Results 51 to 60 of about 4,841 (226)

The Case of a 37‐Year‐Old Woman Presenting With Subacute Weakness and Paresthesias

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Acute intermittent porphyria (AIP) is a rare metabolic disorder that may present with subacute neuropathy and systemic symptoms, often leading to diagnostic delay. We report a 37‐year‐old woman with eight weeks of progressive bilateral upper extremity weakness and paresthesias, followed by lower extremity involvement and falls, in the setting ...
Peter Pacut, Joy Cannon, Neel Dixit, Qihua Fan   +3 more
wiley   +1 more source

Peripheral neuropathies in childhood: a neuropathological approach Neuropatias periféricas na infância: uma abordagem neuropatológica

Arquivos de Neuro-Psiquiatria, 1996
Peripheral neuropathies affect children more often than the young and middle age adults, but less frequently than the elderly. They differ from those in the adults because of the high incidence of hereditary neuropathies, including those associated with ...
Leila Chimelli
doaj   +1 more source

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

Corino de Andrade disease: mechanisms and impact on reproduction [PDF]

, 2017
Familial amyloid polyneuropathy was first described by Corino de Andrade in 1952 in Northern Portugal. It is a fatal autosomal dominant neurodegenerative disorder characterized by a progression of neurologic symptoms, beginning early in the reproductive ...
Barros, A., Coelho, T., Lopes, R., Sousa, M.   +3 more
core   +1 more source

Diffusion Spectrum Imaging Maps Early Axonal Loss and a Unique Progressive Signal in Neuronal Intranuclear Inclusion Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To delineate specific in vivo white matter pathology in neuronal intranuclear inclusion disease (NIID) using diffusion spectrum imaging (DSI) and define its clinical relevance. Methods DSI was performed on 42 NIID patients and 38 matched controls.
Kaiyan Jiang, Yixiu Pei, Xiaobao Hu, Ying Xiong, Fang Wang, Yanyan Yu, Min Zhu, Dandan Tan, Meihong Zhou, Daojun Hong, Fuqing Zhou   +10 more
wiley   +1 more source

The neuroinflammatory role of Schwann cells in disease

Neurobiology of Disease, 2013
Peripheral neuropathies are associated with a variety of clinical symptoms ranging from motor and sensory symptoms to autonomic dysfunction. The primary disease causes for peripheral nerve disorders are also very heterogeneous, including genetic causes ...
Elke Ydens, Guillaume Lornet, Veerle Smits, Sofie Goethals, Vincent Timmerman, Sophie Janssens   +5 more
doaj   +1 more source

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

Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies [PDF]

, 2017
Hereditary neuropathies form a heterogeneous group of disorders for which over 40 causal genes have been identified to date. Recently, dominant mutations in the transient receptor potential vanilloid 4 gene were found to be associated with three distinct
Auer-Grumbach, Michaela, Baets, Jonathan, Barisic, Nina, Berciano, José, Boltshauser, Eugen, Crosby, Andrew H., Fischbeck, Kenneth H., Garcia, Antonio, Gaudet, Rachelle, Hilton-Jones, David, Houlden, Henry, Jonghe, Peter De, Jordanova, Albena, Landouré, Guida, Lopez-Laso, Eduardo, Ludlow, Christy L., McEntagart, Meriel, Merlini, Luciano, Reilly, Mary M., Shaw, Christopher E., Sumner, Charlotte J., Timmerman, Vincent, Zimoń, Magdalena   +22 more
core  

Sleep and Sleep Disorders in Rare Hereditary Diseases: A Reminder for the Pediatrician, Pediatric and Adult Neurologist, General Practitioner, and Sleep Specialist [PDF]

, 2014
Although sleep abnormalities in general and sleep-related breathing disorders (SBD) in particular are quite common in healthy children; their presence is notably under-recognized.
Arie Oksenberg, Natan Gadoth
core   +1 more source