C A N V A S

Cerebellar ataxia, neuropathia, vestibular areflexia syndrome

C A N V A S

Cerebellar ataxia, neuropathia, vestibular areflexia syndrome

Dušan PavlovićHearing and Balance Center

Vestibular function testing

DusanPavlovic.com March 30th 2015

positive VVOR test very characteristic

deficit in 3 compensatory eye movements:SP /smooth pursuit/OKR /optokinetic reflex/VOR /vestibulo ocular refles/

Vestibular function testing

DusanPavlovic.com March 30th 2015

Peripheral neuropathy integral part of this syndrome

MR finding (vermis atrophy)

Clinical presentation

DusanPavlovic.com

60yr mean age, equal sex distribution 11yr after onset instability dyasthesia oscillopsia dizziness intrinsic falls

March 30th 2015

Cerebellar dysfunction

DusanPavlovic.com

gaze evoked Ny, downbeat Ny saccadic smooth pursuit gait ataxia dysarthria appendicular ataxia

March 30th 2015

Vestibular function testing

DusanPavlovic.com

Severely reduced response at caloric testing and/or perverted Ny Absent VOR with large overt saccades Decreased DVA VVOR reduced

March 30th 2015

Non-length dependent sensory deficit

DusanPavlovic.com

absent ankle jerks impaired vibration sensation deficit of pin-prick sensation sural nerve biopsy: severe axonal loss loss of upper and lower limb SNAP

March 30th 2015

Autonomic dysfunction

DusanPavlovic.com

orthostatic hypotension hypohidrosis persistent cough vagal neuronopathy ?

March 30th 2015

MRI findings, Cerebellar atrophy:

DusanPavlovic.com

antherior and dorsal vermis lobules VI, VIIa and VIIb hemispheric crus I no atrophy in the early disease process

March 30th 2015

Hystopathologic finding

DusanPavlovic.com

vestibular nerve, Scarpa's ganglion facial nerve, geniculate ganglion trigeminal nerve, trigeminal ganglion atrophy dorsal root ganglia Reduction of Purkinje cells cochlear neuron and spiral gangion NOT affected

March 30th 2015

Diferential diagnosis

DusanPavlovic.com

MSA multiple system atrophy Creutzfeldt-Jakob disease Machado-Joseph / SCA3 Wernicke encephalopathy Late onset Friedreich ataxia

March 30th 2015

Conclusions

DusanPavlovic.com March 30th 2015

Etiology unknownLate-onset recessive disorder

Easy to diagnose, positive VVOR

In patient with imbalanceInvestigation for all three manifestations of CANVAS

In CABV patients – perform NCS