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Department of Neurology, University Hospital Basel, Basel, SwitzerlandDivision of Audiology and Neurootology, Department of ORL, University Hospital Basel, Basel, Switzerland
We report on a 65-year old patient referred to our department with progressive gait
ataxia and oscillopsia. Approximately 6 years before, the patient had developed an unsteadiness of gait, especially on uneven
ground. There was no history of aminoglycoside therapy. His family history was unremarkable.
On clinical examination downbeat nystagmus, bilateral horizontal gaze-evoked nystagmus
and saccadic smooth pursuit were apparent. The clinical head-impulse test was pathologic
to both sides. The patients' speech appeared slurred. Both triceps surae reflexes
were absent. Position sense in the lower extremities, tested at the proximal joint
of Dig. I, was heavily impaired. There was only mild limb ataxia with signs of intentional
tremor in both upper extremities. Standing with eyes closed during the Romberg-test
was not possible. Gait in general appeared ataxic and insecure. Taken together, there
was cerebellar ataxia, neuropathy and signs of bilateral vestibulopathy, which lead
to the tentative diagnosis of CANVAS (cerebellar ataxia with neuropathy and vestibular
areflexia syndrome) [
]. Neuropathy was confirmed by nerve conduction studies showing afferent nerve pathology
in upper and lower extremities with decreased or absent sensory nerve action potentials.
Motor neurography and motor evoked potentials in the upper and lower extremities were
normal. Brain and myelon 3-Tesla MRI showed cerebellar atrophy of the upper vermis,
Crus I and especially vermal lobules VI, VIIa, VIIb (Fig. 1). The flocculus appeared only slightly atrophic when compared to MRI-scans of normal
age-matched persons. The brainstem and myelon were unaffected. Extensive laboratory
testing in serum and cerebro-spinal fluid including protein electrophoresis, vitamin
B1, B6, B12, E, thyroid hormones, HbA1c, coeruloplasmin, anti-gliadin, anti-t-transglutaminase, anti-Hu, -Yo, -Ri, -CV2, -Ma1, -Ma2, -amphiphysin, was unremarkable.
Genetic testing for spinocerebellar ataxia types 1,2,3,6,7, and 17 and Friedreich-ataxia,
was negative as recently recommended as a requirement for establishing the diagnosis
of CANVAS [
Fig. 1Cerebellar atrophy of the anterior und posterior vermal lobules VI-VIIa & b and atrophy
of Crus I. Shown are T1 weighted MRIs in the midsagittal plane and the parasaggital
plane.
