Literature DB >> 33188504

Spasmodic cough preceding CANVAS phenotype in a family with biallelic repeat expansions in RFC1.

Maria João Malaquias1, Catarina Mendes Pinto2, Ana Sardoeira3, Jorge Oliveira4, João Parente Freixo4, Ana Aires Silva5, Pedro Abreu5, Cristina Rosado Coelho6, Joana Damásio3, Nuno Vila-Chã3, Marina Magalhães3,7.   

Abstract

Cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS) is a late-onset, multisystem ataxia that remained only clinically defined, until recently, when the discovery of biallelic repeat expansion in the RFC1 gene allowed the genetic link. We describe the first Portuguese familial CANVAS harboring the pathogenic RFC1 expansion. Detail clinical features and course of four affected members are provided. Phenotype characterizations are important as the novel RFC1 mutation is expected to be a major cause of idiopathic late-onset ataxia.

Entities:  

Keywords:  CANVAS; RFC1; ataxia; cough

Mesh：

Substances：

Year:  2020        PMID： 33188504     DOI： 10.1007/s10072-020-04895-4

Source DB:  PubMed          Journal:  Neurol Sci        ISSN： 1590-1874            Impact factor:   3.307


  9 in total

1.  Chronic cough due to Thr124Met mutation in the peripheral myelin protein zero (MPZ gene).

Authors:  Robert H Baloh; Joanna C Jen; Gilbert Kim; Robert W Baloh
Journal:  Neurology       Date:  2004-05-25       Impact factor: 9.910

Review 2.  Proposed diagnostic criteria for cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS).

Authors:  David J Szmulewicz; Leslie Roberts; Catriona A McLean; Hamish G MacDougall; G Michael Halmagyi; Elsdon Storey
Journal:  Neurol Clin Pract       Date:  2016-02

Review 3.  CANVAS an update: clinical presentation, investigation and management.

Authors:  David J Szmulewicz; Catriona A McLean; Hamish G MacDougall; Leslie Roberts; Elsdon Storey; G Michael Halmagyi
Journal:  J Vestib Res       Date:  2014       Impact factor: 2.435

4.  Cerebellar ataxia with spasmodic cough: a new form of dominant ataxia.

Authors:  Paula Coutinho; Vítor T Cruz; Assunção Tuna; Sérgio E Silva; João Guimarães
Journal:  Arch Neurol       Date:  2006-04

5.  Autosomal dominant hereditary sensory neuropathy with chronic cough and gastro-oesophageal reflux: clinical features in two families linked to chromosome 3p22-p24.

Authors:  Penelope J Spring; Cindy Kok; Garth A Nicholson; Alvin J Ing; Judith M Spies; Mark L Bassett; John Cameron; Paul Kerlin; Simon Bowler; Roger Tuck; John D Pollard
Journal:  Brain       Date:  2005-12       Impact factor: 13.501

6.  Cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS) with chronic cough and preserved muscle stretch reflexes: evidence for selective sparing of afferent Ia fibres.

Authors:  Jon Infante; Antonio García; Karla M Serrano-Cárdenas; Rocío González-Aguado; José Gazulla; Enrique M de Lucas; José Berciano
Journal:  J Neurol       Date:  2018-04-25       Impact factor: 4.849

7.  Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia.

Authors:  Roisin Sullivan; Jana Vandrovcova; Mary M Reilly; Andrea Cortese; Roberto Simone; Huma Tariq; Wai Yan Yau; Jack Humphrey; Zane Jaunmuktane; Prasanth Sivakumar; James Polke; Muhammad Ilyas; Eloise Tribollet; Pedro J Tomaselli; Grazia Devigili; Ilaria Callegari; Maurizio Versino; Vincenzo Salpietro; Stephanie Efthymiou; Diego Kaski; Nick W Wood; Nadja S Andrade; Elena Buglo; Adriana Rebelo; Alexander M Rossor; Adolfo Bronstein; Pietro Fratta; Wilson J Marques; Stephan Züchner; Henry Houlden
Journal:  Nat Genet       Date:  2019-03-29       Impact factor: 38.330

8.  Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS.

Authors:  Haloom Rafehi; David J Szmulewicz; Mark F Bennett; Nara L M Sobreira; Kate Pope; Katherine R Smith; Greta Gillies; Peter Diakumis; Egor Dolzhenko; Michael A Eberle; María García Barcina; David P Breen; Andrew M Chancellor; Phillip D Cremer; Martin B Delatycki; Brent L Fogel; Anna Hackett; G Michael Halmagyi; Solange Kapetanovic; Anthony Lang; Stuart Mossman; Weiyi Mu; Peter Patrikios; Susan L Perlman; Ian Rosemergy; Elsdon Storey; Shaun R D Watson; Michael A Wilson; David S Zee; David Valle; David J Amor; Melanie Bahlo; Paul J Lockhart
Journal:  Am J Hum Genet       Date:  2019-06-20       Impact factor: 11.025

9.  Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion.

Authors:  Andrea Cortese; Stefano Tozza; Wai Yan Yau; Salvatore Rossi; Sarah J Beecroft; Zane Jaunmuktane; Zoe Dyer; Gianina Ravenscroft; Phillipa J Lamont; Stuart Mossman; Andrew Chancellor; Thierry Maisonobe; Yann Pereon; Cecile Cauquil; Silvia Colnaghi; Giulia Mallucci; Riccardo Curro; Pedro J Tomaselli; Gilbert Thomas-Black; Roisin Sullivan; Stephanie Efthymiou; Alexander M Rossor; Matilde Laurá; Menelaos Pipis; Alejandro Horga; James Polke; Diego Kaski; Rita Horvath; Patrick F Chinnery; Wilson Marques; Cristina Tassorelli; Grazia Devigili; Lea Leonardis; Nick W Wood; Adolfo Bronstein; Paola Giunti; Stephan Züchner; Tanya Stojkovic; Nigel Laing; Richard H Roxburgh; Henry Houlden; Mary M Reilly
Journal:  Brain       Date:  2020-02-01       Impact factor: 15.255
  9 in total
  1 in total

1.  Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (canvas): an important cause of late-onset ataxia with unique clinical features.

Authors:  Arman Çakar; Erdi Şahin; Seden Tezel; Ayşe Candayan; Bedia Samancı; Esra Battaloğlu; A Nazlı Başak; Başar Bilgiç; Haşmet Hanağası; Hacer Durmuş; Yeşim Parman
Journal:  Acta Neurol Belg       Date:  2021-06-08       Impact factor: 2.471
  1 in total

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