Clinical Summary

The family of this 58-year-old woman requested a neurological examination by a clinician who was familiar with the history of her condition. On examination, the examiner found her to be bed-bound, demented, voiceless, and quadriplegic. Reflexes were absent, and she did not respond to sensory stimulation.

The patient belonged to a large family with several members who were affected by a similar illness, including her mother.

Autosomal dominant transmission had been diagnosed years earlier at the National Institutes of Health in a relative.

Discussion points

1. Differential diagnosis