Recent developments in molecular genetics have had a profound influence on the diagnosis and classification of inherited movement disorders. Parkinson's disease occurs in familial aggregation and one gene has recently been mapped. Eight genes responsible for different inherited dystonia syndromes have been mapped, and two of them have been identified. Essential tremor also occurs in familial aggregation and a first gene has recently been mapped. Huntington's disease is caused by the expansion of an unstable trinucleotide repeat sequence. Molecular diagnosis can easily be performed, and the study of the effects of the repeat expansion on the function of the encoded protein will help in understanding the pathogenesis of the disease. Wilson's disease is caused by a large number of different mutations in a copper-binding ATPase gene. The genetic basis of Gilles de la Tourette's syndrome is still obscure. The available data indicate that movement disorders are in most cases genetically heterogeneous. Molecular genetics will provide new classifications for these rather common disorders.
The genetic basis of movement disorders
Valente E. M.;
1998-01-01
Abstract
Recent developments in molecular genetics have had a profound influence on the diagnosis and classification of inherited movement disorders. Parkinson's disease occurs in familial aggregation and one gene has recently been mapped. Eight genes responsible for different inherited dystonia syndromes have been mapped, and two of them have been identified. Essential tremor also occurs in familial aggregation and a first gene has recently been mapped. Huntington's disease is caused by the expansion of an unstable trinucleotide repeat sequence. Molecular diagnosis can easily be performed, and the study of the effects of the repeat expansion on the function of the encoded protein will help in understanding the pathogenesis of the disease. Wilson's disease is caused by a large number of different mutations in a copper-binding ATPase gene. The genetic basis of Gilles de la Tourette's syndrome is still obscure. The available data indicate that movement disorders are in most cases genetically heterogeneous. Molecular genetics will provide new classifications for these rather common disorders.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
