Epilepsy, dementia and yellow teeth: some remarks on multiorgan involvement in neurogenetic disorders commentary to Musumeci's paper ( Brain Dev 1995; 17 133–138)

Abstract

Genetic neurological disorders are often seen together with symptoms not related to the nervous system. Although such combinations can appear bizarre and unintelligible, their common pathogenetic link should always be sought. Multiple, apparently unrelated phenotypic signs may be explained by a single gene mutation (through a variety of mechanisms), a chromosomal aberration or a contiguous gene alteration such as is probably the explanation for the amelo-cerebro-hypohydrotic syndrome.