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Novel CACNA1A mutation(s) associated with slow saccade velocities
Stefan Kipfer1, Simon Jung, Johannes R Lemke
1Perception and Eye Movement Laboratory, Departments of Clinical Research and Neurology, Inselspital, Bern University Hospital, and University of Bern, Freiburgstrasse 10, 3010, Bern, Switzerland, s.kipfer@gmx.ch.
Journal of Neurology
|September 19, 2013
Summary
Novel mutations in the CACNA1A gene are linked to episodic ataxia type 2 and reduced saccade velocity. This study identifies a new CACNA1A mutation and variant associated with these neurological symptoms.
Area of Science:
- Neurogenetics
- Channelopathies
- Neurology
Background:
- Mutations in the CACNA1A gene, encoding the Cav2.1 P/Q-type calcium channel, are associated with episodic ataxia type 2 (EA2).
- Interictal oculomotor abnormalities beyond nystagmus are infrequently reported in EA2 patients.
Purpose of the Study:
- To report a novel CACNA1A mutation and an unclassified variant in a Swiss family with EA2.
- To investigate the association of these genetic findings with reduced saccade velocity.
Main Methods:
- Clinical examination of affected individuals.
- Saccade velocity analysis.
- Genetic testing of the CACNA1A gene.
Main Results:
- A de novo frame-shift mutation (c.2691dupC/p.Thyr898Leufs 170) and an unclassified in-frame variant (c.6657_6659dupCCA/p.His2220dup) in CACNA1A were identified.
- All affected individuals exhibited reduced mean saccade velocity.
- Clinical presentation included EA2 phenotype with mild limb ataxia and nystagmus.
Conclusions:
- The identified CACNA1A mutations are associated with EA2 and reduced saccade velocity.
- This suggests the involvement of brainstem or related neural pathways in the pathophysiology of EA2.
- Reduced saccade velocity may serve as a key interictal oculomotor sign in CACNA1A-related disorders.
