Abstract
Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare and autosomal recessive syndrome. We describe 2 cases of HGPPS which are the first documented in patients of African ancestry from an isolated population in Cape Verde. They demonstrated typical findings on neuro-ophthalmic examination and brain magnetic resonance imaging. One patient had novel heterozymous mutations of the ROB0 3 gene.
MeSH terms
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Adolescent
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Brain Stem / pathology*
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Cabo Verde
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Child
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DNA / genetics*
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DNA Mutational Analysis
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Disease Progression
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Female
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Humans
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Magnetic Resonance Imaging
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Male
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Mutation*
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Nerve Tissue Proteins
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Ocular Motility Disorders / diagnosis
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Ocular Motility Disorders / etiology*
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Ocular Motility Disorders / physiopathology
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Ophthalmoplegia, Chronic Progressive External / complications*
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Ophthalmoplegia, Chronic Progressive External / diagnosis
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Pedigree
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Receptors, Cell Surface
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Receptors, Immunologic / genetics*
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Receptors, Immunologic / metabolism
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Scoliosis / complications*
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Scoliosis / diagnosis
Substances
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Nerve Tissue Proteins
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ROBO3 protein, human
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Receptors, Cell Surface
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Receptors, Immunologic
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DNA
Supplementary concepts
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Gaze Palsy, Familial Horizontal, with Progressive Scoliosis