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Verhoeven, K; Timmerman, V; Mauko, B; Pieber, TR; De Jonghe, P; Auer-Grumbach, M.
Recent advances in hereditary sensory and autonomic neuropathies.
CURR OPIN NEUROL. 2006; 19(5): 474-480. Doi: 10.1097/01.wco.0000245370.82317.f6
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Co-authors Med Uni Graz: Auer-Grumbach Michaela; Pieber Thomas; Rohkamm Barbara
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Abstract:: PURPOSE OF REVIEW: 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. RECENT FINDINGS: Hereditary sensory neuropathies, also known as hereditary sensory and autonomic neuropathies, are a clinically and genetically heterogeneous group of disorders. These disorders are characterized by prominent sensory loss with acro-mutilating complications and a variable degree of motor and autonomic disturbances. Based on age at onset, clinical features and mode of inheritance, these disorders have originally been subdivided into five types. The identification of eight loci and six disease-causing genes for this group of disorders, however, has shown that this present classification has to be refined. SUMMARY: This review will discuss each of the different loci and genes of these disorders, showing glimpses into a possible underlying pathomechanism leading to the degeneration of sensory and autonomic neurons.
Find related publications in this database (using NLM MeSH Indexing): Autonomic Nervous System Diseases - geneticsAutonomic Nervous System Diseases - physiopathology; Hereditary Sensory and Autonomic Neuropathies - geneticsHereditary Sensory and Autonomic Neuropathies - physiopathology; Humans -; Nerve Growth Factor - genetics; Receptor, trkA - genetics; Serine C-Palmitoyltransferase - genetics; rab GTP-Binding Proteins - genetics
Find related publications in this database (Keywords): congenital insensitivity to pain and anhidrosis; CMT2B; hereditary sensory and autonomic neuropathy