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Literature DB >> 15052536

The fragile-X premutation: a maturing perspective.

Abstract

Carriers of premutation alleles (55-200 CGG repeats) of the fragile-X mental retardation 1 (FMR1) gene are often regarded as being clinically uninvolved. However, it is now apparent that such individuals can present with one (or more) of three distinct clinical disorders: mild cognitive and/or behavioral deficits on the fragile-X spectrum; premature ovarian failure; and a newly described, neurodegenerative disorder of older adult carriers, fragile-X-associated tremor/ataxia syndrome (FXTAS). Awareness of these clinical presentations is important for proper diagnosis and therapeutic intervention, not only among families with known cases of fragile-X syndrome but also more broadly for adults with tremor, gait ataxia, and parkinsonism who are seen in movement-disorders clinics.

Entities: Disease Gene Mutation

Mesh：

Substances：

Year: 2004 PMID： 15052536 PMCID： PMC1181976 DOI： 10.1086/386296

Source DB: PubMed Journal: Am J Hum Genet ISSN： 0002-9297 Impact factor: 11.025

74 in total

1. Spinocerebellar ataxias in Spanish patients: genetic analysis of familial and sporadic cases. The Ataxia Study Group.

Authors: M A Pujana; J Corral; M Gratacòs; O Combarros; J Berciano; D Genís; I Banchs; X Estivill; V Volpini
Journal: Hum Genet Date: 1999-06 Impact factor: 4.132

2. Reduced FMRP and increased FMR1 transcription is proportionally associated with CGG repeat number in intermediate-length and premutation carriers.

Authors: A Kenneson; F Zhang; C H Hagedorn; S T Warren
Journal: Hum Mol Genet Date: 2001-07-01 Impact factor: 6.150

3. Spinocerebellar ataxias in the Netherlands: prevalence and age at onset variance analysis.

Authors: B P C van de Warrenburg; R J Sinke; C C Verschuuren-Bemelmans; H Scheffer; E R Brunt; P F Ippel; J A Maat-Kievit; D Dooijes; N C Notermans; D Lindhout; N V A M Knoers; H P H Kremer
Journal: Neurology Date: 2002-03-12 Impact factor: 9.910

4. Three proteins, MBNL, MBLL and MBXL, co-localize in vivo with nuclear foci of expanded-repeat transcripts in DM1 and DM2 cells.

Authors: Majid Fardaei; Mark T Rogers; Helena M Thorpe; Kenneth Larkin; Marion G Hamshere; Peter S Harper; J David Brook
Journal: Hum Mol Genet Date: 2002-04-01 Impact factor: 6.150

5. Premutation and intermediate-size FMR1 alleles in 10572 males from the general population: loss of an AGG interruption is a late event in the generation of fragile X syndrome alleles.

Authors: C Dombrowski; S Lévesque; M L Morel; P Rouillard; K Morgan; F Rousseau
Journal: Hum Mol Genet Date: 2002-02-15 Impact factor: 6.150

6. Hereditary neuronal intranuclear inclusion disease with autonomic failure and cerebellar degeneration.

Authors: Raffaella Zannolli; Sid Gilman; Simone Rossi; Nila Volpi; Andrea Bernini; Paolo Galluzzi; Daniela Galimberti; Lucia Pucci; Alfonso D'Ambrosio; Guido Morgese; Fabio Giannini
Journal: Arch Neurol Date: 2002-08

Review 7. Myotonic dystrophy type 2.

Authors: J Finsterer
Journal: Eur J Neurol Date: 2002-09 Impact factor: 6.089

8. Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriers.

Authors: C M Greco; R J Hagerman; F Tassone; A E Chudley; M R Del Bigio; S Jacquemont; M Leehey; P J Hagerman
Journal: Brain Date: 2002-08 Impact factor: 13.501

Review 9. Dominantly inherited, non-coding microsatellite expansion disorders.

Authors: Laura P W Ranum; John W Day
Journal: Curr Opin Genet Dev Date: 2002-06 Impact factor: 5.578

Review 10. Myotonic syndromes.

Authors: Ami Mankodi; Charles A Thornton
Journal: Curr Opin Neurol Date: 2002-10 Impact factor: 5.710

172 in total

1. Daily health symptoms of mothers of adolescents and adults with fragile x syndrome and mothers of adolescents and adults with autism spectrum disorder.

Authors: Leann E Smith; Marsha Mailick Seltzer; Jan S Greenberg
Journal: J Autism Dev Disord Date: 2012-09

The fragile-X premutation: a maturing perspective.

1. Spinocerebellar ataxias in Spanish patients: genetic analysis of familial and sporadic cases. The Ataxia Study Group.

2. Reduced FMRP and increased FMR1 transcription is proportionally associated with CGG repeat number in intermediate-length and premutation carriers.

3. Spinocerebellar ataxias in the Netherlands: prevalence and age at onset variance analysis.

4. Three proteins, MBNL, MBLL and MBXL, co-localize in vivo with nuclear foci of expanded-repeat transcripts in DM1 and DM2 cells.

5. Premutation and intermediate-size FMR1 alleles in 10572 males from the general population: loss of an AGG interruption is a late event in the generation of fragile X syndrome alleles.

6. Hereditary neuronal intranuclear inclusion disease with autonomic failure and cerebellar degeneration.

Review 7. Myotonic dystrophy type 2.

8. Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriers.

Review 9. Dominantly inherited, non-coding microsatellite expansion disorders.

Review 10. Myotonic syndromes.

1. Daily health symptoms of mothers of adolescents and adults with fragile x syndrome and mothers of adolescents and adults with autism spectrum disorder.

2. Differential sensitivity to life stress in FMR1 premutation carrier mothers of children with fragile X syndrome.

Review 3. Modifiers and mechanisms of multi-system polyglutamine neurodegenerative disorders: lessons from fly models.

4. Covariate adjusted correlation analysis with application to FMR1 premutation female carrier data.

5. Eye movements reveal impaired inhibitory control in adult male fragile X premutation carriers asymptomatic for FXTAS.

6. Altered neural activity of magnitude estimation processing in adults with the fragile X premutation.

7. Screening for intermediate CGG alleles of FMR1 gene in male Iranian patients with Parkinsonism.

8. Progressive spatial processing deficits in a mouse model of the fragile X premutation.

9. FMR1 repeat sizes in the gray zone and high end of the normal range are associated with premature ovarian failure.

10. Fragile X screening: attitudes of genetic health professionals.