Sweat Gland Denervation in Cerebellar Ataxia with Neuropathy and Vestibular Areflexia Syndrome (CANVAS)

Overview

Journal Mov Disord Clin Pract

Publisher Wiley

Specialty Neurology

Date 2018 Oct 27

PMID 30363403

Citations 8

Authors

Chizoba C Umeh

Michael Polydefkis

Vinay Chaudhry

David S Zee

Affiliations

Soon will be listed here.

Abstract

Cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS) is a newly recognized disorder characterized by cerebellar ataxia, nonlength-dependent sensory impairment, and bilateral vestibular loss. Sudomotor dysfunction has been described in CANVAS; however, the underlying pathology is not well characterized. To describe novel histopathological features of this syndrome, 2 siblings are presented who had CANVAS with unique findings of sweat gland denervation. Skin biopsy testing was performed to assess sudomotor structure and revealed markedly reduced sweat gland nerve fiber density below the 2.5th percentile in both patients. These histopathological findings suggest that postganglionic sudomotor dysfunction is an additional feature of CANVAS.

Citing Articles

An Updated Canvas of the RFC1-mediated CANVAS (Cerebellar Ataxia, Neuropathy and Vestibular Areflexia Syndrome).

Shukla S, Gupta K, Singh K, Mishra A, Kumar A Mol Neurobiol. 2024; 62(1):693-707.

PMID: 38898197 DOI: 10.1007/s12035-024-04307-0.

Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS): from clinical diagnosis towards genetic testing.

Thieme A, Depienne C, Timmann D Med Genet. 2024; 33(4):301-310.

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Multisystemic -Related Disorder: Expanding the Phenotype Beyond Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome.

Malaquias M, Braz L, Santos Silva C, Damasio J, Jorge A, Lemos J Neurol Clin Pract. 2023; 13(5):e200190.

PMID: 37674869 PMC: 10479936. DOI: 10.1212/CPJ.0000000000200190.

Severe distinct dysautonomia in RFC1-related disease associated with Parkinsonism.

Record C, Alnasser Alsukhni R, Curro R, Kaski D, Rubin J, Morris H J Peripher Nerv Syst. 2022; 27(4):311-315.

PMID: 36177974 PMC: 10092280. DOI: 10.1111/jns.12515.

Early Diagnosis in Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome (CANVAS) by Focusing on Major Clinical Clues: Beyond Ataxia and Vestibular Impairment.

Magy L, Chazelas P, Richard L, Deschamps N, Frachet S, Vallat J Biomedicines. 2022; 10(8).

PMID: 36009593 PMC: 9405877. DOI: 10.3390/biomedicines10082046.

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