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Title:

[CANVAS: case report on a novel repeat expansion disorder with late-onset ataxia].

Document type:
English Abstract; Journal Article
Author(s):
Meindl, Tobias; Cordts, Isabell; Scherzer, Anna-Lisa; Lingor, Paul; Maegerlein, Christian; Galassi Deforie, Valentina; Dominik, Natalia; Houlden, Henry; Cortese, Andrea; Deschauer, Marcus
Abstract:
This article presents the case of a 74-year-old female patient who first developed a progressive disease with sensory neuropathy, cerebellar ataxia and bilateral vestibulopathy at the age of 60 years. The family history was unremarkable. Magnetic resonance imaging (MRI) showed atrophy of the cerebellum predominantly in the vermis and atrophy of the spinal cord. The patient was given the syndromic diagnosis of cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS). In 2019 the unde...     »
Journal title abbreviation:
Nervenarzt
Year:
2020
Journal volume:
91
Journal issue:
6
Pages contribution:
537-540
Fulltext / DOI:
doi:10.1007/s00115-020-00912-1
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/32367146
Print-ISSN:
0028-2804
TUM Institution:
Fachgebiet Neuroradiologie (Prof. Zimmer); Neurologische Klinik und Poliklinik
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