Paroxysmal Tonic Upgaze

Paroxysmal tonic upgaze of childhood--a review.

Ouvrier and Billson (1988) were apparently the first to describe this entity. In the four original cases, the clinical features were as follows: (1) onset usually under 1 year of age, (2) episodes of variably sustained conjugate upward deviation of the eyes, with neck flexion (chin down) apparently compensating for the abnormal eye position, (3) downbeating saccades in attempted downgaze, (4) n...

Paroxysmal tonic upgaze of childhood with co-existent absence epilepsy.

Paroxysmal tonic upgaze (PTU) is a childhood oculomotor syndrome of unclear etiology characterized by episodic tonic upward eye deviation with neck flexion. Neuroimaging findings are often normal and the electroencephalography during episodes is typically normal. We describe a 2-year-old boy who presented with macrocephaly, hypotonia, developmental delay and episodes of eye fluttering, head nod...

Clinical commentary with video sequences Paroxysmal tonic upgaze of childhood with co-existent absence epilepsy

Paroxysmal tonic upgaze (PTU) is a childhood oculomotor syndrome of unclear etiology characterized by episodic tonic upward eye deviation with neck flexion. Neuroimaging findings are often normal and the electroencephalography during episodes is typically normal. We describe a 2-yearold boy who presented with macrocephaly, hypotonia, developmental delay and episodes of eye fluttering, head nodd...

Deletions in GRID2 lead to a recessive syndrome of cerebellar ataxia and tonic upgaze in humans.

OBJECTIVE To identify the genetic cause of a syndrome causing cerebellar ataxia and eye movement abnormalities. METHODS We identified 2 families with cerebellar ataxia, eye movement abnormalities, and global developmental delay. We performed genetic analyses including single nucleotide polymorphism genotyping, linkage analysis, array comparative genomic hybridization, quantitative PCR, and Sa...

Paroxysmal Tonic Upward Gaze at Adolescence: A Girl with Prader-Willi Syndrome.