized DTI protocols and multi-center collaborations are needed to validate multimodal DTI biomarkers for ALS.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Clinical Neurology
Francesca Trojsi, Federica Di Nardo, Mattia Siciliano, Giuseppina Caiazzo, Cinzia Femiano, Carla Passaniti, Dario Ricciardi, Antonio Russo, Alvino Bisecco, Sabrina Esposito, Maria Rosaria Monsurro, Mario Cirillo, Gabriella Santangelo, Fabrizio Esposito, Gioacchino Tedeschi
Summary: Advanced neuroimaging techniques may help monitor disease progression in amyotrophic lateral sclerosis (ALS), showing reduced functional connectivity in specific areas in ALS patients without longitudinal changes in cognitive functions. Impairment of extramotor networks may precede executive and language dysfunctions and could serve as radiological markers of disease progression.
Article
Neurosciences
Nao-Xin Huang, Wen Qin, Jia-Hui Lin, Qiu-Yi Dong, Hua-Jun Chen
Summary: This study aimed to investigate the microstructural impairments of corticospinal tracts (CSTs) with different origins in amyotrophic lateral sclerosis (ALS) using neurite orientation dispersion and density imaging (NODDI). The results showed that ALS patients had microstructural impairments in CST subfibers, especially in those originating from the primary motor area (M1), which correlated with disease severity. The combination of NODDI and CST subfibers analysis may improve the diagnostic performance for ALS.
CNS NEUROSCIENCE & THERAPEUTICS
(2023)
Article
Neuroimaging
Anna Behler, Hans-Peter Mueller, Albert C. Ludolph, Dorothee Lule, Jan Kassubek
Summary: This study implemented a multivariate Bayesian classification algorithm to predict disease stages in individual ALS patients based on DTI metrics. The results showed that the Bayesian classifier could assign more ALS patients to specific stages compared to the threshold-based method, and the reliability of the classifications could be estimated.
NEUROIMAGE-CLINICAL
(2022)
Article
Neurosciences
Haining Li, Qiuli Zhang, Qianqian Duan, Jiaoting Jin, Fangfang Hu, Jingxia Dang, Ming Zhang
Summary: The study found local abnormal surface contraction in certain regions of the brainstem in ALS patients, as well as differences in white matter integrity. Disease severity was positively associated with white matter integrity in specific regions of the brainstem.
FRONTIERS IN NEUROSCIENCE
(2021)
Article
Clinical Neurology
Soumia Benbrika, Franck Doidy, Laurence Carluer, Audrey Mondou, Alice Pelerin, Francis Eustache, Fausto Viader, Beatrice Desgranges
Summary: In patients with ALS, cognitive, emotional, and mental state symptoms were observed, and these symptoms did not significantly worsen during the follow-up period. Cortical thinning was observed to worsen in motor and other brain regions over time. Certain cognitive functions were found to be correlated with specific areas of cortical thinning.
FRONTIERS IN NEUROLOGY
(2021)
Article
Neurosciences
Robert Steinbach, Nayana Gaur, Annekathrin Roediger, Thomas E. Mayer, Otto W. Witte, Tino Prell, Julian Grosskreutz
Summary: This study used the novel D50 model to investigate correlations between diffusion tensor imaging measures and ALS pathology. High disease aggressiveness patients showed specific white matter pathway abnormalities, and there were correlations between disease accumulation and DTI measures, especially in the early stages of the disease.
HUMAN BRAIN MAPPING
(2021)
Article
Clinical Neurology
Xin Li, Qi Liu, Tongyang Niu, Tingting Liu, Zikai Xin, Xiaomeng Zhou, Rui Li, Zhenzhong Li, Lijing Jia, Yaling Liu, Hui Dong
Summary: This study aimed to explore the characteristics of sleep disorders and their relationship with abnormal white-matter integrity in patients with sporadic amyotrophic lateral sclerosis. The findings suggest that sleep disorders are common in patients with sporadic amyotrophic lateral sclerosis and are associated with reduced white-matter integrity.
Article
Medicine, General & Internal
Olivia Foesleitner, Karl Christian Knop, Matthias Lindenau, Fabian Preisner, Philipp Baeumer, Sabine Heiland, Martin Bendszus, Moritz Kronlage
Summary: This study aimed to assess the phenotype of multifocal motor neuropathy (MMN) and amyotrophic lateral sclerosis (ALS) using quantitative MR neurography. The results showed that MMN exhibited distinct DTI and T2-relaxometry parameter changes in the upper-arm nerves, primarily indicating demyelination, compared to ALS and controls. The current state-of-the-art quantitative MR neurography was unable to detect peripheral nerve changes in ALS patients.
Article
Clinical Neurology
Hans-Peter Mueller, Anna Behler, Maximilian Muench, Johannes Dorst, Albert C. C. Ludolph, Jan Kassubek
Summary: This study investigates the association between the sequential alteration pattern and disease severity in patients with ALS using diffusion tensor imaging (DTI). The results show that the progression of white matter alterations across tracts is associated with clinical disease severity, suggesting the use of staging-based DTI as a technical marker for disease progression.
JOURNAL OF NEUROLOGY
(2023)
Article
Neuroimaging
Francesca Trojsi, Federica Di Nardo, Giuseppina Caiazzo, Mattia Siciliano, Giulia D'Alvano, Teresa Ferrantino, Carla Passaniti, Dario Ricciardi, Sabrina Esposito, Luigi Lavorgna, Antonio Russo, Simona Bonavita, Mario Cirillo, Gabriella Santangelo, Fabrizio Esposito, Gioacchino Tedeschi
Summary: The study found that memory deficit in ALS patients may be independent from executive dysfunction. Multimodal MRI showed significant functional and structural connectivity changes in ALS patients across the Papez circuit and more extended areas including the cerebellum and frontal, temporal and parietal areas.
BRAIN IMAGING AND BEHAVIOR
(2021)
Article
Radiology, Nuclear Medicine & Medical Imaging
Monika Gloor, Michaela Andelova, Laura Gaetano, Athina Papadopoulou, Federico Burguet Villena, Till Sprenger, Ernst-Wilhelm Radue, Ludwig Kappos, Oliver Bieri, Meritxell Garcia
Summary: This study analyzed the potential of magnetization transfer imaging (MTI) and diffusion tensor imaging (DTI) for the detection and evolution of new multiple sclerosis (MS) lesions. The results showed that MTI provides more information than DTI and can detect tissue changes 2 to 4 months prior to their appearance on MRI.
EUROPEAN RADIOLOGY
(2023)
Review
Radiology, Nuclear Medicine & Medical Imaging
Anjan Bhattarai, Gary F. Egan, Paul Talman, Phyllis Chua, Zhaolin Chen
Summary: This review provides an overview of MRI techniques used to investigate iron dysregulation in ALS, highlighting their potential uses and limitations in disease diagnosis and prognosis. It recommends further longitudinal studies to validate the efficacy of these techniques and concludes that quantitative iron assessment using QSM in MRI holds great potential as a sensitive diagnostic and prognostic marker in ALS. Furthermore, combining multimodal neuroimaging markers with iron imaging may offer improved sensitivity in ALS diagnosis and prognosis, contributing significantly to clinical care and treatment trials.
JOURNAL OF MAGNETIC RESONANCE IMAGING
(2022)
Article
Clinical Neurology
Philippe Corcia, Pascal Lejeune, Patrick Vourc'h, Stephane Beltran, Anne-Sophie Piegay, Helene Blasco, Vincent Meininger
Summary: This study characterized the prototypical phenotype of patients with amyotrophic lateral sclerosis (ALS) associated with PFN1 mutations and identified clinical indications for testing mutations in this gene. The main clinical findings for familial ALS linked to PFN1 were identified as pedigrees with over five cases, an onset age around 50 years, onset in the lower limbs, and the absence of cognitive impairment. The similarities with other ALS mutations prompt a review of ALS classifications based on both phenotype and genotype.
EUROPEAN JOURNAL OF NEUROLOGY
(2023)
Article
Clinical Neurology
Aya Ogura, Kazuya Kawabata, Hirohisa Watanabe, Shao Wei Choy, Epifanio Bagarinao, Toshiyasu Kato, Kazunori Imai, Michihito Masuda, Reiko Ohdake, Kazuhiro Hara, Ryoichi Nakamura, Naoki Atsuta, Tomohiko Nakamura, Masahisa Katsuno, Gen Sobue
Summary: In this study, a novel framework for diffusion-weighted imaging analysis called Fixel-based analysis (FBA) was used to investigate white matter changes in ALS patients. The findings showed reduced fiber density and morphology in the bilateral corticospinal tracts and corpus callosum of ALS patients. Clinical scores were negatively correlated with fiber density values in the corticospinal tracts.
EUROPEAN JOURNAL OF NEUROLOGY
(2022)
Review
Radiology, Nuclear Medicine & Medical Imaging
Sung Jun Ahn, Toshiaki Taoka, Won-Jin Moon, Shinji Naganawa
Summary: Contrast-enhanced FLAIR, traditionally used to evaluate leptomeningeal disease, is now being explored for various other pathologies. However, the exact mechanism for its high sensitivity to low concentrations of gadolinium remains unclear, and challenges exist in its accurate application due to unoptimized parameters in clinical practice.
JOURNAL OF MAGNETIC RESONANCE IMAGING
(2022)
Article
Geriatrics & Gerontology
Genki Tohnai, Ryoichi Nakamura, Naoki Atsuta, Masahiro Nakatochi, Naoki Hayashi, Daisuke Ito, Hazuki Watanabe, Hirohisa Watanabe, Masahisa Katsuno, Yuishin Izumi, Akira Taniguchi, Kazuaki Kanai, Mitsuya Morita, Osamu Kano, Satoshi Kuwabara, Masaya Oda, Koji Abe, Masashi Aoki, Ikuko Aiba, Koichi Okamoto, Kouichi Mizoguchi, Tomohiko Ishihara, Akihiro Kawata, Takanori Yokota, Kazuko Hasegawa, Isao Nagano, Ichiro Yabe, Fumiaki Tanaka, Satoshi Kuru, Nobutaka Hattori, Kenji Nakashima, Ryuji Kaji, Gen Sobue
Summary: This study aimed to determine the frequencies and characteristics of DNAJC7 gene variants in a Japanese ALS cohort. Rare missense variants and one splice-site variant of DNAJC7 were detected in 807 Japanese patients with sporadic ALS. The variants were located around the TPR domain and the estimated frequency of DNAJC7 variants in Japanese ALS patients was 0.87%.
NEUROBIOLOGY OF AGING
(2022)
Article
Genetics & Heredity
Kazuki Watanabe, Mitsuko Nakashima, Rie Wakatsuki, Tomoyasu Bunai, Yasuomi Ouchi, Tomohiko Nakamura, Hiroaki Miyajima, Hirotomo Saitsu
Summary: This study investigated the genetic basis and brain metabolism and blood flow of a Japanese family with spinocerebellar degeneration (SCD). Whole-exome sequencing (WES) and whole-genome sequencing (WGS) were performed, but no likely pathogenic variants were identified. ExpansionHunter Denovo detected repeat expansions in the RFC1 gene, leading to the diagnosis of RFC1-related disorders. The patients showed a variety of clinical features, including motor neuropathy and cognitive impairment. Imaging studies revealed cortical damage in some patients, while others showed no apparent cerebral damage.
NEUROLOGY-GENETICS
(2022)
Article
Radiology, Nuclear Medicine & Medical Imaging
Ryota Horiguchi, Yasuo Takehara, Masataka Sugiyama, Ryota Hyodo, Tomohiro Komada, Masaya Matsushima, Shinji Naganawa, Takashi Mizuno, Yasuo Sakurai, Masayuki Sugimoto, Hiroshi Banno, Kimihiro Komori, Keiichi Itatani
Summary: The aim of this study was to investigate the impact of endovascular aneurysmal repair (EVAR) on the local hemodynamics of abdominal aortic aneurysm (AAA). The results showed a 1.7-fold increase in local energy loss (EL) after EVAR, with a greater increase in the deformed stent-graft subgroup. These findings could be a potential concern for frail patients.
JOURNAL OF MAGNETIC RESONANCE IMAGING
(2023)
Review
Radiology, Nuclear Medicine & Medical Imaging
Hiroyasu Umakoshi, Takashi Nihashi, Akira Takada, Naoki Hirasawa, Shunichi Ishihara, Yasuo Takehara, Shinji Naganawa, Matthew S. Davenport, Teruhiko Terasawa
Summary: Changing iodinated contrast media (ICM) can reduce the risk of recurrent immediate hypersensitivity reactions in patients with previous ICM-induced hypersensitivity reactions.
Article
Clinical Neurology
Ryota Torii, Atsushi Hashizume, Shinichiro Yamada, Daisuke Ito, Yoshiyuki Kishimoto, Hideyuki Moriyoshi, Tomonori Inagaki, Ryoichi Nakamura, Tomohiko Nakamura, Tameto Naoi, Mitsuya Morita, Masahisa Katsuno
Summary: This study aimed to investigate the clinical and electrophysiologic features of female carriers and early-stage male patients with SBMA. The results showed that female carriers experienced mild muscle weakness in neck flexion and a slow walking speed, along with changes in neurogenic biomarkers.
Review
Clinical Neurology
Hirohisa Watanabe, Sayuri Shima, Yasuaki Mizutani, Akihiro Ueda, Mizuki Ito
Summary: This review summarizes the improvements in understanding the pathophysiology and early clinical symptoms of multiple system atrophy (MSA), as well as advancements in diagnostic methods and disease-modifying therapies for the condition. The introduction of new diagnostic criteria in 2022 and the use of artificial intelligence and machine learning in neuroimaging have significantly improved diagnostic accuracy. Treatment advancements, including immunotherapy against alpha-synuclein and stem cell therapies, show promise in targeting different aspects of the disease.
JOURNAL OF MOVEMENT DISORDERS
(2023)
Review
Radiology, Nuclear Medicine & Medical Imaging
Nivedita Agarwal, Laura D. Lewis, Lydiane Hirschler, Leonardo Rivera Rivera, Shinji Naganawa, Swati Rane Levendovszky, Geir Ringstad, Marijan Klarica, Joanna Wardlaw, Costantino Iadecola, Cheryl Hawkes, Roxana Octavia Carare, Jack Wells, Erik N. T. P. Bakker, Vartan Kurtcuoglu, Lynne Bilston, Maiken Nedergaard, Yuki Mori, Marcus Stoodley, Noam Alperin, Mony de Leon, Matthias J. P. van Osch
Summary: Neurofluids refer to all fluids in the brain and spine, including blood, cerebrospinal fluid, and interstitial fluid. Neuroscientists have identified various fluid environments that interact harmoniously to support optimal brain function. Animal studies have been crucial in understanding the dynamics of neurofluids, while human studies are limited due to the lack of noninvasive imaging techniques. The future development of noninvasive MRI techniques holds promise in imaging neurofluid dynamics and identifying pathological processes.
JOURNAL OF MAGNETIC RESONANCE IMAGING
(2023)
Review
Clinical Neurology
Toshiharu Nagatsu, Akira Nakashima, Hirohisa Watanabe, Shosuke Ito, Kazumasa Wakamatsu, Fabio A. Zucca, Luigi Zecca, Moussa Youdim, Maximilian Wulf, Peter Riederer, Johannes M. Dijkstra
Summary: The dark pigment neuromelanin (NM) is abundant in dopamine (DA) neurons in the substantia nigra (SN) and norepinephrine (NE) neurons in the locus coeruleus (LC) in the human brain. During the progression of Parkinson's disease (PD), NM levels in these neurons decrease. The synthesis pathway involves conversion of tyrosine to L-DOPA, then to DA or NE, followed by autoxidation and conversion to eumelanic or pheomelanic NM.
JOURNAL OF NEURAL TRANSMISSION
(2023)
Letter
Multidisciplinary Sciences
Shinji Naganawa, Yutaka Kato, Tadao Yoshida, Michihiko Sone
NATURE COMMUNICATIONS
(2023)
Article
Medicine, General & Internal
Tadashi Shiohama, Norihide Maikusa, Masahiro Kawaguchi, Jun Natsume, Yoshiyuki Hirano, Keito Saito, Jun-ichi Takanashi, Jacob Levman, Emi Takahashi, Koji Matsumoto, Hajime Yokota, Shinya Hattori, Keita Tsujimura, Daisuke Sawada, Tomoko Uchida, Tomozumi Takatani, Katsunori Fujii, Shinji Naganawa, Noriko Sato, Hiromichi Hamada, Andor W. J. M. Glaudemans
Summary: This study aims to provide normal reference values of global and regional brain volumes for children and adolescents of different sexes and age groups across multiple institutions. MRI examinations of 846 neurotypical participants were collected, and regional brain volumes were measured and analyzed using the CIVET 2.1.0. pipeline and ComBat-GAM harmonization. The results of this study can be used to evaluate the brain morphology of individuals in a clinical setting and investigate brain morphology in ultra-rare diseases.
Article
Otorhinolaryngology
Tadao Yoshida, Masumi Kobayashi, Satofumi Sugimoto, Shinji Naganawa, Michihiko Sone
Summary: Otitis media with antineutrophil cytoplasmic antibody-associated vasculitis (OMAAV) is a new type of otitis media. Early detection and intervention can improve the hearing loss caused by OMAAV, but recovering the patient's hearing may be challenging if it continues to worsen and leads to deafness. Bilateral deafness can only be improved through cochlear implant (CI) surgery. This article presents two cases of cochlear calcification caused by OMAAV and emphasizes the importance of early detection through computed tomography scans and timely CI surgery for hearing improvement in patients with OMAAV-induced deafness.
AURIS NASUS LARYNX
(2023)
Letter
Radiology, Nuclear Medicine & Medical Imaging
Shinji Naganawa, Rintaro Ito, Toshiaki Taoka, Tadao Yoshida, Michihiko Sone