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
doaj +4 more sources
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
doaj +3 more sources
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
doaj +2 more sources
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
doaj +2 more sources
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
doaj +2 more sources
Hereditary sensory and autonomic neuropathy type 1 (HSANI) caused by a novel mutation in SPTLC2 [PDF]
, 2013 To describe the clinical and neurophysiologic phenotype of a family with hereditary sensory and autonomic neuropathy type 1 (HSANI) due to a novel mutation in SPTLC2 and to characterize the biochemical properties of this ...
Sinéad M. Murphy +10 more
openalex +4 more sources
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
doaj +2 more sources
The coexistence of a novel WNK1 variant and a copy number variation causes hereditary sensory and autonomic neuropathy type IIA [PDF]
BMC Medical Genetics, 2019 Background Hereditary sensory and autonomic neuropathy (HSAN) type II is a group of extremely rare autosomal recessive neurological disorders with heterogeneous clinical and genetic characteristics.
James Jiqi Wang, Bo Yu, Zongzhe Li
doaj +2 more sources
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
doaj +4 more sources
Hereditary sensory and autonomic neuropathy in a family of mixed breed dogs associated with a novel RETREG1 variant [PDF]
Journal of Veterinary Internal Medicine, 2021 Background Hereditary sensory and autonomic neuropathies (HSANs) are a group of genetic disorders affecting the peripheral nervous system. Two different associated variants have been identified in dogs: 1 in Border Collies and 1 in Spaniels and Pointers.
Rodrigo Gutierrez‐Quintana +8 more
doaj +2 more sources