2017
DOI: 10.1212/wnl.0000000000004556
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Teaching Video Neuro Images : Spastic ataxia syndrome

Abstract: A 24-year-old Chilean man with slowly progressive ataxia since age 2 presented with spastic ataxia, hyperreflexia, pes cavus, axonal polyneuropathy, incomplete right-bundle branch block on ECG, and impaired glucose tolerance test, suggesting Friedreich ataxia (figure; video at Neurology.org). However, the combination of hyperreflexia and cerebellar (rather than cervical cord) atrophy with T2-weighted linear hypointensity in the pons on brain MRI suggested autosomal recessive spastic ataxia of CharlevoixSaguena… Show more

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Cited by 3 publications
(1 citation statement)
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“…Some foot deformities are also reported in ARSACS, such as pes cavus, hammer toes and foot drop, without clear prevalence [ 1 3 , 5 – 7 , 9 , 12 , 13 , 22 , 23 , 27 , 30 , 34 , 38 40 , 52 , 55 , 56 , 59 , 62 64 , 66 , 69 , 72 , 74 , 78 , 79 , 81 , 91 , 93 , 95 , 96 , 99 102 , 106 , 107 , 109 , 110 , 115 , 116 , 120 , 122 , 129 , 136 , 137 , 141 ]. Only 2/12 participants reported foot deformities that impacted their life.…”
Section: Physical Healthmentioning
confidence: 99%
“…Some foot deformities are also reported in ARSACS, such as pes cavus, hammer toes and foot drop, without clear prevalence [ 1 3 , 5 – 7 , 9 , 12 , 13 , 22 , 23 , 27 , 30 , 34 , 38 40 , 52 , 55 , 56 , 59 , 62 64 , 66 , 69 , 72 , 74 , 78 , 79 , 81 , 91 , 93 , 95 , 96 , 99 102 , 106 , 107 , 109 , 110 , 115 , 116 , 120 , 122 , 129 , 136 , 137 , 141 ]. Only 2/12 participants reported foot deformities that impacted their life.…”
Section: Physical Healthmentioning
confidence: 99%