Fragile X-associated tremor/ataxia syndrome (FXTAS) in grey zone carriers

Clinical Genetics

Volumn 84, Issue 1, 2013, Pages 74-77

  Liu, Y ^a   Winarni, Ti ^b   Zhang, L ^c   Tassone, F ^c,d   Hagerman, Rj ^d  

^a Dalian Municipal Friendship Hospital   (China)

^b DIPONEGORO UNIVERSITY   (Indonesia)

^c UNIVERSITY OF CALIFORNIA   (United States)

^d UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

Ataxia; FMR1 mRNA; FXTAS; Grey zone; Premutation; Tremor

Indexed keywords

FRAGILE X MENTAL RETARDATION PROTEIN; MESSENGER RNA;

ADULT; AGED; ALLELE; ARTICLE; ATAXIA; BRAIN ATROPHY; CASE REPORT; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE DURATION; ERECTILE DYSFUNCTION; EYE SURGERY; FAMILY HISTORY; FEMALE; FRAGILE X ASSOCIATED TREMOR ATAXIA SYNDROME; FRAGILE X SYNDROME; GAIT DISORDER; GENE EXPRESSION; GENE MUTATION; GENETIC ANALYSIS; HAND TREMOR; HEREDITY; HUMAN; HYPERTENSION; MALE; MIGRAINE; NEUROIMAGING; NEUROLOGIC EXAMINATION; NON INSULIN DEPENDENT DIABETES MELLITUS; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; SLEEP DISORDER;

AGED, 80 AND OVER; ALLELES; ATAXIA; FEMALE; FRAGILE X MENTAL RETARDATION PROTEIN; FRAGILE X SYNDROME; GENE FREQUENCY; HUMANS; MALE; MIDDLE AGED; MUTATION; PEDIGREE; RNA, MESSENGER; TREMOR; TRINUCLEOTIDE REPEATS;

EID: 84879794084     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12026     Document Type: Article

References (17)

1. Hagerman RJ, Leehey M, Heinrichs W et al. Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X. Neurology 2001: 57: 127-130.
2. Jacquemont S, Hagerman RJ, Leehey M et al. Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates. Am J Hum Genet 2003: 72 (4): 869-878.
3. Raske C, Hagerman PJ. Molecular pathogenesis of fragile X-associated tremor/ataxia syndrome. J Investig Med 2009: 57 (8): 825-829.
4. Loesch DZ, Khaniani MS, Slater HR et al. Small CGG repeat expansion alleles of FMR1 gene are associated with parkinsonism. Clin Genet 2009: 76 (5): 471-476.
5. Kamm C, Healy DG, Quinn NP et al. The fragile X tremor ataxia syndrome in the differential diagnosis of multiple system atrophy: data from the EMSA study group. Brain 2005: 128 (Pt 8): 1855-1860.
6. Kenneson A, Zhang F, Hagedorn CH, Warren ST. Reduced FMRP and increased FMR1 transcription is proportionally associated with CGG repeat number in intermediate-length and premutation carriers. Hum Mol Genet 2001: 10 (14): 1449-1454.
7. Loesch DZ, Bui QM, Huggins RM, Mitchell RJ, Hagerman RJ, Tassone F. Transcript levels of the intermediate size or grey zone fragile X mental retardation 1 alleles are raised, and correlate with the number of CGG repeats. J Med Genet 2007: 44 (3): 200-204.
8. Hall D, Tassone F, Klepitskaya O, Leehey M. Fragile X-associated tremor ataxia syndrome in FMR1 gray zone allele carriers. Mov Disord 2012: 27 (2): 297-301.
9. Chonchaiya W, Utari A, Pereira GM, Tassone F, Hessl D, Hagerman RJ. Broad clinical involvement in a family affected by the fragile X premutation. J Dev Behav Pediatr 2009: 30: 544-551.
10. Hagerman RJ, Leavitt BR, Farzin F et al. Fragile-X-associated tremor/ataxia syndrome (FXTAS) in females with the FMR1 premutation. Am J Hum Genet 2004: 74 (5): 1051-1056.
11. Maddalena A, Richards CS, McGinniss MJ et al. Technical standards and guidelines for fragile X: the first of a series of disease-specific supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics. Quality Assurance Subcommittee of the Laboratory Practice Committee. Genet Med 2001: 3 (3): 200-205.
12. Tassone F, Beilina A, Carosi C et al. Elevated FMR1 mRNA in premutation carriers is due to increased transcription. RNA 2007: 13 (4): 555-562.
13. Loesch DZ, Godler DE, Evans A et al. Evidence for the toxicity of bidirectional transcripts and mitochondrial dysfunction in blood associated with small CGG expansions in the FMR1 gene in patients with parkinsonism. Genet Med 2011: 13 (5): 392-399.
14. Leehey MA, Berry-Kravis E, Min SJ et al. Progression of tremor and ataxia in male carriers of the FMR1 premutation. Mov Disord 2007: 22 (2): 203-206.
15. Chen Y, Tassone F, Berman RF et al. Murine hippocampal neurons expressing Fmr1 gene premutations show earlydevelopmental deficits and late degeneration. Hum Mol Genet 2010: 19 (1): 196-208.
16. Greco C, Tassone F, Jacquemont S, et al. Intranuclear neuronal inclusions in two female carriers of the fragile X premutation. Am J Hum Genetics, 53rd Annual Meeting, Los Angeles, CA, USA 2003; 73(suppl 5) A2452:586.
17. Adams JS, Adams PE, Nguyen D et al. Volumetric brain changes in females with fragile X-associated tremor/ataxia syndrome (FXTAS). Neurology 2007: 69 (9): 851-859.