Recent advances in hereditary sensory and autonomic neuropathies

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Curr Opin Neurol. 2006 Oct;19(5):474-480.

Recent advances in hereditary sensory and autonomic neuropathies.

Verhoeven K, Timmerman V, Mauko B, Pieber TR, De Jonghe P, Auer-

Grumbach M. a Peripheral Neuropathy Group, Department of Molecular

Genetics, Flanders Interuniversity Institute for Biotechnology,

University of Antwerp, Antwerpen, Belgium bLaboratory of

Neurogenetics, Institute Born-Bunge, University of Antwerp,

Antwerpen, Belgium cDepartment of Internal Medicine, Diabetes and

Metabolism, Medical University Graz, Graz, Austria dNeurogenetics

Group, Department of Molecular Genetics, Flanders Interuniversity

Institute for Biotechnology, University of Antwerp, Antwerpen,

Belgium eDepartment of Neurology, University Hospital Antwerpen,

Belgium fInstitute of Medical Biology and Human Genetics, Medical

University Graz, Graz, Austria.

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.