Familial horizontal gaze palsy with progressive scoliosis maps to chromosome 11q23-25

J. Jen, C. J. Coulin, Thomas Bosley, M. A M Salih, C. Sabatti, S. F. Nelson, R. W. Baloh

Research output: Contribution to journalArticle

Abstract

Horizontal gaze palsy with progressive scoliosis (HGPS) is a rare, autosomal recessive disorder characterized by a congenital absence of conjugate horizontal eye movement, with progressive scoliosis developing in childhood or adolescence. The authors identified two unrelated consanguineous families with HGPS. Genomewide homozygosity mapping and linkage analysis mapped the disease locus to a 30-cM interval on chromosome 11q23-25 (combined maximum multipoint lod score Z = 5.46).

Original languageEnglish (US)
Pages (from-to)432-435
Number of pages4
JournalNeurology
Volume59
Issue number3
StatePublished - Aug 13 2002
Externally publishedYes

Fingerprint

Chromosomes
Lod Score
Chromosome Mapping
Scoliosis
Eye Movements
Familial Horizontal Gaze Palsy with Progressive Scoliosis

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Jen, J., Coulin, C. J., Bosley, T., Salih, M. A. M., Sabatti, C., Nelson, S. F., & Baloh, R. W. (2002). Familial horizontal gaze palsy with progressive scoliosis maps to chromosome 11q23-25. Neurology, 59(3), 432-435.

Familial horizontal gaze palsy with progressive scoliosis maps to chromosome 11q23-25. / Jen, J.; Coulin, C. J.; Bosley, Thomas; Salih, M. A M; Sabatti, C.; Nelson, S. F.; Baloh, R. W.

In: Neurology, Vol. 59, No. 3, 13.08.2002, p. 432-435.

Research output: Contribution to journalArticle

Jen, J, Coulin, CJ, Bosley, T, Salih, MAM, Sabatti, C, Nelson, SF & Baloh, RW 2002, 'Familial horizontal gaze palsy with progressive scoliosis maps to chromosome 11q23-25', Neurology, vol. 59, no. 3, pp. 432-435.
Jen J, Coulin CJ, Bosley T, Salih MAM, Sabatti C, Nelson SF et al. Familial horizontal gaze palsy with progressive scoliosis maps to chromosome 11q23-25. Neurology. 2002 Aug 13;59(3):432-435.
Jen, J. ; Coulin, C. J. ; Bosley, Thomas ; Salih, M. A M ; Sabatti, C. ; Nelson, S. F. ; Baloh, R. W. / Familial horizontal gaze palsy with progressive scoliosis maps to chromosome 11q23-25. In: Neurology. 2002 ; Vol. 59, No. 3. pp. 432-435.
@article{d6e30a8c767c4d2eb7c5d1233f711135,
title = "Familial horizontal gaze palsy with progressive scoliosis maps to chromosome 11q23-25",
abstract = "Horizontal gaze palsy with progressive scoliosis (HGPS) is a rare, autosomal recessive disorder characterized by a congenital absence of conjugate horizontal eye movement, with progressive scoliosis developing in childhood or adolescence. The authors identified two unrelated consanguineous families with HGPS. Genomewide homozygosity mapping and linkage analysis mapped the disease locus to a 30-cM interval on chromosome 11q23-25 (combined maximum multipoint lod score Z = 5.46).",
author = "J. Jen and Coulin, {C. J.} and Thomas Bosley and Salih, {M. A M} and C. Sabatti and Nelson, {S. F.} and Baloh, {R. W.}",
year = "2002",
month = "8",
day = "13",
language = "English (US)",
volume = "59",
pages = "432--435",
journal = "Neurology",
issn = "0028-3878",
publisher = "Lippincott Williams and Wilkins",
number = "3",

}

TY - JOUR

T1 - Familial horizontal gaze palsy with progressive scoliosis maps to chromosome 11q23-25

AU - Jen, J.

AU - Coulin, C. J.

AU - Bosley, Thomas

AU - Salih, M. A M

AU - Sabatti, C.

AU - Nelson, S. F.

AU - Baloh, R. W.

PY - 2002/8/13

Y1 - 2002/8/13

N2 - Horizontal gaze palsy with progressive scoliosis (HGPS) is a rare, autosomal recessive disorder characterized by a congenital absence of conjugate horizontal eye movement, with progressive scoliosis developing in childhood or adolescence. The authors identified two unrelated consanguineous families with HGPS. Genomewide homozygosity mapping and linkage analysis mapped the disease locus to a 30-cM interval on chromosome 11q23-25 (combined maximum multipoint lod score Z = 5.46).

AB - Horizontal gaze palsy with progressive scoliosis (HGPS) is a rare, autosomal recessive disorder characterized by a congenital absence of conjugate horizontal eye movement, with progressive scoliosis developing in childhood or adolescence. The authors identified two unrelated consanguineous families with HGPS. Genomewide homozygosity mapping and linkage analysis mapped the disease locus to a 30-cM interval on chromosome 11q23-25 (combined maximum multipoint lod score Z = 5.46).

UR - http://www.scopus.com/inward/record.url?scp=0037072250&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0037072250&partnerID=8YFLogxK

M3 - Article

C2 - 12177379

AN - SCOPUS:0037072250

VL - 59

SP - 432

EP - 435

JO - Neurology

JF - Neurology

SN - 0028-3878

IS - 3

ER -