Internuclear Ophthalmoparesis in Episodic Ataxia Type 2

: Two patients sharing a novel mutation of the CACNA1A gene for P/Q calcium channels showed significant slowing of adducting saccades compared with normal subjects or patients with cerebellar disease. Internuclear ophthalmoparesis (INO) was clinically evident in one. While these findings might be sp...

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Bibliographic Details
Published in:Annals of the New York Academy of Sciences 2005-04, Vol.1039 (1), p.571-574
Main Authors: RUCKER, JANET C., JEN, JOANNA, STAHL, JOHN S., NATESAN, NANDHITHA, BALOH, R.BERT W., LEIGH, R.JOHN
Format: Article
Language:English
Subjects:
Adult
Ataxia
Calcium
calcium channelopathies
Calcium Channels - genetics
Cerebellar Ataxia - genetics
Cerebellum
Channels
Depth Perception
Fixation, Ocular
Genes
Humans
Male
Mutation
Mutations
Ophthalmoplegia - diagnosis
Ophthalmoplegia - etiology
Ophthalmoplegia - genetics
Patients
Retarding
saccades
Saccades - physiology
Vision, Ocular
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Summary:: Two patients sharing a novel mutation of the CACNA1A gene for P/Q calcium channels showed significant slowing of adducting saccades compared with normal subjects or patients with cerebellar disease. Internuclear ophthalmoparesis (INO) was clinically evident in one. While these findings might be specific to this mutation, INO in our patients with episodic ataxia type 2 suggested involvement outside the cerebellum, either in the brain‐stem internuclear pathway or at the neuromuscular junction.
ISSN:0077-8923
1749-6632
DOI:10.1196/annals.1325.070