It is impossible to predict which of the thousands of papers published each year will be important and which will be consigned to the dustbin of obscurity. Only time will show their proper role, but the exact way in which a disease was recognised is easily forgotten.
In 1959, at the beginning of my career I was working as a registrar in neurology at the Middlesex Hospital, when a young girl presented with a wasted hand and spastic lower limbs. She denied that any other members of her family were affected. I thought that she had an intrinsic tumour of the spinal cord and she was admitted for investigation, but a myelogram found no abnormality.
She subsequently developed a sterile meningitis and became very ill, and her mother came to visit her in hospital. The house officer shrewdly observed that the mother had a similar spastic gait to that of her daughter. The mother was examined and on questioning, it turned out that other members of the family were affected.
Her great aunt had been admitted in 1912 to the National Hospital for Nervous Diseases with a similar condition. She was thought to have either a myopathy or progressive muscular atrophy and was discharged after three months of study. The diagnosis was not established.
Her aunt had been investigated at the London Hospital in 1954 after difficulty in walking and weakness in the hands when she was 19. She was found to have wasting of the abductor pollicis brevis and opponens on both sides, with some weakness of the interossei. She had bilateral carpal tunnel syndrome diagnosed, with the pyramidal signs being attributed to a congenital lesion of the pyramidal tracts.
My attention was drawn to another family when a man was admitted for a cataract operation and was observed to have severe bilateral wasting of the small muscles of his hands and spastic lower limbs. This had been present since the age of 16 but did not prevent his serving in the first world war. Other members of the family were known to be similarly affected.