2005
DOI: 10.1016/j.braindev.2004.02.016
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Paroxysmal tonic upgaze of childhood—a review

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Cited by 77 publications
(66 citation statements)
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References 12 publications
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“…There is a striking analogy between some of the neurological symptoms observed in PTU, BPTI and EA2, as illustrated in our family, and as suggested by some authors [3,11]. Our family and the linkage to CACNA1A mutation provide definite clues for the speculated relation between these disorders in some families and support the hypothesis of a shared physiopathological mechanism: these disorders can be included to the large group of the channelopathies.…”
supporting
confidence: 70%
See 1 more Smart Citation
“…There is a striking analogy between some of the neurological symptoms observed in PTU, BPTI and EA2, as illustrated in our family, and as suggested by some authors [3,11]. Our family and the linkage to CACNA1A mutation provide definite clues for the speculated relation between these disorders in some families and support the hypothesis of a shared physiopathological mechanism: these disorders can be included to the large group of the channelopathies.…”
supporting
confidence: 70%
“…PTU is characterized by episodes lasting a few hours of constant or variably sustained conjugate upward deviation of the eyes, with neck flexion and sometimes truncal ataxia [10,11]. BPTI is characterized by recurrent epiodic paroxysmal neurological manifestations whose clinical description is consistent with the diagnosis of PTU (patient II-5, III-6), BPTI (III-10) or episodic ataxia (II-5, II-8, III-5, III-11); one patient displayed both paroxysmal tonic upgaze during infancy and episodic ataxia from his teens (patient III-5, whose initial symptoms were reported by Echenne) [3].…”
mentioning
confidence: 99%
“…Tonic activity has been seen in other neurological conditions, such as paroxysmal tonic upgaze of childhood in which the pathophysiology is uncertain but has been associated with dorsal lesions in the brain stem. 8,9 Seizures also produce tonic upgaze deviation, 8 but our patient did not have clinical or electrographic evidence of seizure activity. Although a rostral brain stem lesion causing downgaze paresis was an initial consideration, our patient did not have corticospinal long tract findings and recovered rapidly from his bilateral upward gaze deviation without neurological residua.…”
Section: Discussionmentioning
confidence: 91%
“…However, this may also be a benign phenomenon. Transitory tonic downward eye deviation, skew deviation and intermittent opsoclonus may be observed in normal newborns [12]. Among the acquired gaze palsies those caused by tuberculous meningitis are quite frequent in endemic areas [13].…”
Section: Discussionmentioning
confidence: 99%