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Table 1 Clinical features

From: Spinocerebellar ataxia 28: a novel AFG3L2 mutation in a German family with young onset, slow progression and saccadic slowing

  Patient 1 Patient 2 Patient 3 Patient 4
Sex F M F M
Age 81 61 59 53
Age of onset and
First symptoms
55 ptosis + falls
60 gait disturbance
24 gait disturbance 16 seizures
39 gait disorder
no subjective
complaints
Walking assistance (age) 65 60 50
Disease duration (from onset of gait disorder to physical examination) 36 37 20 ?
MRI Nd Cerebellar atrophy
Discrete white matter lesions
(age 56)
Cerebellar atrophy
Discrete white matter lesions
(age 56)
Nd
Ataxia of stance and gait +++ ++ ++ +
Upper limb ataxia + + + +
Lower limb ataxia + + + +
Intention tremor
Dysarthria (+) ++ + +
Impaired smooth pursuit Cannot be evaluated due to limitation of gaze + +
Gaze evoked nystagmus horizontal Cannot be evaluated due to limitation of gaze + +
Impaired suppression of the vestibuloocular reflex (VOR) +
Limitation of gaze Vertical complete
Horizontal incomplete
Saccadic slowing ++ ++
Ptosis +++
VI paresis bilateral
Dysphagia +
Hearing loss +
Deep tendon reflexes brisk brisk increased brisk
Extensor plantar responses
Spasticity
Impaired noci- and thermoception + +
Impaired vibration sense + + + +
Other symptoms sleep apnea rare seizures
SARA score [15] 11/40 11/40 19/40 8/40