Results 21 to 30 of about 3,106 (209)

Expanding the spectrum of SPTLC1-related disorders beyond hereditary sensory and autonomic neuropathies: a novel case of the distinct "S331 syndrome" [PDF]

, 2020
Hereditary sensory and autonomic neuropathies (HSAN) encompass a group of peripheral nervous system disorders characterized by remarkable heterogeneity from a clinical and genetic point of view.
Giorgia Bruno, Mario Fratta, Colavito, Davide, Casertano, Sara, Sampaolo, Simone, Rossi, Fabiana, Fratta, Mario, Sara Casertano, Davide Colavito, Fabiana Rossi, Bruno, Giorgia, Oliva, Mariano, Gianfranco Puoti, Puoti, Gianfranco, Mariano Oliva, Simone Sampaolo   +15 more
core   +1 more source

Hereditary autonomic neuropathy of the oral cavity and its management: A case report [PDF]

, 2022
Hereditary sensory and autonomic neuropathies (HSAN) are rare genetic disorders that often manifest during childhood in the form of absence of pain sensation or self-mutilation.
Esmaeilzadeh, Niloofar, Ardakani, Hossein Shojaaldini, Ashrafi, Mahmoud Reza, Seraj, Bahman, aref, parissa   +4 more
core   +1 more source

Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation. [PDF]

Brain, 2009
Hereditary sensory and autonomic neuropathies (HSAN) are clinically and genetically heterogeneous disorders characterized by axonal atrophy and degeneration, exclusively or predominantly affecting the sensory and autonomic neurons.
Rotthier A, Baets J, De Vriendt E, Jacobs A, Auer-Grumbach M, Lévy N, Bonello-Palot N, Kilic SS, Weis J, Nascimento A, Swinkels M, Kruyt MC, Jordanova A, De Jonghe P, Timmerman V.   +14 more
europepmc   +2 more sources

Peripheral neuropathies of childhood [PDF]

, 2009
Includes synopsis.Incldues bibliographical references (p. 195-220).Peripheral nerve disease was described by Galen (AD 130-200) over a thousand years ago.(3) Detailed anatomical illustrations were documented by Andreas Vesalius in his major work 'De ...
Wilmshurst, Jo
core   +1 more source

Congenital insensitivity to pain: Case report of a rare entity

Indian Journal of Paediatric Dermatology, 2018
Hereditary sensory and autonomic neuropathies (HSANs) are a group of disorders characterized by insensitivity to noxious stimuli and autonomic dysfunction, associated with pathological abnormalities of the peripheral nerves.
Swati Dahiya, Kondajji Ramchandra Vijayalakshmi, Mubeen Khan   +2 more
doaj   +1 more source

Syndrome in question [PDF]

Anais Brasileiros de Dermatologia, 2016
Ross syndrome is a rare disease characterized by peripheral nervous system dysautonomia with selective degeneration of cholinergic fibers. It is composed by the triad of unilateral or bilateral segmental anhidrosis, deep hyporeflexia and Holmes-Adie's ...
Monique Coelho Dalapicola, John Verrinder Veasey, Rute Facchini Lellis   +2 more
doaj   +1 more source

Hereditary Sensory and Autonomic Neuropathy Type IV in 9 Year Old Boy: A Case Report [PDF]

, 2016
How to Cite This Article: Azadvari M, Emami Razavi SZ, Kazemi Sh. Hereditary Sensory and Autonomic Neuropathy Type IV in 9 Year Old Boy: A Case Report. Iran J Child Neurol.
KAZEMI, Shahrbanoo, EMAMI RAZAVI, Seyedeh Zahra, AZADVARI, Mohaddeseh   +2 more
core   +1 more source

Pathophysiology of Nociception and Rare Genetic Disorders with Increased Pain Threshold or Pain Insensitivity

Pathophysiology, 2022
Pain and nociception are different phenomena. Nociception is the result of complex activity in sensory pathways. On the other hand, pain is the effect of interactions between nociceptive processes, and cognition, emotions, as well as the social context ...
Marco Cascella, Maria Rosaria Muzio, Federica Monaco, Davide Nocerino, Alessandro Ottaiano, Francesco Perri, Massimo Antonio Innamorato   +6 more
doaj   +1 more source

Mutations in the Heme Exporter FLVCR1 Cause Sensory Neurodegeneration with Loss of Pain Perception. [PDF]

PLoS Genetics, 2016
Pain is necessary to alert us to actual or potential tissue damage. Specialized nerve cells in the body periphery, so called nociceptors, are fundamental to mediate pain perception and humans without pain perception are at permanent risk for injuries ...
Deborah Chiabrando, Marco Castori, Maja di Rocco, Martin Ungelenk, Sebastian Gießelmann, Matteo Di Capua, Annalisa Madeo, Paola Grammatico, Sophie Bartsch, Christian A Hübner, Fiorella Altruda, Lorenzo Silengo, Emanuela Tolosano, Ingo Kurth   +13 more
doaj   +1 more source

Exome Sequencing: Mutilating Sensory Neuropathy with Spastic Paraplegia due to a Mutation in FAM134B Gene

Case Reports in Genetics, 2018
Hereditary sensory and autonomic neuropathies (HSANs) are a clinically and genetically heterogeneous group of disorders involving various sensory and autonomic dysfunctions.
Salma M. Wakil, Dorota Monies, Samya Hagos, Fahad Al-Ajlan, Josef Finsterer, Aisha Al Qahtani, Khushnooda Ramzan, Rawan Al Humaidy, Mohamed A. Al-Muhaizea, Brian Meyer, Saeed A. Bohlega   +10 more
doaj   +1 more source