Familial paralysis of horizontal gaze

Abstract

Paralysis of horizontal gaze, pendular nystagmus, and progressive scoliosis were manifestations of an autosomal recessive genetic disease in four siblings. Bilateral facial myokymia with continuous facial contraction developed in the oldest patient. Electromyographic examination of his facial muscles after facial nerve block at the stylomastoid foramen showed absence of all muscle potentials, consistent with a supranuclear origin of the myokymia. Normality of convergence, vertical gaze, and pupillary constrictor reflex activity assured integrity of midbrain ocular motor function. Absence of horizontal vestibulo-ocular reflexes signified involvement of the pontine tegmentum in this distinctive heredofamilial syndrome.

Mutations in a Human ROBO Gene Disrupt Hindbrain Axon Pathway Crossing and Morphogenesis

“…HGPPS is characterized by absence of conjugate horizontal eye movement and scoliosis that often requires surgical intervention early in life ( Fig. 1) (13,14). Horizontal gaze palsy may be due to defects in the abducens nuclei (CN VI), which contain both ipsilaterally projecting motor neurons and contralaterally projecting interneurons, or supranuclear control regions such as the pontine paramedian reticular formation (PPRF) that projects to the abducens and oculomotor nuclei (15 ).…”

An uncommon case of horizontal Gaze Palsy with scoliosis and associated brain-stem anomaly (HGPPS)

“…[3][4]In 1975, Sharpe et al considered the association of paralysis of horizontal gaze, pendular nystagmus, and progressive scoliosis to constitute a distinctive heredofamiliar syndrome. [5]In reviewing the literature more than 20 years later, Thomsen et al found 11 articles reporting 39 patients with the combination of progressive scoliosis and familial congenital gaze palsy. [6]In 2002, Jen et al described six patients from two nonconsanguineous families and mapped the disease locus to a 30-cM interval on chromosome 11q23-25.…”

Further diffusion tensor imaging contribution in horizontal gaze palsy and progressive scoliosis

“…No red dot of the dScP, which is normally seen on colorcoded maps (Fig e), could be shown in our patients (Fig d). discussion Abnormalities in conjugate horizontal eye movement have been described in association with progressive scoliosis 1,6 . Absence of conjugate horizontal eye movement are thought to be congenital, even though in some case reports, clinical evaluation during childhood had been normal or neglected this finding.…”

“…contrary to what is seen in Moebius syndrome, in HGPPS, typically, the vII nerve is not involved, also favoring sparing of the abducens nucleus as the vII nerve turns around it and lesions of the last site invariably course with associated facial involvement. vestibular-ocular reflex (vor) and optokinetic nystagmus (oKN) are reported to be absent in HGPPS 6 , while vertical saccades and pursuit are normal, favoring involvement of MlF to PPrF lesion. PPrF lesion would also promote vertical saccades and pursuit derangements.…”