Tags

Type your tag names separated by a space and hit enter

Dorsal root ganglionopathy is responsible for the sensory impairment in CANVAS.
Neurology. 2014 Apr 22; 82(16):1410-5.Neur

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.

Authors+Show Affiliations

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.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

24682971

Citation

Szmulewicz, David J., et al. "Dorsal Root Ganglionopathy Is Responsible for the Sensory Impairment in CANVAS." Neurology, vol. 82, no. 16, 2014, pp. 1410-5.
Szmulewicz DJ, McLean CA, Rodriguez ML, et al. Dorsal root ganglionopathy is responsible for the sensory impairment in CANVAS. Neurology. 2014;82(16):1410-5.
Szmulewicz, D. J., McLean, C. A., Rodriguez, M. L., Chancellor, A. M., Mossman, S., Lamont, D., Roberts, L., Storey, E., & Halmagyi, G. M. (2014). Dorsal root ganglionopathy is responsible for the sensory impairment in CANVAS. Neurology, 82(16), 1410-5. https://doi.org/10.1212/WNL.0000000000000352
Szmulewicz DJ, et al. Dorsal Root Ganglionopathy Is Responsible for the Sensory Impairment in CANVAS. Neurology. 2014 Apr 22;82(16):1410-5. PubMed PMID: 24682971.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Dorsal root ganglionopathy is responsible for the sensory impairment in CANVAS. AU - Szmulewicz,David J, AU - McLean,Catriona A, AU - Rodriguez,Michael L, AU - Chancellor,Andrew M, AU - Mossman,Stuart, AU - Lamont,Duncan, AU - Roberts,Leslie, AU - Storey,Elsdon, AU - Halmagyi,G Michael, Y1 - 2014/03/28/ PY - 2014/4/1/entrez PY - 2014/4/1/pubmed PY - 2014/6/6/medline SP - 1410 EP - 5 JF - Neurology JO - Neurology VL - 82 IS - 16 N2 - 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. SN - 1526-632X UR - https://wwww.unboundmedicine.com/medline/citation/24682971/Dorsal_root_ganglionopathy_is_responsible_for_the_sensory_impairment_in_CANVAS_ L2 - http://www.neurology.org/cgi/pmidlookup?view=long&pmid=24682971 DB - PRIME DP - Unbound Medicine ER -