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http://purl.uniprot.org/citations/15824346http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/15824346http://www.w3.org/2000/01/rdf-schema#comment"

Objective

To review the neurologic, neuroradiologic, and electrophysiologic features of autosomal recessive horizontal gaze palsy and progressive scoliosis (HGPPS), a syndrome caused by mutation of the ROBO3 gene on chromosome 11 and associated with defective decussation of certain brainstem neuronal systems.

Methods

The authors examined 11 individuals with HGPPS from five genotyped families with HGPPS. Eight individuals had brain MRI, and six had electrophysiologic studies.

Results

Horizontal gaze palsy was fully penetrant, present at birth, and total or almost total in all affected individuals. Convergence, ocular alignment, congenital nystagmus, and vertical smooth pursuit defects were variable between individuals. All patients developed progressive scoliosis during early childhood. All appropriately studied patients had hypoplasia of the pons and cerebellar peduncles with both anterior and posterior midline clefts of the pons and medulla and electrophysiologic evidence of ipsilateral corticospinal and dorsal column-medial lemniscus tract innervation. Heterozygotes were unaffected.

Conclusions

The major clinical characteristics of horizontal gaze palsy and progressive scoliosis were congenital horizontal gaze palsy and progressive scoliosis with some variability in both ocular motility and degree of scoliosis. The syndrome also includes a distinctive brainstem malformation and defective crossing of some brainstem neuronal pathways."xsd:string
http://purl.uniprot.org/citations/15824346http://purl.org/dc/terms/identifier"doi:10.1212/01.wnl.0000156349.01765.2b"xsd:string
http://purl.uniprot.org/citations/15824346http://purl.uniprot.org/core/author"Salih M.A."xsd:string
http://purl.uniprot.org/citations/15824346http://purl.uniprot.org/core/author"Bosley T.M."xsd:string
http://purl.uniprot.org/citations/15824346http://purl.uniprot.org/core/author"Jen J.C."xsd:string
http://purl.uniprot.org/citations/15824346http://purl.uniprot.org/core/author"Abu-Amero K.K."xsd:string
http://purl.uniprot.org/citations/15824346http://purl.uniprot.org/core/author"Baloh R.W."xsd:string
http://purl.uniprot.org/citations/15824346http://purl.uniprot.org/core/author"Lin D.D."xsd:string
http://purl.uniprot.org/citations/15824346http://purl.uniprot.org/core/author"Kansu T."xsd:string
http://purl.uniprot.org/citations/15824346http://purl.uniprot.org/core/author"MacDonald D.B."xsd:string
http://purl.uniprot.org/citations/15824346http://purl.uniprot.org/core/author"Stigsby B."xsd:string
http://purl.uniprot.org/citations/15824346http://purl.uniprot.org/core/author"Oystreck D."xsd:string
http://purl.uniprot.org/citations/15824346http://purl.uniprot.org/core/author"al Dhalaan H."xsd:string
http://purl.uniprot.org/citations/15824346http://purl.uniprot.org/core/author"al Zayed Z."xsd:string
http://purl.uniprot.org/citations/15824346http://purl.uniprot.org/core/date"2005"xsd:gYear
http://purl.uniprot.org/citations/15824346http://purl.uniprot.org/core/name"Neurology"xsd:string
http://purl.uniprot.org/citations/15824346http://purl.uniprot.org/core/pages"1196-1203"xsd:string
http://purl.uniprot.org/citations/15824346http://purl.uniprot.org/core/title"Neurologic features of horizontal gaze palsy and progressive scoliosis with mutations in ROBO3."xsd:string
http://purl.uniprot.org/citations/15824346http://purl.uniprot.org/core/volume"64"xsd:string
http://purl.uniprot.org/citations/15824346http://www.w3.org/2004/02/skos/core#exactMatchhttp://purl.uniprot.org/pubmed/15824346
http://purl.uniprot.org/citations/15824346http://xmlns.com/foaf/0.1/primaryTopicOfhttps://pubmed.ncbi.nlm.nih.gov/15824346
http://purl.uniprot.org/uniprot/#_A8K4T0-mappedCitation-15824346http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/15824346
http://purl.uniprot.org/uniprot/#_B4DI90-mappedCitation-15824346http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/15824346
http://purl.uniprot.org/uniprot/#_B4DQG7-mappedCitation-15824346http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/15824346
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