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

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 (US)
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 - Aug 13 2002
Externally published	Yes

ASJC Scopus subject areas

Clinical Neurology

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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.}",

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language = "English (US)",

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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).

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JO - Neurology

JF - Neurology

SN - 0028-3878

IS - 3

ER -

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

Abstract

ASJC Scopus subject areas

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