Results 41 to 50 of about 3,106 (209)

SCN9A variant in a family of mixed breed dogs with congenital insensitivity to pain

Journal of Veterinary Internal Medicine, 2023
Background Congenital insensitivity to pain (CIP) and hereditary sensory and autonomic neuropathies (HSANs) are a rare group of genetic disorders causing inability to feel pain.
Rodrigo Gutierrez‐Quintana, Matthias Christen, Kiterie M. E. Faller, Julien Guevar, Vidhya Jagannathan, Tosso Leeb   +5 more
doaj   +1 more source

F-waves persistence in peripheral sensory syndromes

Arquivos de Neuro-Psiquiatria, 2023
Background The distinction between sensory neuronopathies (SN), which is by definition purely sensory, and sensory polyneuropathies (SP) and sensory multineuropathies (SM) is important for etiologic investigation and prognosis estimation ...
Fabricio Diniz de Lima, Alberto Rolim Muro Martinez, Gabriel da Silva Schmitt, Andrea Fernandes Eloy da Costa França, Paulo Eduardo Neves Ferreira Velho, Juliana Akita, José Antônio Garbino, Anamarli Nucci, Marcondes Cavalcante França Jr   +8 more
doaj   +1 more source

A Printed Hydrogel Hybrid Electronic System With Thermoresponsive Adhesion for Neurophysiological Monitoring

Advanced Science, EarlyView.
This work develops a soft hybrid electronic system with printed thermoresponsive hydrogel electrodes, which enables high‐fidelity neural signal acquisition and stimulation. The system precisely assesses median and ulnar nerve injuries in clinical cases, realizing accurate diagnosis of neural impairment while ensuring customized adhesion regulation ...
Bo Pang, Ganguang Yang, Jiacheng Wen, Hangyu Gong, Caixin Gong, Yuqi Qiu, Zhixin Wang, Qingyang Zheng, Sen Zhou, Tianzhao Bu, Jia Tian, Zhouping Yin, Yutian Liu, Hao Wu   +13 more
wiley   +1 more source

Familial Dysautonomia: Mechanisms and Models

Genetics and Molecular Biology
Hereditary Sensory and Autonomic Neuropathies (HSANs) compose a heterogeneous group of genetic disorders characterized by sensory and autonomic dysfunctions.
Paula Dietrich, Ioannis Dragatsis
doaj   +3 more sources

A Point Mutation in a lincRNA Upstream of GDNF Is Associated to a Canine Insensitivity to Pain: A Spontaneous Model for Human Sensory Neuropathies. [PDF]

PLoS Genetics, 2016
Human Hereditary Sensory Autonomic Neuropathies (HSANs) are characterized by insensitivity to pain, sometimes combined with self-mutilation. Strikingly, several sporting dog breeds are particularly affected by such neuropathies.
Jocelyn Plassais, Laetitia Lagoutte, Solenne Correard, Manon Paradis, Eric Guaguère, Benoit Hédan, Alix Pommier, Nadine Botherel, Marie-Christine Cadiergues, Philippe Pilorge, David Silversides, Maud Bizot, Mark Samuels, Carme Arnan, Rory Johnson, Christophe Hitte, Gilles Salbert, Agnès Méreau, Pascale Quignon, Thomas Derrien, Catherine André   +20 more
doaj   +1 more source

Transient Sleep Deprivation Induces Persistent Auditory Neuropathy via ROS‐Initiated Neuroinflammation and BK Channel Suppression

Advanced Science, EarlyView.
Sleep disturbance severity closely tracks hearing loss in a clinical cohort, yet the mechanistic link remains unclear. Acute sleep deprivation is shown to trigger transient cochlear oxidative stress that switches into a self‐sustaining neuroinflammatory state, suppressing BK channels and causing irreversible synaptopathy.
Dan Chen, Ying Ma, Lixuan Huang, Xin Chen, Fanliang Kong, Zhenzhou Qian, Mingyue Guan, Xinlin Wang, Yanyan Yang, Shasha Zhang, Peng Li, Renjie Chai   +11 more
wiley   +1 more source

Genetic Variants of Na+,K+‐ATPase Associated With Neurological Disorders: A Systematic Review

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Neurological disorders encompass a wide range of severe symptoms and manifestations, many of which are associated with genetic variants that affect ionic homeostasis. Na+,K+‐ATPase, a transmembrane enzyme responsible for maintaining electrochemical gradients in cells, plays a crucial role in neuronal excitability and brain function.
Giovana Kummer da Rosa, Leandro Rodrigo Ribeiro, Jéssica Lorena Bariviera, Mauro Schneider Oliveira   +3 more
wiley   +1 more source

The coexistence of a novel WNK1 variant and a copy number variation causes hereditary sensory and autonomic neuropathy type IIA

BMC Medical Genetics, 2019
Background Hereditary sensory and autonomic neuropathy (HSAN) type II is a group of extremely rare autosomal recessive neurological disorders with heterogeneous clinical and genetic characteristics.
James Jiqi Wang, Bo Yu, Zongzhe Li
doaj   +1 more source

Establishing Sensory Neurons as Therapeutic Targets in Peripheral Neuropathy Driven by Polyglutamine Expanded Murine ATXN3

Annals of Neurology, EarlyView.
Repeat expansion disorders frequently involve peripheral neuropathy, yet mechanisms remain unclear. Using a spinocerebellar ataxia type 3 (SCA3) Knock‐In Atxn3Q300/Q6, we identify progressive sensorimotor deficits, peripheral nerve pathology, and dorsal root ganglia RNA splicing dysregulation.
Juan P. Mato, John M. Hayes, Jacen Emerson, Maeha Sridharan, Toluwani Adelaja, Arsal Naeem, Alexandra F. Putka, Hayley S. McLoughlin   +7 more
wiley   +1 more source

Hereditary Neuropathies: Update 2017

, 2017
Hereditary neuropathy is an umbrella term for a group of nonsyndromic conditions with a prevalence of approximately 1:2,500. In addition to the most frequent form, Charcot–Marie–Tooth's disease (CMT, or hereditary motor and sensory neuropathy), there are
Michaela Auer-Grumbach, Sabine Rudnik-Schöneborn, Jan Senderek   +2 more
core   +1 more source