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Novel CACNA1A mutation(s) associated with slow saccade velocities

Kipfer, Stefan ; Jung, Simon ; Lemke, Johannes ; Kipfer-Kauer, Anna ; Howell, Jeremy ; Kaelin-Lang, Alain ; Nyffeler, Thomas ; Gutbrod, Klemens ; Abicht, Angela ; Müri, René

In: Journal of Neurology, 2013, vol. 260, no. 12, p. 3010-3014

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    Titre
    • Novel CACNA1A mutation(s) associated with slow saccade velocities
    Auteur
    • Kipfer, Stefan. Perception and Eye Movement Laboratory, Departments of Clinical Research and Neurology, Inselspital, Bern University Hospital, and University of Bern, Freiburgstrasse 10, 3010, Bern, Switzerland
    • Jung, Simon. Perception and Eye Movement Laboratory, Departments of Clinical Research and Neurology, Inselspital, Bern University Hospital, and University of Bern, Freiburgstrasse 10, 3010, Bern, Switzerland
    • Lemke, Johannes. Division of Human Genetics, Inselspital, University of Bern Children's Hospital, Freiburgstrasse 10, 3010, Bern, Switzerland
    • Kipfer-Kauer, Anna. Department of Ophthalmology, Kantonsspital Luzern, Spitalstrasse 10, 6000, Luzern 16, Switzerland
    • Howell, Jeremy. Department of Ophthalmology, Kantonsspital Luzern, Spitalstrasse 10, 6000, Luzern 16, Switzerland
    • Kaelin-Lang, Alain. Department of Neurology, Movement Disorders Center, Inselspital, Bern University Hospital, and University of Bern, Freiburgstrasse 10, 3010, Bern, Switzerland
    • Nyffeler, Thomas. Perception and Eye Movement Laboratory, Departments of Clinical Research and Neurology, Inselspital, Bern University Hospital, and University of Bern, Freiburgstrasse 10, 3010, Bern, Switzerland
    • Gutbrod, Klemens. Perception and Eye Movement Laboratory, Departments of Clinical Research and Neurology, Inselspital, Bern University Hospital, and University of Bern, Freiburgstrasse 10, 3010, Bern, Switzerland
    • Abicht, Angela. Medical Genetics Center (MGZ), Bayerstrasse 3-5, 80335, Munich, Germany
    • Müri, René. Perception and Eye Movement Laboratory, Departments of Clinical Research and Neurology, Inselspital, Bern University Hospital, and University of Bern, Freiburgstrasse 10, 3010, Bern, Switzerland
    Type de document
    • Postprint
    Langue
    • Anglais
    Publié dans
    • Journal of Neurology, 2013, vol. 260, no. 12, p. 3010-3014. Springer Berlin Heidelberg
    Autre version électronique
    Identifiant OAI-PMH
    • oai:doc.rero.ch:321680
    Summary
    Mutations in the voltage-gated Cav2.1 P/Q-type calcium channel (CACNA1A) can cause a wide spectrum of phenotypes, including the episodic ataxia type 2. Beside the growing number of descriptions of novel CACNA1A mutations with episodic ataxia type 2 phenotype; there are only rare reports on interictal oculomotor signs other than nystagmus. We describe a novel CACNA1A mutation and an unclassified CACNA1A in-frame variant in a Swiss family presenting as the episodic ataxia type 2 phenotype associated with reduced saccade velocity. In this case series interictal clinical examination showed only minimal neurological findings as mild limb ataxia and nystagmus, but most interestingly saccade analysis of all three affected individuals demonstrated reduced mean saccade velocity. Genetic testing of CACNA1A revealed a de novo frame-shift mutation (c.2691dupC/p.Thyr898Leufs*170) in the index patient in addition to an unclassified in-frame variant (c.6657_6659dupCCA/p.His2220dup) segregating in all three affected individuals. The de novo frame-shift CACNA1A mutation and the unclassified in-frame CACNA1A variant were associated with the episodic ataxia type 2 phenotype and reduced mean saccade velocity, which suggests involvement of brainstem or neural pathways connecting brainstem and the cerebellum in this disease