Abstract

1. WHAT FURTHER DIAGNOSTIC TEST WAS CARRIED OUT?

A 68-year-old man presented with a 2-year history of a postural and action tremor of the upper limbs, and latterly unsteadiness. There were no other neurological symptoms, he was otherwise well, on no medication. A maternal aunt may have had a tremor. On examination, he had a postural and action tremor of the upper limbs which looked similar to an essential tremor, he had mild but definite cerebellar ataxia of gait, and absent deep tendon reflexes in his legs. There were no long tract signs, cognitive or eye movement disturbances, or parkinsonian features.

The following tests were all normal or negative: MR brain scan, nerve conduction studies and electromyography, full blood count, ESR, biochemical screen including thyroid function, autoantibody screen, immunoglobulin screen and electrophoresis, and DNA analysis for the known SCA mutations.

Richard Davenport, Edinburgh

2. WHAT IS YOUR DIAGNOSIS?

A 40-year-old