A 59 year old woman presented with a 3 year history of impaired sensation and episodes of burning pain in her fingers. She had similar but milder symptoms in her feet. These sensory symptoms were more prominent in the cold. She had no limb weakness or autonomic symptoms. She did not report any skin rash. There was no other relevant medical history in particular there was no history suggestive of cerebrovascular or cardiac disease. She did not smoke and drank four units of alcohol per week.

She was the third of six siblings (two older sisters, two younger brothers and a younger sister). Her siblings and their children had no history of neurological disease.

Her father was reported to have Fabry disease and died at the age of 69 from heart failure. Her mother died aged 89 but had no relevant medical history. Further extensive family history on both sides of the family was unremarkable except for sudden death of a maternal uncle at the age of 40.