Manifestaciones neurológicas en el adulto con premutación X frágil
Otros títulos : 
Neurological signs in the adult with fragile-X premutation
Palabras clave : 
Fragile X permutation
Tremor/ataxia syndrome
Cognitive deficit
Fecha de publicación: 
2010
Editorial : 
Elsevier España
ISSN: 
0213-4853
Cita: 
Cabanyes-Truffino J. Manifestaciones neurológicas en el adulto con premutación X frágil. Neurologia 2010 May;25(4):222-227.
Resumen
Introduction: Fragile X syndrome is an inherited form of mental retardation. It results from an abnormally expanded number of trinucleotide CGG repeats. Some grandfathers of these children become forgetful, have frequent falls and other neurological problems. Researchers have found a connection between fragile X syndrome and the neurological symptoms in elderly men. This resulted in the recognition of a syndrome originally referred to as ‘‘intention tremor, parkinsonism and generalised brain atrophy in carriers of a fragile X premutation’’. This premutation is also associated with premature ovarian failure.

Ficheros en este registro:
Fichero: 
Neurologia 2010. 222.pdf
Descripción: 
Tamaño: 
169,92 kB
Formato: 
Adobe PDF


Los ítems de Dadun están protegidos por copyright, con todos los derechos reservados, a menos que se indique lo contrario.