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 +2 more
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Hereditary transthyretin amyloidosis: baseline characteristics of patients in the NEURO-TTR trial [PDF]
, 2018 Background: Hereditary transthyretin (ATTRm) amyloidosis is a rare, progressive and fatal disease with a range of clinical manifestations.Objective: This study comprehensively evaluates disease characteristics in a large, diverse cohort of patients with ...
Ackermann, Elizabeth J. +16 more
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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 +2 more
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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 +6 more
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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.
AZADVARI, Mohaddeseh +2 more
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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 +13 more
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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.
Bruno, Giorgia +7 more
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Pathological classification of equine recurrent laryngeal neuropathy [PDF]
, 2018 Recurrent Laryngeal Neuropathy (RLN) is a highly prevalent and predominantly left‐sided, degenerative disorder of the recurrent laryngeal nerves (RLn) of tall horses, that causes inspiratory stridor at exercise because of intrinsic laryngeal muscle ...
Draper, A C E, Piercy, R J
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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 +10 more
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Hereditary sensory neuropathy type 1-associated deoxysphingolipids cause neurotoxicity, acute calcium handling abnormalities and mitochondrial dysfunction in vitro [PDF]
, 2018 Hereditary sensory neuropathy type 1 (HSN-1) is a peripheral neuropathy most frequently caused by mutations in the SPTLC1 or SPTLC2 genes, which code for two subunits of the enzyme serine palmitoyltransferase (SPT).
Abramov, AY +7 more
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