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Baseline characteristics (n = 15)
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Gender:
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Male (n, %)
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9.0(60.0%)
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Female (n, %)
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6.0(40.0%)
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Mean age of presentation (years,(SD))
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35.6(±9.2)
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Mean age of onset (years, (SD)
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31.2(±8.1)
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Mean duration of illness (years, (SD))
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4.5(±2.9)
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Median time to wheel chair (months, (IQR))
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12.0(12.0–24.0)
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Median time to ophthalmoplegia (months, IQR))
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12.0(6.0–21.0)
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Mean SARA at baseline score (score (SD))
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12.3(±8.9)
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Phenotypic Characteristics (n, %)
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Broken smooth pursuit
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7(46.7)
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Square jerk fixation
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7(46.7)
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Downbeat nystagmus
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4(26.7)
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Gaze evoked horizontal nystagmus
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8(53.3.)
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Gaze evoked vertical nystagmus
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3(20.0)
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Ophthalmoparesis on horizontal nystagmus
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7(46.7)
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Opthalmoparesis vertical gaze
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7(46.7)
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Slowing saccades
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7(46.7)
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Hypermetric saccades
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3(20.0)
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Hypometric saccades
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7(46.7)
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Diplopia
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7(46.7)
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Ophthalmoplegia
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7(46.7)
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Hyperreflexia
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9(60.0)
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Extensor plantar reflex
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3(20.0)
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Clonus
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2(13.3)
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Spasticity
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6(40.0)
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Rigidity
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2(13.3)
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Resting tremor
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0 (0)
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Dystonia
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2(13.3)
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Paresis
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0 (0)
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Muscle atrophy
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2(13.3)
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Fasciculation
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2(13.3)
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Chorea
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0 (0)
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Impaired vibration sense
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1(6.7)
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Dysarthria
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14(93.3)
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Dysphagia
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3(20.0)
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Cognitive impairment
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1(6.7)
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