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Charcot-Marie-Tooth Disease (Hereditary Motor Sensory Neuropathies) and Hereditary Sensory and Autonomic Neuropathies

The Neurologist, 2004
Since the description of Charcot-Marie-Tooth disease over a century ago. it has now been recognized that these conditions are not caused by generalized metabolic defects but rather have various discrete genetic origins. These disorders can also have variable phenotypes due to dysfunction of peripheral nerve axons or their myelin due to the genetic ...
Tulio, Bertorini   +2 more
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Recent advances in hereditary sensory and autonomic neuropathies

Current Opinion in Neurology, 2006
This review summarizes the genetic advances of hereditary sensory neuropathies and hereditary sensory and autonomic neuropathies, and provides information on phenotype-genotype correlation and on possible underlying pathomechanisms.Hereditary sensory neuropathies, also known as hereditary sensory and autonomic neuropathies, are a clinically and ...
Verhoeven, Kristien   +5 more
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Mechanisms of disease in hereditary sensory and autonomic neuropathies

Nature Reviews Neurology, 2012
Hereditary 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
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Hereditary Sensory and Autonomic Neuropathies: Adding More to the Classification

Current Neurology and Neuroscience Reports, 2019
Hereditary sensory and autonomic neuropathies (HSANs) are a clinically heterogeneous group of inherited neuropathies featuring prominent sensory and autonomic involvement. Classification of HSAN is based on mode of inheritance, genetic mutation, and phenotype.
Coreen, Schwartzlow, Mohamed, Kazamel
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Hereditary Sensory and Autonomic Neuropathy

Neurology India, 2022
Objectives: Hereditary sensory and autonomic neuropathy (HSAN) is a group of rare disorders affecting the sensory and autonomic neurons. Herein, we describe the clinical and genetic profile of six children with HSAN. Methods: Hospital records of six children diagnosed with HSAN over
Renu, Suthar   +8 more
openaire   +2 more sources

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