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Neurology. 2014 Apr 22;82(16):1410-5. doi: 10.1212/WNL.0000000000000352. Epub 2014 Mar 28.

Dorsal root ganglionopathy is responsible for the sensory impairment in CANVAS.

Author information

1
From the University of Melbourne (D.J.S.), Royal Victorian Eye & Ear Hospital, Melbourne, Australia; Department of Anatomical Pathology (C.A.M.), Alfred Hospital, Melbourne, Australia; Department of Forensic Medicine (M.L.R.), New South Wales Pathology, New South Wales, Australia; Department of Medicine (A.M.C.), Tauranga Hospital, Wellington, New Zealand; Department of Neurology (S.M.), Capital Coast Health, Wellington, New Zealand; Pathology (D.L.), Waikato Hospital, Hamilton, Waikato, New Zealand; Department of Neuroscience (L.R.), St Vincent's Hospital, Melbourne, Australia; Department of Neuroscience (E.S.), Monash University, Melbourne, Australia; and Department of Neurology (G.M.H.), Royal Prince Alfred Hospital, Sydney, Australia.

Abstract

OBJECTIVE:

To elucidate the neuropathology in cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (CANVAS), a novel cerebellar ataxia comprised of the triad of cerebellar impairment, bilateral vestibular hypofunction, and a peripheral sensory deficit.

METHOD:

Brain and spinal neuropathology in 2 patients with CANVAS, together with brain and otopathology in another patient with CANVAS, were examined postmortem.

RESULTS:

Spinal cord pathology demonstrated a marked dorsal root ganglionopathy with secondary tract degeneration. Cerebellar pathology showed loss of Purkinje cells, predominantly in the vermis.

CONCLUSION:

The likely underlying sensory pathology in CANVAS is loss of neurons from the dorsal root and V, VII, and VIII cranial nerve ganglia-in other words, it is a "neuronopathy" rather than a "neuropathy." Clinically, CANVAS is a differential diagnosis for both spinocerebellar ataxia type 3 (or Machado-Joseph disease) and Friedreich ataxia. In addition, there are 6 sets of sibling pairs, implying that CANVAS is likely to be a late-onset recessive or autosomal dominant with reduced penetrance disorder, and identification of the culprit gene is currently a target of investigation.

PMID:
24682971
PMCID:
PMC4001192
DOI:
10.1212/WNL.0000000000000352
[Indexed for MEDLINE]
Free PMC Article
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