RFC1 repeat expansions: A recurrent cause of sensory and autonomic neuropathy with cough and ataxia

Background and purpose Ataxia and cough are rare features in hereditary sensory and autonomic neuropathies (HSAN), a group of diseases of mostly unknown genetic cause. Biallelic repeat expansions in RFC1 are associated with cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS). T...

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Veröffentlicht in:	European journal of neurology 2022-07, Vol.29 (7), p.2156-2161
Hauptverfasser:	Beijer, Danique, Dohrn, Maike F., Winter, Jonathan, Fazal, Sarah, Cortese, Andrea, Stojkovic, Tanya, Fernández‐Eulate, Gorka, Remiche, Gauthier, Gentile, Mattia, Coster, Rudy, Dufke, Claudia, Synofzik, Matthis, Jonghe, Peter, Züchner, Stephan, Baets, Jonathan
Format:	Artikel
Sprache:	eng
Schlagworte:	afferent ataxia Ataxia autonomic dysfunction Autonomic nervous system Cerebellar ataxia Cerebellum chronic cough Cough Neuropathy next‐generation sequencing RFC1 repeat‐primed PCR Sensory neurons Signs and symptoms Vestibular system
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