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@article{Cortese:2020:brain/awz418,
author = {Cortese, A and Tozza, S and Yau, WY and Rossi, S and Beecroft, SJ and Jaunmuktane, Z and Dyer, Z and Ravenscroft, G and Lamont, PJ and Mossman, S and Chancellor, A and Maisonobe, T and Pereon, Y and Cauquil, C and Colnaghi, S and Mallucci, G and Curro, R and Tomaselli, PJ and Thomas-Black, G and Sullivan, R and Efthymiou, S and Rossor, AM and Laurá, M and Pipis, M and Horga, A and Polke, J and Kaski, D and Horvath, R and Chinnery, PF and Marques, W and Tassorelli, C and Devigili, G and Leonardis, L and Wood, NW and Bronstein, A and Giunti, P and Züchner, S and Stojkovic, T and Laing, N and Roxburgh, RH and Houlden, H and Reilly, MM},
doi = {brain/awz418},
journal = {Brain},
pages = {480--490},
title = {Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion.},
url = {http://dx.doi.org/10.1093/brain/awz418},
volume = {143},
year = {2020}
}

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TY  - JOUR
AB  - Ataxia, causing imbalance, dizziness and falls, is a leading cause of neurological disability. We have recently identified a biallelic intronic AAGGG repeat expansion in replication factor complex subunit 1 (RFC1) as the cause of cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS) and a major cause of late onset ataxia. Here we describe the full spectrum of the disease phenotype in our first 100 genetically confirmed carriers of biallelic repeat expansions in RFC1 and identify the sensory neuropathy as a common feature in all cases to date. All patients were Caucasian and half were sporadic. Patients typically reported progressive unsteadiness starting in the sixth decade. A dry spasmodic cough was also frequently associated and often preceded by decades the onset of walking difficulty. Sensory symptoms, oscillopsia, dysautonomia and dysarthria were also variably associated. The disease seems to follow a pattern of spatial progression from the early involvement of sensory neurons, to the later appearance of vestibular and cerebellar dysfunction. Half of the patients needed walking aids after 10 years of disease duration and a quarter were wheelchair dependent after 15 years. Overall, two-thirds of cases had full CANVAS. Sensory neuropathy was the only manifestation in 15 patients. Sixteen patients additionally showed cerebellar involvement, and six showed vestibular involvement. The disease is very likely to be underdiagnosed. Repeat expansion in RFC1 should be considered in all cases of sensory ataxic neuropathy, particularly, but not only, if cerebellar dysfunction, vestibular involvement and cough coexist.
AU  - Cortese,A
AU  - Tozza,S
AU  - Yau,WY
AU  - Rossi,S
AU  - Beecroft,SJ
AU  - Jaunmuktane,Z
AU  - Dyer,Z
AU  - Ravenscroft,G
AU  - Lamont,PJ
AU  - Mossman,S
AU  - Chancellor,A
AU  - Maisonobe,T
AU  - Pereon,Y
AU  - Cauquil,C
AU  - Colnaghi,S
AU  - Mallucci,G
AU  - Curro,R
AU  - Tomaselli,PJ
AU  - Thomas-Black,G
AU  - Sullivan,R
AU  - Efthymiou,S
AU  - Rossor,AM
AU  - Laurá,M
AU  - Pipis,M
AU  - Horga,A
AU  - Polke,J
AU  - Kaski,D
AU  - Horvath,R
AU  - Chinnery,PF
AU  - Marques,W
AU  - Tassorelli,C
AU  - Devigili,G
AU  - Leonardis,L
AU  - Wood,NW
AU  - Bronstein,A
AU  - Giunti,P
AU  - Züchner,S
AU  - Stojkovic,T
AU  - Laing,N
AU  - Roxburgh,RH
AU  - Houlden,H
AU  - Reilly,MM
DO  - brain/awz418
EP  - 490
PY  - 2020///
SP  - 480
TI  - Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion.
T2  - Brain
UR  - http://dx.doi.org/10.1093/brain/awz418
UR  - https://www.ncbi.nlm.nih.gov/pubmed/32040566
VL  - 143
ER  -

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