Results 71 to 80 of about 141,668 (299)

A Novel KCNA1 Variant in a Patient With Tremor and Autism Spectrum Disorder Causes Mixed LOF/GOF Defects of Kv1.1 Channels

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Variants in KCNA1, encoding the Kv1.1 potassium channel, cause neurological disorders including episodic ataxia and developmental and epileptic encephalopathy. We identified a novel KCNA1 variant (A401T) in a 16‐year‐old patient with autism spectrum disorder, borderline intellectual disability, and tremor, without episodic ataxia or epilepsy ...
Juan Darío Ortigoza‐Escobar, Laura Marti‐Sánchez, Loreto Martorell, Giorgia Dinoi, Antonio Vittorio Buono, Annamaria De Luca, Antonella Liantonio, Paola Imbrici   +7 more
wiley   +1 more source

Self-reported gait unsteadiness in mildly impaired neurological patients: an objective assessment through statistical gait analysis [PDF]

, 2012
Background Self-reported gait unsteadiness is often a problem in neurological patients without any clinical evidence of ataxia, because it leads to reduced activity and limitations in function.
Agostini Valentina, Maria Benedetti, Valentina Agostini, Verusca Gasparroni, Benedetti Maria, Marco Knaflitz, Marco Boschi, Roberto Piperno, Boschi, M., Gasparroni Verusca, M. G. Benedetti, Knaflitz, Marco, Gasparroni, V., R. Piperno, Boschi Marco, Benedetti, M.G., Piperno Roberto, M. Boschi, Knaflitz Marco, V. Gasparroni, Agostini, Valentina, Piperno, R.   +21 more
core   +1 more source

Ablation of TrkB from Enkephalinergic Precursor-Derived Cerebellar Granule Cells Generates Ataxia

Biology
In ataxia disorders, motor incoordination (ataxia) is primarily linked to the dysfunction and degeneration of cerebellar Purkinje cells (PCs). In spinocerebellar ataxia 6 (SCA6), for example, decreased BDNF–TrkB signalling appears to contribute to PC ...
Elena Eliseeva, Mohd Yaseen Malik, Liliana Minichiello   +2 more
doaj   +1 more source

Mutational analysis of ITPR1 in a Taiwanese cohort with cerebellar ataxias.

PLoS ONE, 2017
BackgroundThe inositol 1,4,5-triphosphate (IP3) receptor type 1 gene (ITPR1) encodes the IP3 receptor type 1 (IP3R1), which modulates intracellular calcium homeostasis and signaling. Mutations in ITPR1 have been implicated in inherited cerebellar ataxias.
Cheng-Tsung Hsiao, Yo-Tsen Liu, Yi-Chu Liao, Ting-Yi Hsu, Yi-Chung Lee, Bing-Wen Soong   +5 more
doaj   +1 more source

A Scoping Review and Meta‐Analysis of Proportions of Central Nervous System Manifestations Reported in Patients with Sjögren's Disease

Arthritis Care &Research, Accepted Article.
Objective The objective of this scoping review was to synthesize evidence on the proportion of individuals living with Sjögren's disease who experience central nervous system (CNS) manifestations. Methods We searched MEDLINE (via PubMed) and Embase from 1980 through January 29, 2026, and the ECRI Guidelines Trust from 2020 through January 29, 2026 ...
Arun Varadhachary, Ghaith Noaiseh, Julie Frantsve‐Hawley, Frederick B. Vivino, Jennifer A. McCombe, Shamik Bhattacharyya, E. Sherwood Brown, Andrew R. Carey, Robert Fox, Thomas Grader‐Beck, Janet E. Lewis, Stephen Maitz, Steven Mandel, Astrid Rasmussen, George Sarka, R. Hal Scofield, Daniel J. Wallace, Rochelle Zak, Kristie Cox, Katherine M. Hammitt, Steven Carsons, Nancy Carteron   +21 more
wiley   +1 more source

“A DNA Damage Response (DDR) –independent Role for the Ataxia-Telangiectasia Mutated (ATM) Gene Product" [PDF]

, 2010
Ataxia-Telangiectasia (A-T) is a recessive hereditary syndrome characterized by cerebellar degeneration, telangiectasia, precocious aging, immunodeficiency, cancer predisposition and insulin-resistant diabetes.
Palazzo, Luca
core   +1 more source

Exclusion of CLIC5 as a Candidate Gene and Identification of NEFM as a Possible Novel Gene Correlated With Autosomal Recessive Pure Cerebellar Ataxia in a Highly Consanguineous Family

Molecular Genetics & Genomic Medicine
Background Pure cerebellar ataxia is a neurological disorder characterised by isolated cerebellar dysfunction, arising from either developmental anomalies or progressive degenerative processes. Precise genetic diagnosis remains challenging.
Paolo Enrico Maltese, Gabriele Bonetti, Elena Manara, Benedetta Tanzi, Andrea Bernini, Mark A. Berryman, Soichi Tanda, Corinne Nielsen, Silvia Casagrande, Amanda Ferrero, Salvatore Stano, Riccardo Zuccarino, Andrea Barp, Pietro Chiurazzi, Matteo Bertelli   +14 more
doaj   +1 more source

Mitochondria‐Targeted Nanotherapies in Aging Neurodegenerative Disorders: Emerging Prospects and Clinical Potential

Advanced Healthcare Materials, EarlyView.
Mitochondria‐targeted nanotherapies emerge as a promising strategy for combating aging‐associated neurodegenerative disorders (NDs) by restoring mitochondrial function, reducing oxidative stress, and improving neuronal survival. Recent advances in nanotechnology, therapeutic delivery, and translational research are highlighted, providing insights into ...
Dnyandev G. Gadhave, Ashish B. Jadhav, Nitin B. Waghamode, Shubham Khot, Rajiya Khan, Ravi Hole, Shankar M. Dhobale, Manoj Aswar, Keshav Raj Paudel   +8 more
wiley   +1 more source

Locomotor patterns in cerebellar ataxia [PDF]

Journal of Neurophysiology, 2014
Several studies have demonstrated how cerebellar ataxia (CA) affects gait, resulting in deficits in multijoint coordination and stability. Nevertheless, how lesions of cerebellum influence the locomotor muscle pattern generation is still unclear.
Martino, G, Ivanenko, Y, Serrao, M, Ranavolo, A, d'Avella, A, Draicchio, F, Conte, C, Casali, C, LACQUANITI, FRANCESCO   +8 more
openaire   +4 more sources

The sodium-potassium pump controls the intrinsic firing of the cerebellar Purkinje neuron [PDF]

, 2012
In vitro, cerebellar Purkinje cells can intrinsically fire action potentials in a repeating trimodal or bimodal pattern. The trimodal pattern consists of tonic spiking, bursting, and quiescence.
Mark J. Wall, Daniel A. Press, Feng, Jianfeng, Jianfeng Feng, Forrest, Michael D., Michael D. Forrest, Michael D Forrest, Press, Daniel A., Wall, Mark J., Mark J Wall, Daniel A Press   +10 more
core   +2 more sources