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Disease mechanisms in hereditary sensory and autonomic neuropathies.
Neurobiol Dis. 2006 Feb; 21(2):247-55.ND

Abstract

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. In contrast, sensory abnormalities predominate or are exclusively present in hereditary sensory and autonomic neuropathies (HSAN). HSAN are clinically and genetically heterogeneous and are subdivided according to mode of inheritance, age of onset and clinical evolution. In recent years, 6 disease-causing genes have been identified for autosomal dominant and recessive HSAN. However, vesicular transport and axonal trafficking seem important common pathways leading to degeneration of sensory and autonomic neurons. This review discusses the HSAN-related genes and their biological role in the disease mechanisms leading to HSAN.

Authors+Show Affiliations

Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology, Institute Born-Bunge, University of Antwerp, Universiteitsplein 1, B-2610 Antwerpen, Belgium.No affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Review

Language

eng

PubMed ID

16183296

Citation

Verpoorten, Nathalie, et al. "Disease Mechanisms in Hereditary Sensory and Autonomic Neuropathies." Neurobiology of Disease, vol. 21, no. 2, 2006, pp. 247-55.
Verpoorten N, De Jonghe P, Timmerman V. Disease mechanisms in hereditary sensory and autonomic neuropathies. Neurobiol Dis. 2006;21(2):247-55.
Verpoorten, N., De Jonghe, P., & Timmerman, V. (2006). Disease mechanisms in hereditary sensory and autonomic neuropathies. Neurobiology of Disease, 21(2), 247-55.
Verpoorten N, De Jonghe P, Timmerman V. Disease Mechanisms in Hereditary Sensory and Autonomic Neuropathies. Neurobiol Dis. 2006;21(2):247-55. PubMed PMID: 16183296.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Disease mechanisms in hereditary sensory and autonomic neuropathies. AU - Verpoorten,Nathalie, AU - De Jonghe,Peter, AU - Timmerman,Vincent, Y1 - 2005/09/23/ PY - 2005/06/08/received PY - 2005/08/16/revised PY - 2005/08/17/accepted PY - 2005/9/27/pubmed PY - 2006/3/30/medline PY - 2005/9/27/entrez SP - 247 EP - 55 JF - Neurobiology of disease JO - Neurobiol Dis VL - 21 IS - 2 N2 - 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. In contrast, sensory abnormalities predominate or are exclusively present in hereditary sensory and autonomic neuropathies (HSAN). HSAN are clinically and genetically heterogeneous and are subdivided according to mode of inheritance, age of onset and clinical evolution. In recent years, 6 disease-causing genes have been identified for autosomal dominant and recessive HSAN. However, vesicular transport and axonal trafficking seem important common pathways leading to degeneration of sensory and autonomic neurons. This review discusses the HSAN-related genes and their biological role in the disease mechanisms leading to HSAN. SN - 0969-9961 UR - https://www.unboundmedicine.com/medline/citation/16183296/Disease_mechanisms_in_hereditary_sensory_and_autonomic_neuropathies_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0969-9961(05)00230-5 DB - PRIME DP - Unbound Medicine ER -