Mutation in RNF170 causes sensory ataxic neuropathy with vestibular areflexia: a CANVAS mimic

J Neurol Neurosurg Psychiatry. 2020 Nov;91(11):1237-1238. doi: 10.1136/jnnp-2020-323719. Epub 2020 Sep 17.

Andrea Cortese^{1

2}, Ilaria Callegari^{3

4}, Riccardo Currò^{3

4}, Elisa Vegezzi^{3

4}, Silvia Colnaghi⁴, Maurizio Versino⁵, Enrico Alfonsi⁴, Giuseppe Cosentino^{3

4}, Enzamaria Valente^{3

4}, Simone Gana⁴, Cristina Tassorelli^{3

4}, Anna Pichiecchio^{3

4}, Alexander M Rossor², Enrico Bugiardini², Antonio Biroli⁶, Daniela Di Capua⁷, Henry Houlden², Mary M Reilly²

¹ Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy [email protected].
² Department for Neuromuscular Disease, UCL Queen Square Institute of Neurology and The National Hospital for Neurology, London, UK.
³ Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy.
⁴ IRCCS Mondino Foundation, Pavia, Italy.
⁵ Neurology Unit, ASST Settelaghi-Insubria University-DMC, Varese, Italy.
⁶ Neurosurgery Unit, ASST Spedali Civili of Brescia, Brescia, Italy.
⁷ Neurologia, Hospital de Especialidades Eugenio Espejo, Quito, Ecuador.

No abstract available

Keywords: cerebellar ataxia; neurogenetics; neuropathy.

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