Title |
Novel CACNA1A mutation(s) associated with slow saccade velocities
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Published in |
Journal of Neurology, September 2013
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DOI | 10.1007/s00415-013-7099-4 |
Pubmed ID | |
Authors |
Stefan Kipfer, Simon Jung, Johannes R. Lemke, Anna Kipfer-Kauer, Jeremy P. Howell, Alain Kaelin-Lang, Thomas Nyffeler, Klemens Gutbrod, Angela Abicht, René M. Müri |
Abstract |
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. |
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United States | 1 | 100% |
Demographic breakdown
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Members of the public | 1 | 100% |
Mendeley readers
Geographical breakdown
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Korea, Republic of | 1 | 3% |
Spain | 1 | 3% |
Unknown | 27 | 93% |
Demographic breakdown
Readers by professional status | Count | As % |
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Student > Master | 7 | 24% |
Researcher | 6 | 21% |
Student > Postgraduate | 4 | 14% |
Student > Ph. D. Student | 2 | 7% |
Other | 2 | 7% |
Other | 4 | 14% |
Unknown | 4 | 14% |
Readers by discipline | Count | As % |
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Neuroscience | 6 | 21% |
Biochemistry, Genetics and Molecular Biology | 1 | 3% |
Computer Science | 1 | 3% |
Nursing and Health Professions | 1 | 3% |
Other | 2 | 7% |
Unknown | 6 | 21% |