Article
Neurologic features of horizontal gaze palsy and progressive scoliosis with mutations in ROBO3.
Neurology - 12 Apr 2005
Bosley T M, Salih M A M, Jen J C, Lin D D M, Oystreck D, Abu-Amero K K, MacDonald D B, al Zayed Z, al Dhalaan H, Kansu T, Stigsby B, Baloh R W
Abstract excerpt
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...
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