FMR1 gene premutation is a frequent genetic cause of late-onset sporadic cerebellar ataxia

被引：63

作者：

Brussino, A

Gellera, C

Saluto, A

Mariotti, C

Arduino, C

Castellotti, B

Camerlingo, M

de Angelis, V

Orsi, L

Tosca, P

Migone, N

Taroni, F

Brusco, A

机构：

[1] Univ Turin, Dipartimento Genet Biol & Biochim, I-10126 Turin, Italy

[2] Osped San Giovanni Battista Torino, SC Genet Med, Turin, Italy

[3] IRCCS, Ist Nazl Neurol Carlo Besta, Unita Operat Biochim & Genet, Milan, Italy

[4] Policlin San Marco, Unita Operat Neurol, Bergamo, Italy

[5] Univ G DAnnunzio, Ctr Malattie Neuromuscolari, Chieti, Italy

[6] Univ Turin, Dipartimento Neurosci, Turin, Italy

[7] IRCCS, Ist Neurol C Mondino, Pavia, Italy

来源：

NEUROLOGY | 2005年 / 64卷 / 01期

关键词：

D O I：

10.1212/01.WNL.0000148723.37489.3F

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

In an Italian population of 275 unrelated men affected by adult-onset sporadic progressive cerebellar ataxia, the authors found six patients carrying an FMR1 gene premutation. Age at onset ( range, 53 to 69 years) and clinical-neuropathologic findings were consistent with the fragile-X tremor ataxia syndrome (FXTAS), although tremor was not as common as previously described. FXTAS accounted for 4.2% of the cases diagnosed at >50 years, suggesting that it is a frequent genetic cause of late-onset sporadic ataxia.

引用

页码：145 / 147

页数：3

共 11 条

[1]

Allingham-Hawkins SJ, 1999, AM J MED GENET, V83, P322, DOI 10.1002/(SICI)1096-8628(19990402)83:4<322::AID-AJMG17>3.0.CO

[2]

2-B

[3]

Brunberg JA, 2002, AM J NEURORADIOL, V23, P1757

[4] Premutation and intermediate-size FMR1 alleles in 10,572 males from the general population:: Loss of an AGG interruption is a late event in the generation of fragile X syndrome alleles [J].

Dombrowski, C ;

Lévesque, S ;

Morel, ML ;

Rouillard, P ;

Morgan, K ;

Rousseau, F .

HUMAN MOLECULAR GENETICS, 2002, 11 (04) :371-378

[5] Fragile-X-associated tremor/ataxia syndrome (FXTAS) in females with the FMR1 premutation [J].

Hagerman, RJ ;

Leavitt, BR ;

Farzin, F ;

Jacquemont, S ;

Greco, CM ;

Brunberg, JA ;

Tassone, F ;

Hessl, D ;

Harris, SW ;

Zhang, L ;

Jardini, T ;

Gane, LW ;

Ferranti, J ;

Ruiz, L ;

Leehey, MA ;

Grigsby, J ;

Hagerman, PJ .

AMERICAN JOURNAL OF HUMAN GENETICS, 2004, 74 (05) :1051-1056

[6] The fragile X premutation: into the phenotypic fold [J].

Hagerman, RJ ;

Hagerman, PJ .

CURRENT OPINION IN GENETICS & DEVELOPMENT, 2002, 12 (03) :278-283

[7] Penetrance of the fragile X - Associated tremor/ataxia syndrome in a premutation carrier population [J].

Jacquemont, S ;

Hagerman, RJ ;

Leehey, MA ;

Hall, DA ;

Levine, RA ;

Brunberg, JA ;

Zhang, L ;

Jardini, T ;

Gane, LW ;

Harris, SW ;

Herman, K ;

Grigsby, J ;

Greco, CM ;

Berry-Kravis, E ;

Tassone, F ;

Hagerman, PJ .

JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION, 2004, 291 (04) :460-469

[8] Fragile X premutation tremor/ataxia syndrome: Molecular, clinical, and neuroimaging correlates [J].

Jacquemont, S ;

Hagerman, RJ ;

Leehey, M ;

Grigsby, J ;

Zhang, L ;

Brunberg, JA ;

Greco, C ;

Des Portes, V ;

Jardini, T ;

Levine, R ;

Berry-Kravis, E ;

Brown, WT ;

Schaeffer, S ;

Kissel, J ;

Tassone, F ;

Hagerman, PJ .

AMERICAN JOURNAL OF HUMAN GENETICS, 2003, 72 (04) :869-878

[9] Observation of an excess of fragile-X premutations in a population of males referred with spinocerebellar ataxia [J].

Macpherson, J ;

Waghorn, A ;

Hammans, S ;

Jacobs, P .

HUMAN GENETICS, 2003, 112 (5-6) :619-620

[10] Fragile X carrier screening and spinocerebellar ataxia in older males [J].

Milunsky, JM ;

Maher, TA .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2004, 125A (03) :320-320

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