Síndrome de temblor y ataxia asociado a síndrome del cromosoma X frágil: un nuevo tipo de ataxia cerebelosa asociada a los portadores del síndrome del cromosoma X frágil

Montserrat Mil; Irene Madrigal; Jaime Kulisevsky; Javier Pagonabarraga; Beatriz Gómez; Aurora Sánchez; Laia Rodríguez-Revenga

doi:10.1016/j.medcli.2008.12.032

Síndrome de temblor y ataxia asociado a síndrome del cromosoma X frágil: un nuevo tipo de ataxia cerebelosa asociada a los portadores del síndrome del cromosoma X frágil

Translated title of the contribution: Fragile X tremor ataxia syndrome (FXTAS): A new kind of spinocerebelar ataxia associated to fragile X syndrome premutation carriers

Montserrat Mil, Irene Madrigal, Jaime Kulisevsky, Javier Pagonabarraga, Beatriz Gómez, Aurora Sánchez, Laia Rodríguez-Revenga

Research output: Contribution to journal › Research Article › peer-review

2 Scopus citations

Abstract

Background and objectives: It has been estimated that 1:1233 males and 1:411 female sare FMR1 premutated carriers. This gene is responsible for the fragile X syndrome. Patients and method: Among 398 fragile X syndrome families, we evaluated 112 premutated carrier solder than 50 year. Results: FXTAS penetrance among fragile X families was 10.7% for female premutated carriers and 29.7% for male premutated carriers. In the general population, it was estimated that 1:4,000 females and 1:5,000 males will develop the FXTAS syndrome. Conclusions: Besides the risk for fragile X syndrome, the genetic counseling in premutation carriers should mention the risk for FXTAS. This syndrome should also be taken in to account among spinocerebelar ataxia patients with an unknown etiology.

Translated title of the contribution	Fragile X tremor ataxia syndrome (FXTAS): A new kind of spinocerebelar ataxia associated to fragile X syndrome premutation carriers
Original language	Spanish
Pages (from-to)	252-254
Number of pages	3
Journal	Medicina Clinica
Volume	133
Issue number	7
DOIs	https://doi.org/10.1016/j.medcli.2008.12.032
State	Published - Jul 18 2009
Externally published	Yes

All Science Journal Classification (ASJC) codes

General Medicine

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Mil, M., Madrigal, I., Kulisevsky, J., Pagonabarraga, J., Gómez, B., Sánchez, A., & Rodríguez-Revenga, L. (2009). Síndrome de temblor y ataxia asociado a síndrome del cromosoma X frágil: un nuevo tipo de ataxia cerebelosa asociada a los portadores del síndrome del cromosoma X frágil. Medicina Clinica, 133(7), 252-254. https://doi.org/10.1016/j.medcli.2008.12.032

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title = "S{\'i}ndrome de temblor y ataxia asociado a s{\'i}ndrome del cromosoma X fr{\'a}gil: un nuevo tipo de ataxia cerebelosa asociada a los portadores del s{\'i}ndrome del cromosoma X fr{\'a}gil",

abstract = "Background and objectives: It has been estimated that 1:1233 males and 1:411 female sare FMR1 premutated carriers. This gene is responsible for the fragile X syndrome. Patients and method: Among 398 fragile X syndrome families, we evaluated 112 premutated carrier solder than 50 year. Results: FXTAS penetrance among fragile X families was 10.7\% for female premutated carriers and 29.7\% for male premutated carriers. In the general population, it was estimated that 1:4,000 females and 1:5,000 males will develop the FXTAS syndrome. Conclusions: Besides the risk for fragile X syndrome, the genetic counseling in premutation carriers should mention the risk for FXTAS. This syndrome should also be taken in to account among spinocerebelar ataxia patients with an unknown etiology.",

author = "Montserrat Mil and Irene Madrigal and Jaime Kulisevsky and Javier Pagonabarraga and Beatriz G{\'o}mez and Aurora S{\'a}nchez and Laia Rodr{\'i}guez-Revenga",

year = "2009",

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day = "18",

doi = "10.1016/j.medcli.2008.12.032",

language = "Espa{\~n}ol",

volume = "133",

pages = "252--254",

journal = "Medicina Clinica",

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Mil, M, Madrigal, I, Kulisevsky, J, Pagonabarraga, J, Gómez, B, Sánchez, A & Rodríguez-Revenga, L 2009, 'Síndrome de temblor y ataxia asociado a síndrome del cromosoma X frágil: un nuevo tipo de ataxia cerebelosa asociada a los portadores del síndrome del cromosoma X frágil', Medicina Clinica, vol. 133, no. 7, pp. 252-254. https://doi.org/10.1016/j.medcli.2008.12.032

Síndrome de temblor y ataxia asociado a síndrome del cromosoma X frágil: un nuevo tipo de ataxia cerebelosa asociada a los portadores del síndrome del cromosoma X frágil. / Mil, Montserrat; Madrigal, Irene; Kulisevsky, Jaime et al.
In: Medicina Clinica, Vol. 133, No. 7, 18.07.2009, p. 252-254.

Research output: Contribution to journal › Research Article › peer-review

TY - JOUR

T1 - Síndrome de temblor y ataxia asociado a síndrome del cromosoma X frágil

T2 - un nuevo tipo de ataxia cerebelosa asociada a los portadores del síndrome del cromosoma X frágil

AU - Mil, Montserrat

AU - Madrigal, Irene

AU - Kulisevsky, Jaime

AU - Pagonabarraga, Javier

AU - Gómez, Beatriz

AU - Sánchez, Aurora

AU - Rodríguez-Revenga, Laia

PY - 2009/7/18

Y1 - 2009/7/18

N2 - Background and objectives: It has been estimated that 1:1233 males and 1:411 female sare FMR1 premutated carriers. This gene is responsible for the fragile X syndrome. Patients and method: Among 398 fragile X syndrome families, we evaluated 112 premutated carrier solder than 50 year. Results: FXTAS penetrance among fragile X families was 10.7% for female premutated carriers and 29.7% for male premutated carriers. In the general population, it was estimated that 1:4,000 females and 1:5,000 males will develop the FXTAS syndrome. Conclusions: Besides the risk for fragile X syndrome, the genetic counseling in premutation carriers should mention the risk for FXTAS. This syndrome should also be taken in to account among spinocerebelar ataxia patients with an unknown etiology.

AB - Background and objectives: It has been estimated that 1:1233 males and 1:411 female sare FMR1 premutated carriers. This gene is responsible for the fragile X syndrome. Patients and method: Among 398 fragile X syndrome families, we evaluated 112 premutated carrier solder than 50 year. Results: FXTAS penetrance among fragile X families was 10.7% for female premutated carriers and 29.7% for male premutated carriers. In the general population, it was estimated that 1:4,000 females and 1:5,000 males will develop the FXTAS syndrome. Conclusions: Besides the risk for fragile X syndrome, the genetic counseling in premutation carriers should mention the risk for FXTAS. This syndrome should also be taken in to account among spinocerebelar ataxia patients with an unknown etiology.

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DO - 10.1016/j.medcli.2008.12.032

M3 - Artículo de Investigación

C2 - 19473671

AN - SCOPUS:68349105794

SN - 0025-7753

VL - 133

SP - 252

EP - 254

JO - Medicina Clinica

JF - Medicina Clinica

IS - 7

ER -

Síndrome de temblor y ataxia asociado a síndrome del cromosoma X frágil: un nuevo tipo de ataxia cerebelosa asociada a los portadores del síndrome del cromosoma X frágil

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