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Case 13

BM Chaharyn1, V Hirsch-Reinshagen1 J Barton2, H Nygaard2 and IR Mackenzie1

1Divisions of Neuropathology and 2Neurology, University of British Columbia, Vancouver, BC.

This Chinese man was well until age 47 when he began to develop progressive problems with balance, focal sensory changes and blurred vision. Examination at age 51 found normal visual acuity, fundoscopy and eye movements, but with horizontal nystagmus (resting and gaze-evoked), oscillopsia and dysmetric saccades. There was mild ataxia with lower limb dysmetria and wide-based gait, mild weakness of hip flexors and mild stocking-glove sensory loss. Nerve conduction studies were normal apart from mild left ulnar neuropathy. Somatosensory potentials were delayed in the extremities and auditory-evoked potentials had low amplitudes and prolonged latencies. MRI showed atrophy and signal change restricted to the medulla and cervical spinal cord.

The patient subsequently developed progressive cognitive deficits with impaired short term memory, personality change and anosognosia (MoCA 22/30). His imbalance and weakness progressed, leaving him wheelchair dependent. He also developed dysarthria and dysphagia, neurogenic bladder and orthostatic hypotension. He died at age 62 following an episode of aspiration pneumonia.

There was a strong family history of movement disorder and dementia.


Material submitted:    Scanned image of H&E stained section of cerebellum.


Questions:                   Diagnosis?

                                    Does this fully explain his clinical syndrome?