Results 71 to 80 of about 43,317 (209)

Ataxic phenotype with altered CaV3.1 channel property in a mouse model for spinocerebellar ataxia 42

Neurobiology of Disease, 2019
Spinocerebellar ataxia 42 (SCA42) is a neurodegenerative disorder recently shown to be caused by c.5144G > A (p.Arg1715His) mutation in CACNA1G, which encodes the T-type voltage-gated calcium channel CaV3.1. Here, we describe a large Japanese family with
Shunta Hashiguchi, Hiroshi Doi, Misako Kunii, Yukihiro Nakamura, Misa Shimuta, Etsuko Suzuki, Shigeru Koyano, Masaki Okubo, Hitaru Kishida, Masaaki Shiina, Kazuhiro Ogata, Fumiko Hirashima, Yukichi Inoue, Shun Kubota, Noriko Hayashi, Haruko Nakamura, Keita Takahashi, Atsuko Katsumoto, Mikiko Tada, Kenichi Tanaka, Toshikuni Sasaoka, Satoko Miyatake, Noriko Miyake, Hirotomo Saitsu, Nozomu Sato, Kokoro Ozaki, Kiyobumi Ohta, Takanori Yokota, Hidehiro Mizusawa, Jun Mitsui, Hiroyuki Ishiura, Jun Yoshimura, Shinichi Morishita, Shoji Tsuji, Hideyuki Takeuchi, Kinya Ishikawa, Naomichi Matsumoto, Taro Ishikawa, Fumiaki Tanaka   +38 more
doaj   +1 more source

Distinct Brain Drivers and Shared Cerebello–Cortical Input in ADCY5 and SGCE Hyperkinetic Movements

Movement Disorders, EarlyView.
Resting‐state fMRI and effective connectivity revealed distinct cerebellar–basal ganglia–cortical interactions in ADCY5 (MxMD‐ADCY5) and SGCE (MYC/DYT‐SGCE) related movement disorders. The cerebellum modulated cortex directly in MYC/DYT‐SGCE, but indirectly via basal ganglia‐cerebellar projections in MxMD‐ADCY5, which also showed reduced subthalamic ...
Clément Tarrano, Cécile Galléa, Asya Ekmen, Cécile Delorme, Eavan M. McGovern, Quentin Salardaine, Lina Daghsen, Manon Gomes, Vanessa Brochard, Eoin Mulroy, Kailash P. Bhatia, Carlo Fusco, Miryam Carecchio, Norbert Brüggemann, Alexander Münchau, Victoria Gonzalez, Diane Doummar, Christine Tranchant, Mathieu Anheim, Philippe Damier, Florence Riant, Mohamed Doulazmi, Agathe Roubertie, Caroline Dubacq, Oriane Trouillard, Romain Valabregue, Mélanie Didier, Benoit Beranger, Pierre Pouget, Marie Vidailhet, Sabine Meunier, Aurélie Méneret, Yulia Worbe, Emmanuel Roze   +33 more
wiley   +1 more source

Purkinje cell models: past, present and future

Frontiers in Computational Neuroscience
The investigation of the dynamics of Purkinje cell (PC) activity is crucial to unravel the role of the cerebellum in motor control, learning and cognitive processes. Within the cerebellar cortex (CC), these neurons receive all the incoming sensory and motor information, transform it and generate the entire cerebellar output.
Elías Mateo Fernández Santoro, Arun Karim, Pascal Warnaar, Pascal Warnaar, Chris I. De Zeeuw, Chris I. De Zeeuw, Aleksandra Badura, Mario Negrello   +7 more
openaire   +4 more sources

Driving Cerebellar Theta Oscillations Interferes With Voluntary Neck Movements in Cervical Dystonia

Movement Disorders, EarlyView.
Abstract Background Cervical dystonia (CD) is a movement disorder with a complex pathophysiology, including cerebellar abnormalities. Transcranial alternating current stimulation (tACS), a noninvasive neuromodulation technique capable of entraining brain oscillations, can transiently modulate neuronal activity and enhance resonant rhythms.
Davide Costa, Andrea Guerra, Daniele Birreci, Massimiliano Passaretti, Martina De Riggi, Anna Sofia Grandolfo, Valentina D'Onofrio, Luca Angelini, Giulia Paparella, Matteo Bologna   +9 more
wiley   +1 more source

Purkinje cell–specific deficiency in SEL1L-HRD1 endoplasmic reticulum–associated degradation causes progressive cerebellar ataxia in mice

JCI Insight
Recent studies have identified multiple genetic variants of SEL1L-HRD1 endoplasmic reticulum–associated degradation (ERAD) in humans with neurodevelopmental disorders and locomotor dysfunctions, including ataxia.
Mauricio Torres, Brent Pederson, Hui Wang, Liangguang Leo Lin, Huilun Helen Wang, Amara Bugarin-Lapuz, Zhen Zhao, Ling Qi   +7 more
doaj   +1 more source

Expanded ATXN3 CAG Repeat is Stable in Human Purkinje Cells

Movement Disorders, EarlyView.
Abstract Background Spinocerebellar ataxia type 3 (SCA3) is a neurodegenerative disorder caused by an abnormally long polyglutamine‐encoding CAG repeat in the ATXN3 gene. Objectives We aimed to determine whether somatic expansion of the mutant ATXN3 (mATXN3) CAG repeat is present in the output cell of the cerebellar cortex, the Purkinje cell (PC), in ...
Hasnahana Chetia, Laura Kus, Erika Sipos, Nathaniel Heintz, Kert Mätlik   +4 more
wiley   +1 more source

Biosynthesis and biological action of pineal allopregnanolone

Frontiers in Cellular Neuroscience, 2014
The pineal gland transduces photoperiodic changes to the neuroendocrine system by rhythmic secretion of melatonin. We recently provided new evidence that the pineal gland is a major neurosteroidogenic organ and actively produces a variety of ...
Kazuyoshi eTsutsui, Shogo eHaraguchi
doaj   +1 more source

The oscillatory response of the electroretinogram and neuronal adaptation

Acta Ophthalmologica, EarlyView.
Abstract After more than 50 years, there still remains a challenge and an interest to know more as well as extend and deepen our understanding of the small rapid wavelets, the oscillatory potentials (OPs), of the electroretinogram (ERG) and the neuronal adaptation of the retina.
Lillemor Wachtmeister, Anders Eklund
wiley   +1 more source

Human brain matters: Navigating the neuropathology of COVID‐19

Brain Pathology, EarlyView.
Severe COVID‐19 is associated with vascular dysregulation and chronic neuroinflammation, leading to axonal injury and neurodegeneration. In long COVID or PASC, persistent alterations in neuroimaging and biofluid biomarkers reflect ongoing neuronal damage and neuroinflammation, contributing to long‐term neurological symptoms including fatigue, cognitive
Juliana M. Nieuwland, Angelica Scaramuzza, Marianna Bugiani, Wilma D. J. van de Berg, Jinte Middeldorp   +4 more
wiley   +1 more source

Establishment of topographic circuit zones in the cerebellum of scrambler mutant mice

Frontiers in Neural Circuits, 2013
The cerebellum is organized into zonal circuits that are thought to regulate ongoing motor behavior. Recent studies suggest that neuronal birthdates, gene expression patterning, and apoptosis control zone formation.
Stacey L Reeber, Courtney A. Loeschel, Amanda eFranklin, Roy V Sillitoe   +3 more
doaj   +1 more source