Results 201 to 210 of about 9,576 (247)
Some of the next articles are maybe not open access.
Phenotypic features of RETREG1‐related hereditary sensory autonomic neuropathy
Journal of the Peripheral Nervous System, 2023AbstractBackground and AimsHomozygous loss‐of‐function mutations in the RETREG1 gene result in Hereditary Sensory Autonomic Neuropathy Type 2B. Clinical features include pain loss, autonomic disturbances, and upper motor neuron features.MethodsWe evaluated the clinical and genetic features of seven patients from four families with RETREG1 variants ...
Çakar, Arman +4 more
openaire +2 more sources
Hereditary Sensory and Autonomic Neuropathies
2015The hereditary sensory and autonomic neuropathies (HSAN) are a group of rare, clinically and genetically heterogeneous disorders. A numerical classification (type I to V) based on clinical phenotype and pattern of inheritance is widely used but additional entities have been described.
Felicia B. Axelrod, Horacio Kaufmann
openaire +1 more source
Hereditary sensory and autonomic neuropathies
2013Hereditary sensory and autonomic neuropathies (HSN/HSAN) are clinically and genetically heterogeneous disorders of the peripheral nervous system that predominantly affect the sensory and autonomic neurons. Hallmark features comprise not only prominent sensory signs and symptoms and ulcerative mutilations but also variable autonomic and motor ...
openaire +2 more sources
Molecular pathogenesis of hereditary motor, sensory and autonomic neuropathies
Current Opinion in Neurology, 2001The hereditary motor, sensory and autonomic neuropathies are a heterogeneous group of neurological diseases. The classification of such is presently in a state of change. The original classification system was based on clinical findings whose limitations are being unfurled with increasing insights into the molecular basis of these disorders.
C L, Bennett, P F, Chance
openaire +2 more sources
Hereditary Sensory and Autonomic Neuropathies
2001Abstract The hereditary sensory and autonomic neuropathies (HSAN) represent a rare group of disorders. A classification of the conditions belonging to this group has been in evolution for decades. At present, the categorization of patients is based on the mode of inheritance, clinical manifestations, and electrodiagnostic and ...
openaire +1 more source
Mechanisms of disease in hereditary sensory and autonomic neuropathies
Nature Reviews Neurology, 2012Hereditary sensory and autonomic neuropathies (HSANs) are a clinically and genetically heterogeneous group of disorders of the PNS. Progressive degeneration, predominantly of sensory and autonomic neurons, is the main pathological feature in patients with HSAN, and causes prominent sensory loss and ulcerative mutilations in combination with variable ...
Rotthier, Annelies +3 more
openaire +3 more sources
Hereditary sensory and autonomic neuropathy type I (Thévenard's disease)
Skeletal Radiology, 1996Radiographic and MR findings of two cases of hereditary sensory and autonomic neuropathy type I are reported. This rare disease has a non-specific radiographic and MR appearance. Differential diagnosis includes other types of hereditary and acquired sensory neuropathies affecting small myelinated and unmyelinated nerve fibers, as well as vascular ...
Allmann, Karl-Heinz +3 more
openaire +3 more sources
Hereditary sensory and autonomic neuropathy type IV orthopaedic complications
Journal of Pediatric Orthopaedics B, 2009Painless fractures with delayed healing or abnormal callus formation require exclusion of a systemic disorder. We report a 9-year-old girl with hereditary sensory and autonomic neuropathy type IV who developed bone changes in the hind foot after a protracted healing of a tibia fracture. Osteomyelitis was considered as a possible cause of destruction of
Ivo, Marik +3 more
openaire +2 more sources
Hereditary Sensory and Autonomic Neuropathy With Autonomic Crises
Journal of Child Neurology, 2011Hereditary sensory and autonomic neuropathies have different phenotypes. We report 2 cousins with differing clinical courses of a hereditary sensory and autonomic neuropathy. The progressive disease in case 1 is dominated by loss of sensation, autonomic crises, and pain.
Anne, Koy +3 more
openaire +2 more sources
Beyond neuropathy in hereditary sensory and autonomic neuropathy type V: cognitive evaluation
European Journal of Neurology, 2008Background and purpose: Hereditary sensory and autonomic neuropathy (HSAN) type V is a very rare disorder. It is characterized by the absence of thermal and mechanical pain perception caused by decreased number of small diameter neurons in peripheral nerves.
D C, de Andrade +10 more
openaire +2 more sources