Slowed abduction during smooth pursuit eye movement in episodic ataxia type 2 with a novel CACNA1A mutation
• Slowed abduction during smooth pursuit (pursuit abduction lag) is rare. • This is the first case of EA2 presenting with pursuit abduction lag. • Our case exhibited cerebellar oculomotor signs and dissociated nystagmus. • Brainstem and cerebellar dysfunction could contribute to pursuit abduction la...
Ausführliche Beschreibung
Gespeichert in:
| Autor*in: |
Shimmura, Mitsunori [verfasserIn] |
|---|
| Format: |
E-Artikel |
|---|---|
| Sprache: |
Englisch |
| Erschienen: |
2017 |
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| Umfang: |
3 |
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| Übergeordnetes Werk: |
Enthalten in: A new global analytical potential energy surface of NaH - Yuan, Meiling ELSEVIER, 2018, official journal of the World Federation of Neurology, Amsterdam [u.a.] |
|---|---|
| Übergeordnetes Werk: |
volume:381 ; year:2017 ; day:15 ; month:10 ; pages:4-6 ; extent:3 |
| Links: |
|---|
| DOI / URN: |
10.1016/j.jns.2017.07.040 |
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| 520 | |a • Slowed abduction during smooth pursuit (pursuit abduction lag) is rare. • This is the first case of EA2 presenting with pursuit abduction lag. • Our case exhibited cerebellar oculomotor signs and dissociated nystagmus. • Brainstem and cerebellar dysfunction could contribute to pursuit abduction lag. • A novel nonsense mutation might be associated with this rare phenotype. | ||
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Slowed abduction during smooth pursuit eye movement in episodic ataxia type 2 with a novel CACNA1A mutation |
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• Slowed abduction during smooth pursuit (pursuit abduction lag) is rare. • This is the first case of EA2 presenting with pursuit abduction lag. • Our case exhibited cerebellar oculomotor signs and dissociated nystagmus. • Brainstem and cerebellar dysfunction could contribute to pursuit abduction lag. • A novel nonsense mutation might be associated with this rare phenotype. |
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• Slowed abduction during smooth pursuit (pursuit abduction lag) is rare. • This is the first case of EA2 presenting with pursuit abduction lag. • Our case exhibited cerebellar oculomotor signs and dissociated nystagmus. • Brainstem and cerebellar dysfunction could contribute to pursuit abduction lag. • A novel nonsense mutation might be associated with this rare phenotype. |
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• Slowed abduction during smooth pursuit (pursuit abduction lag) is rare. • This is the first case of EA2 presenting with pursuit abduction lag. • Our case exhibited cerebellar oculomotor signs and dissociated nystagmus. • Brainstem and cerebellar dysfunction could contribute to pursuit abduction lag. • A novel nonsense mutation might be associated with this rare phenotype. |
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Slowed abduction during smooth pursuit eye movement in episodic ataxia type 2 with a novel CACNA1A mutation |
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