BMJ  2007;335:422-423 (1 September), doi:10.1136/bmj.39210.408414.AD

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First person

Silver syndrome

Stoke Mandeville Hospital, Wendover, Bucks HP22 6EA

When early in his career John Russell Silver described a previously unrecognised familial disease he expected it to remain a minor footnote in the medical record. But some 40 years later, identification of the gene responsible has led to research that is advancing our understanding of a wide spectrum of neurological diseases

The first 150 words of the full text of this article appear below.

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 . . . [Full text of this article]

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