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

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

doi:10.1212/WNL.59.3.432

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

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

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

61 Scopus citations

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 language	English
Pages (from-to)	432-435
Number of pages	4
Journal	Neurology
Volume	59
Issue number	3
DOIs	https://doi.org/10.1212/WNL.59.3.432
State	Published - 13 Aug 2002
Externally published	Yes

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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 Bosley, \{T. M.\} and Salih, \{M. A.M.\} and C. Sabatti and Nelson, \{S. F.\} and Baloh, \{R. W.\}",

year = "2002",

month = aug,

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doi = "10.1212/WNL.59.3.432",

language = "English",

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

AU - Jen, J.

AU - Coulin, C. J.

AU - Bosley, T. M.

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 - https://www.scopus.com/pages/publications/0037072250

U2 - 10.1212/WNL.59.3.432

DO - 10.1212/WNL.59.3.432

M3 - Article

AN - SCOPUS:0037072250

SN - 0028-3878

VL - 59

SP - 432

EP - 435

JO - Neurology

JF - Neurology

IS - 3

ER -

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

Abstract

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