Novel mutations in the HSN2 gene causing hereditary sensory and autonomic neuropathy type II

K. Coen, D. Pareyson, M. Auer-Grumbach, G. Buyse, N. Goemans, K. G. Claeys, N. Verpoorten, M. Laurà, V. Scaioli, W. Salmhofer, T. R. Pieber, E. Nelis, P. De Jonghe, V. Timmerman

Research output: Contribution to journalArticlepeer-review

Abstract

Hereditary sensory and autonomic neuropathy type II (HSAN-II) is caused by recessive mutations in the HSN2 gene assigned to chromosome 12p13.33. The authors report three unrelated HSAN-II families with homozygous or compound heterozygous mutations resulting in the truncation of the HSN2 protein. Genotype-phenotype correlations indicated that HSN2 mutations are associated with an early childhood onset of a predominantly sensory neuropathy, complicated by acromutilations in both upper and lower limbs.

Original languageEnglish
Pages (from-to)748-751
Number of pages4
JournalNeurology
Volume66
Issue number5
DOIs
Publication statusPublished - Mar 2006

ASJC Scopus subject areas

  • Neuroscience(all)

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