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These observations highlight the importance of screening for a potentially treatable cause, CABC1/ADCK3 mutations, not only in severe childhood-onset ataxia, but also in patients with mild cerebellar ataxia in adult life.
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Rita Horváth
University of Cambridge
Birgit Czermin
University Hospital Centre Zagreb
Sweena Gulati
Medical Genetics Center
Journal of Neurology Neurosurgery & Psychiatry
Newcastle University
University of Freiburg
Haukeland University Hospital
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Horváth et al. (Sat,) studied this question.
synapsesocial.com/papers/69d9d9e0a1d151c65f6854e5 — DOI: https://doi.org/10.1136/jnnp-2011-301258