HISTORICAL NOTE: Tuberous sclerosis complex and its founders

Jansen, F. E.; van Nieuwenhuizen, O.; van Huffelen, A. C.
May 2004
Journal of Neurology, Neurosurgery & Psychiatry;May2004, Vol. 75 Issue 5, p770
Academic Journal
The names of Désiré Magloire Bourneville and John James Pringle are associated with the disease but they were not the first who reported patients with signs later defined as the diagnostic criteria. Reports start in the 19th century and are based on descriptions of clinical and pathological findings. The lesions were renamed adenoma sebaceum by Pringle. He also mentioned the associated mental subnormality. Positional cloning studies led to the identification of tuberous sclerosis complex1 with the locus on chromosome 9.


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