Cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS) with chronic cough and preserved muscle stretch reflexes: evidence for selective sparing of afferent Ia fibres
Sign Up to like & getrecommendations! Published in 2018 at "Journal of Neurology"
DOI: 10.1007/s00415-018-8872-1
Abstract: The aim of this study was to describe five patients with cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS) with chronic cough and preserved limb muscle stretch reflexes. All five patients were in the seventh… read more here.
Keywords: cerebellar ataxia; ataxia neuropathy; muscle; cough ... See more keywords
VEMPs in a patient with cerebellar ataxia, neuropathy and vestibular areflexia (CANVAS)
Sign Up to like & getrecommendations! Published in 2017 at "Journal of the Neurological Sciences"
DOI: 10.1016/j.jns.2017.04.029
Abstract: We report on a 65-year old patient referred to our department with progressive gait ataxia and oscillopsia. Approximately 6 years before, the patient had developed an unsteadiness of gait, especially on uneven ground. Therewas no… read more here.
Keywords: cerebellar ataxia; ataxia neuropathy; ataxia; canvas ... See more keywords
Adult-Onset Ataxia With Neuropathy and White Matter Abnormalities Due to a Novel SAMD9L Variant
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DOI: 10.1212/nxg.0000000000000628
Abstract: Variants in tumor suppressor genes and in genes encoding DNA repairing proteins are associated with syndromes conferring neurologic features and increased risk for malignancy. The best example for these conditions is ataxia-telangiectasia (AT). A more… read more here.
Keywords: novel samd9l; onset ataxia; adult onset; variant ... See more keywords