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

doi:10.1212/01.wnl.0000201191.57519.47

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

Fondazione IRCCS Istituto Neurologico "C. Besta"

Research output: Contribution to journal › Article › peer-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 language	English
Pages (from-to)	748-751
Number of pages	4
Journal	Neurology
Volume	66
Issue number	5
DOIs	https://doi.org/10.1212/01.wnl.0000201191.57519.47
Publication status	Published - Mar 2006

ASJC Scopus subject areas

Neuroscience(all)

Access to Document

10.1212/01.wnl.0000201191.57519.47

Cite this

Coen, K., Pareyson, D., Auer-Grumbach, M., Buyse, G., Goemans, N., Claeys, K. G., Verpoorten, N., Laurà, M., Scaioli, V., Salmhofer, W., Pieber, T. R., Nelis, E., De Jonghe, P., & Timmerman, V. (2006). Novel mutations in the HSN2 gene causing hereditary sensory and autonomic neuropathy type II. Neurology, 66(5), 748-751. https://doi.org/10.1212/01.wnl.0000201191.57519.47

Novel mutations in the HSN2 gene causing hereditary sensory and autonomic neuropathy type II. / Coen, K.; Pareyson, D.; Auer-Grumbach, M.; Buyse, G.; Goemans, N.; Claeys, K. G.; Verpoorten, N.; Laurà, M.; Scaioli, V.; Salmhofer, W.; Pieber, T. R.; Nelis, E.; De Jonghe, P.; Timmerman, V.

In: Neurology, Vol. 66, No. 5, 03.2006, p. 748-751.

Research output: Contribution to journal › Article › peer-review

@article{10fa2e4fa35e45fa84ff1e7cadc04f53,

title = "Novel mutations in the HSN2 gene causing hereditary sensory and autonomic neuropathy type II",

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.",

author = "K. Coen and D. Pareyson and M. Auer-Grumbach and G. Buyse and N. Goemans and Claeys, {K. G.} and N. Verpoorten and M. Laur{\`a} and V. Scaioli and W. Salmhofer and Pieber, {T. R.} and E. Nelis and {De Jonghe}, P. and V. Timmerman",

year = "2006",

month = mar,

doi = "10.1212/01.wnl.0000201191.57519.47",

language = "English",

volume = "66",

pages = "748--751",

journal = "Neurology",

issn = "0028-3878",

publisher = "Lippincott Williams and Wilkins",

number = "5",

}

TY - JOUR

T1 - Novel mutations in the HSN2 gene causing hereditary sensory and autonomic neuropathy type II

AU - Coen, K.

AU - Pareyson, D.

AU - Auer-Grumbach, M.

AU - Buyse, G.

AU - Goemans, N.

AU - Claeys, K. G.

AU - Verpoorten, N.

AU - Laurà, M.

AU - Scaioli, V.

AU - Salmhofer, W.

AU - Pieber, T. R.

AU - Nelis, E.

AU - De Jonghe, P.

AU - Timmerman, V.

PY - 2006/3

Y1 - 2006/3

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=33645869292&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=33645869292&partnerID=8YFLogxK

U2 - 10.1212/01.wnl.0000201191.57519.47

DO - 10.1212/01.wnl.0000201191.57519.47

M3 - Article

C2 - 16534117

AN - SCOPUS:33645869292

VL - 66

SP - 748

EP - 751

JO - Neurology

JF - Neurology

SN - 0028-3878

IS - 5

ER -

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

Abstract

ASJC Scopus subject areas

Access to Document

Other files and links

Fingerprint

Cite this