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- W2019983997 abstract "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. This paper reviews the literature on the neurological signs of fragile X premutation. Fragile X premutation is a risk for movement disorders and cognitive dysfunction and it should be considered in patients with a family history of mental retardation or autism, and particularly in those females with premature ovarian failure. El síndrome X frágil es una forma de retraso mental heredado. Es consecuencia de una expansión anormal del número de repeticiones del trinucleótido CGG. Algunos abuelos de estos niños llegan a ser olvidadizos, tienen frecuentes caídas y sufren otros problemas neurológicos. Los investigadores han encontrado una conexión entre el síndrome X frágil y los síntomas neurológicos de los ancianos. Esto ha llevado a reconocer un síndrome inicialmente denominado “temblor intencional, parkinsonismo y atrofia cerebral generalizada en portadores de premutación X frágil”. Al mismo tiempo, en las mujeres, la premutación se ha asociado a fallo ovárico prematuro. Este artículo revisa la bibliografía acerca de las manifestaciones neurológicas de la premutación X frágil. La premutación X frágil supone un riesgo de sufrir trastornos del movimiento y disfunciones cognitivas y debe considerarse en pacientes con una historia familiar de retraso mental o autismo y, particularmente, en mujeres con fallo ovárico prematuro." @default.
- W2019983997 created "2016-06-24" @default.
- W2019983997 creator A5068532981 @default.
- W2019983997 date "2010-01-01" @default.
- W2019983997 modified "2023-09-27" @default.
- W2019983997 title "Neurological signs in the adult with fragile-X premutation" @default.
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- W2019983997 cites W1983178344 @default.
- W2019983997 cites W1986804263 @default.
- W2019983997 cites W1989565891 @default.
- W2019983997 cites W1994798958 @default.
- W2019983997 cites W1995729248 @default.
- W2019983997 cites W1997849167 @default.
- W2019983997 cites W1999830666 @default.
- W2019983997 cites W2000064832 @default.
- W2019983997 cites W2001791299 @default.
- W2019983997 cites W2001974714 @default.
- W2019983997 cites W2005078842 @default.
- W2019983997 cites W2008906203 @default.
- W2019983997 cites W2011293870 @default.
- W2019983997 cites W2017722728 @default.
- W2019983997 cites W2021703653 @default.
- W2019983997 cites W2022528625 @default.
- W2019983997 cites W2022983438 @default.
- W2019983997 cites W2024718631 @default.
- W2019983997 cites W2026219860 @default.
- W2019983997 cites W2031234048 @default.
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- W2019983997 cites W2038561863 @default.
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- W2019983997 cites W2045559625 @default.
- W2019983997 cites W2046162980 @default.
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- W2019983997 cites W2051219679 @default.
- W2019983997 cites W2052750883 @default.
- W2019983997 cites W2055107769 @default.
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- W2019983997 cites W2069895304 @default.
- W2019983997 cites W2077967214 @default.
- W2019983997 cites W2078536661 @default.
- W2019983997 cites W2081066023 @default.
- W2019983997 cites W2082702032 @default.
- W2019983997 cites W2085124069 @default.
- W2019983997 cites W2085555948 @default.
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- W2019983997 cites W2104173883 @default.
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- W2019983997 doi "https://doi.org/10.1016/s2173-5808(10)70045-6" @default.
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- W2019983997 hasPublicationYear "2010" @default.
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