Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies [PDF]
Brain, 2023 Lischka A, Eggermann K, Record CJ, et al. Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies. Brain.
Angelika Lampert +2 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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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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Pregnancy in hereditary sensory and autonomic neuropathy type V: A case report and literature review
Taiwanese Journal of Obstetrics & Gynecology, 2022 Objective: Hereditary sensory and autonomic neuropathies (HSANs) are a clinical heterogenous group of inherited neuropathies featuring prominent sensory and autonomic involvement. We report on the management of pregnancy and delivery in a woman with HSAN
Daisuke Higeta +5 more
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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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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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Role of skin punch biopsy in diagnosis of small fiber neuropathy-A review for the neuropathologist
Indian Journal of Pathology and Microbiology, 2022 Over the last three decades, skin punch biopsy has become the gold standard for diagnosis of small fiber neuropathies, including autonomic neuropathies commonly seen in diabetics, patients with HIV, and children with hereditary sensory autonomic ...
Deepti Narasimhaiah, Anita Mahadevan
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