Disease mechanisms in hereditary sensory and autonomic neuropathies
Neurobiology of Disease, 2006 Inherited peripheral neuropathies are common monogenically inherited diseases of the peripheral nervous system. In the most common variant, i.e., the hereditary motor and sensory neuropathies, both motor and sensory nerves are affected.
Nathalie Verpoorten +2 more
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Hereditary sensory and autonomic neuropathies: types II, III, and IV [PDF]
Orphanet Journal of Rare Diseases, 2007 The hereditary sensory and autonomic neuropathies (HSAN) encompass a number of inherited disorders that are associated with sensory dysfunction (depressed reflexes, altered pain and temperature perception) and varying degrees of autonomic dysfunction ...
Axelrod Felicia B +1 more
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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. So far, disease-associated mutations have been identified in seven genes: two genes for autosomal dominant (SPTLC1 and ...
Rotthier A +14 more
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Novel Compound Heterozygous DST Variants Causing Hereditary Sensory and Autonomic Neuropathies VI in Twins of a Chinese Family [PDF]
Frontiers in Genetics, 2020 Background: Hereditary sensory and autonomic neuropathies (HSANs) are a rare and severe group of sensory axonal neuropathies. HSANs have been classified into eight groups based on mode of inheritance, clinical features, and the involved genes.
Jie-Yuan Jin +11 more
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V144D Mutation of SPTLC1 Can Present with Both Painful and Painless Phenotypes in Hereditary Sensory and Autonomic Neuropathies Type I [PDF]
Case Reports in Genetics, 2018 Hereditary sensory and autonomic neuropathy type I (HSAN I) is an autosomal dominant disease characterized by distal sensory loss, pain insensitivity, and autonomic disturbances.
Kwo Wei David Ho, Nivedita U. Jerath
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Hereditary Sensory and Autonomic Neuropathy Type 2: A Case Report and a Review of the Literature [PDF]
Brain SciencesWe report a case of hereditary sensory and autonomic neuropathy presenting with childhood-onset symmetric distally predominant limb hypoesthesia to tactile, thermal, and painful stimuli.
Cosmanna Ragucci +9 more
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A Brief Review of Inherited Neuropathies: A Perspective from Saudi Arabia [PDF]
Brain SciencesInherited neuropathies are a heterogeneous group of disorders that affect the peripheral nervous system, leading to motor, sensory, and autonomic dysfunction.
Ahmed K. Bamaga +2 more
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Disruption of afferent neural circuits leads to arrhythmia in the animal model of hereditary sensory and autonomic neuropathy 6 [PDF]
Frontiers in Neural CircuitsHereditary sensory and autonomic neuropathies (HSANs) are a group of recessive genetic disorders affecting the sensory and autonomic components of the peripheral nervous system (PNS). Compared with somatosensory dysfunctions, the pathogenesis of visceral
Nozomu Yoshioka +13 more
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Oral Rehabilitation in Patient With Hereditary Sensory and Autonomic Neuropathy (HSAN) Type V: Clinical Report [PDF]
Case Reports in DentistryHereditary sensory and autonomic neuropathies (HSANs) are rare inheritable syndromes of unknown etiology. They typically appear in early childhood and are categorized into six different types based on their symptoms.
Sana Lala, Ammar Almustafa
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The neuroimmune axis and chronic pain disorders [PDF]
iScienceSummary: Both the nervous system and the immune system alert and protect the body against pathogen invasion and damage, but the extent of their interactions have only truly been elaborated in the past few decades.
Rebecca A. Feenstra +2 more
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