Article
Clinical Neurology
Tomokatsu Yoshida, Ikuko Mizuta, Rei Yasuda, Toshiki Mizuno
Summary: Older-adult-onset Alexander disease cases with an onset age of 65 years or older showed typical neurological and MRI features of bulbospinal ALXDRD, with more severe disease progression compared to younger-adult-onset cases and development of dependence within 2 years from onset. Cerebral white matter damage tended to progress in proportion to the duration of illness.
EUROPEAN JOURNAL OF NEUROLOGY
(2021)
Article
Immunology
Michelle M. Boyd, Suzanne J. Litscher, Laura L. Seitz, Albee Messing, Tracy L. Hagemann, Lara S. Collier
Summary: A study on using a CSF1R inhibitor, pexidartinib, in GFAP knock-in mutant AxD model mice found that it depleted macrophages in the CNS and caused elevation of GFAP levels with minimal impacts on other phenotypes, leading to the conclusion that pexidartinib may not be a suitable therapy for AxD.
JOURNAL OF NEUROINFLAMMATION
(2021)
Article
Neurosciences
Mengxing Liu, Garikoitz Lerma-Usabiaga, Francisco Clasca, Pedro M. Paz-Alonso
Summary: In this study, a reconstruction protocol based on in vivo diffusion MRI was developed to extract and measure specific axonal fiber tracts in individual first-order relay nuclei. The protocol demonstrated high computational and test-retest reproducibility. This new protocol is significant for both basic human brain neuroscience and clinical studies.
Article
Biochemistry & Molecular Biology
Jonathan Repple, Greta Karliczek, Susanne Meinert, Katharina Foerster, Dominik Grotegerd, Janik Goltermann, Ronny Redlich, Volker Arolt, Bernhard T. Baune, Udo Dannlowski, Nils Opel
Summary: This study found that even low-grade HbA1c variation below the diagnostic threshold for diabetes is related to cognitive performance and white matter integrity in healthy, young adults. These findings highlight the detrimental impact of metabolic risk factors on brain physiology and underscore the importance of intensified preventive measures independent of the currently applied diagnostic HbA1c cutoff scores.
MOLECULAR PSYCHIATRY
(2021)
Article
Cell Biology
Tracy L. Hagemann, Sierra Coyne, Alder Levin, Liqun Wang, Mel B. Feany, Albee Messing
Summary: Alexander disease (AxD) is caused by mutations in the GFAP gene, leading to GFAP aggregation and astrogliosis. STAT3 is activated in AxD and regulates GFAP expression. Inhibiting STAT3 activation can reduce GFAP toxicity and provide therapeutic benefits in AxD patients.
Article
Biochemistry & Molecular Biology
Elizabeth Pereida-Jaramillo, Gabriela B. Gomez-Gonzalez, Angeles Edith Espino-Saldana, Ataulfo Martinez-Torres
Summary: Radial glial cells play a central role in neuronal origin and placement, while glutamatergic signaling in adult cerebellum is crucial for motor coordination. Development of calcium activity in radial glia is related to morphological changes, as seen in transgenic zebrafish, where cells become larger and more elaborate over time. Spontaneous calcium events are scarce in early development, with calcium waves appearing later and being inhibited by gap junction coupling blockage. This study provides crucial insights into radial glia organization, morphology, and calcium signaling during development.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Neurosciences
Gelareh Vakilzadeh, Carmen Falcone, Brett Dufour, Tiffany Hong, Stephen C. Noctor, Veronica Martinez-Cerdeno
Summary: The number of astrocytes is decreased and their activation state is increased in the cerebral cortex of individuals with autism spectrum disorder (ASD). This suggests a potential connection between altered astrocytes, impaired synaptic function, and inflammatory processes in ASD.
Article
Neurosciences
Taylor G. Brown, Mackenzie N. Thayer, Jillian G. VanTreeck, Nicole Zarate, Damyan W. Hart, Sarah Heilbronner, Rocio Gomez-Pastor
Summary: Huntington's disease primarily affects the striatum, causing dysfunction and loss of neurons. This study found that different subtypes of astrocytes, characterized by the expression of GFAP and S100B markers, are affected differently in HD and have distinct spatial arrangements. These findings provide new insights into the potential implications of these specific astrocyte subtypes in HD pathology.
FRONTIERS IN CELLULAR NEUROSCIENCE
(2023)
Article
Cell Biology
Tracy L. Hagemann, Berit Powers, Ni-Hsuan Lin, Ahmed F. Mohamed, Katerina L. Dague, Seth C. Hannah, Gemma Bachmann, Curt Mazur, Frank Rigo, Abby L. Olsen, Mel B. Feany, Ming-Der Perng, Robert F. Berman, Albee Messing
Summary: This study introduces a novel rat model of Alexander disease exhibiting hallmark pathology, and demonstrates the potential of ASO therapy to prevent and reverse various aspects of the disease.
SCIENCE TRANSLATIONAL MEDICINE
(2021)
Article
Neurosciences
Bang-Sheng Wu, Yi-Jun Ge, Wei Zhang, Shi-Dong Chen, Shi-Tong Xiang, Ya-Ru Zhang, Ya-Nan Ou, Yu-Chao Jiang, Lan Tan, Wei Cheng, John Suckling, Jian-Feng Feng, Jin-Tai Yu, Ying Mao
Summary: In this study, a genome-wide association analysis of cerebellar white matter microstructure was conducted using diffusion tensor imaging data from 25,415 individuals from UK Biobank. The study identified 11 genetic loci and 86 genes associated with cerebellar white matter microstructure. Functional enrichment analysis revealed the involvement of GABAergic neurons and cholinergic pathways. The study also found significant genetic overlap between cerebellar white matter tracts and adjacent brain regions, as well as genetic correlations with movement, cognitive, psychiatric, and cerebrovascular traits. Overall, this study provides important insights into the genetics of cerebellar white matter microstructure and its shared genetic etiology with common brain disorders.
Article
Neurosciences
Carlos Alexandre Gomes, Katharina M. Steiner, Nicolas Ludolph, Tamas Spisak, Thomas M. Ernst, Oliver Mueller, Sophia L. Goricke, Franziska Labrenz, Winfried Ilg, Nikolai Axmacher, Dagmar Timmann
Summary: The study found that cerebellar diseases directly affect the integrity of white matter in the brain and are related to behavioral performance in motor tasks.
HUMAN BRAIN MAPPING
(2021)
Article
Clinical Neurology
Mary Clare McKenna, Rangariroyashe H. Chipika, Stacey Li Hi Shing, Foteini Christidi, Jasmin Lope, Mark A. Doherty, Jennifer C. Hengeveld, Alice Vajda, Russell L. McLaughlin, Orla Hardiman, Siobhan Hutchinson, Peter Bede
Summary: The study reveals that different FTD subtypes are associated with specific cerebellar signatures, with selective involvement of certain lobules rather than global cerebellar atrophy. Significant white matter alterations were also observed in each FTD phenotype, with more focal changes in those with C9 + ALSFTD and svPPA.
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.
Article
Medicine, General & Internal
Sungeun Hwang, Chang-Hyun Park, Regina Eun-Young Kim, Hyeon Jin Kim, Yun Seo Choi, Sol-Ah Kim, Jeong Hyun Yoo, Ki Wha Chung, Byung-Ok Choi, Hyang Woon Lee
Summary: Structural changes were observed in cerebellar white matter in CMT patients with NEFL mutations, while abnormal diffusion tensor imaging findings were found in specific cerebellar regions associated with NEFL and GJB1 mutations. The presence of cerebellar ataxia was linked to cerebellar white matter abnormalities in the NEFL subgroup, highlighting the importance of neuroimaging in detecting these abnormalities in CMT patients.
JOURNAL OF CLINICAL MEDICINE
(2021)
Review
Clinical Neurology
Mykyta Smirnov, Christophe Destrieux, Igor Lima Maldonado
Summary: This review provides a structured presentation of the existing knowledge of the vascularization of the human cerebral white matter from seminal historical studies to the current literature, emphasizing the transition in conceptions of white matter vascularization and the need for further research on deep white matter vascularization, especially regarding the arterial supply of white matter fibre tracts.
Article
Clinical Neurology
Takashi Shiihara, Mio Watanabe, Kengo Moriyama, Mitsugu Uematsu, Kiyoko Sameshima
BRAIN & DEVELOPMENT
(2015)
Article
Clinical Neurology
Masakazu Mimaki, Takashi Shiihara, Mio Watanabe, Kyoko Hirakata, Satoru Sakazume, Akio Ishiguro, Keiko Shimojima, Toshiyuki Yamamoto, Akira Oka, Masashi Mizuguchi
BRAIN & DEVELOPMENT
(2015)
Article
Clinical Neurology
Takashi Shiihara, Mio Watanabe, Kengo Moriyama, Yasuhiro Maruyama, Atsuo Kikuchi, Natsuko Arai-Ichinoi, Mitsugu Uematsu, Kiyoko Sameshima
BRAIN & DEVELOPMENT
(2016)
Article
Genetics & Heredity
Satoshi Narumi, Chikahiko Numakura, Takashi Shiihara, Chizuru Seiwa, Yasuyuki Nozaki, Takanori Yamagata, Mariko Y. Momoi, Yoriko Watanabe, Makoto Yoshino, Toyojiro Matsuishi, Eriko Nishi, Hiroshi Kawame, Tsutomu Akahane, Gen Nishimura, Mitsuru Emi, Tomonobu Hasegawa
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2010)
Article
Clinical Neurology
Mayu Shinohara, Makiko Saitoh, Jun-ichi Takanashi, Hideo Yamanouchi, Masaya Kubota, Tomohide Goto, Masahiro Kikuchi, Takashi Shiihara, Gaku Yamanaka, Masashi Mizuguchi
BRAIN & DEVELOPMENT
(2011)
Article
Clinical Neurology
Shinpei Abe, Akihisa Okumura, Shin-ichiro Hamano, Manabu Tanaka, Takashi Shiihara, Koichi Aizaki, Tomohiko Tsuru, Yasuhisa Toribe, Hiroshi Arai, Toshiaki Shimizu
BRAIN & DEVELOPMENT
(2011)
Article
Clinical Neurology
Yoshinobu Oyazato, Takashi Shiihara, Susumu Kusunoki, Masao Adachi, Noriko Ohnishi, Hiroaki Taniguchi, Atsushi Nishiyama, Aika Watanabe, Mitsuro Kobayashi, Ichiro Kamioka
BRAIN & DEVELOPMENT
(2012)
Article
Clinical Neurology
Takashi Shiihara, Taeko Miyake, Sakiko Izumi, Susumu Sugihara, Mio Watanabe, Jun-ichi Takanashi, Masaya Kubota, Mitsuhiro Kato
BRAIN & DEVELOPMENT
(2014)
Article
Genetics & Heredity
Yoko Narumi, Takashi Shiihara, Hiroshi Yoshihashi, Satoru Sakazume, Marjo S. van der Knaap, Akira Nishimura-Tadaki, Naomichi Matsumoto, Yoshimitsu Fukushima
CLINICAL DYSMORPHOLOGY
(2011)
Article
Clinical Neurology
Mayu Shinohara, Makiko Saitoh, Daisuke Nishizawa, Kazutaka Ikeda, Shinichi Hirose, Jun-ichi Takanashi, Junko Takita, Kenjiro Kikuchi, Masaya Kubota, Gaku Yamanaka, Takashi Shiihara, Akira Kumakura, Masahiro Kikuchi, Mitsuo Toyoshima, Tomohide Goto, Hideo Yamanouchi, Masashi Mizuguchi
Letter
Clinical Neurology
Kengo Moriyama, Yukitoshi Takahashi, Takashi Shiihara
Article
Pediatrics
Takashi Shiihara, Taeko Miyake, Sakiko Izumi, Mio Watanabe, Keiko Kamayachi, Kazuhiko Kodama, Makoto Nabetani, Masako Ikemiyagi, Yoshio Yamaguchi, Noriko Sawaura
PEDIATRICS INTERNATIONAL
(2012)
Article
Clinical Neurology
Kyoko Hazama, Takashi Shiihara, Hiroyuki Tsukagoshi, Takeshi Matsushige, Yuri Dowa, Mio Watanabe
BRAIN & DEVELOPMENT
(2019)
Article
Clinical Neurology
Kyoko Hazama, Takashi Shiihara, Hiroyuki Tsukagoshi, Shunji Hasegawa, Yuri Dowa, Mio Watanabe
BRAIN & DEVELOPMENT
(2017)