Screen for excess FMR1 premutation alleles among males with Parkinsonism

Archives of Neurology

Volumn 64, Issue 7, 2007, Pages 1002-1006

  Kraff, Jeremy ^a   Tang, Hiu Tung ^b   Cilia, Roberto ^c   Canesi, Margherita ^c   Pezzoli, Gianni ^c   Goldwurm, Stefano ^c   Hagerman, Paul J ^a,b   Tassone, Flora ^a,b  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c PARKINSON INSTITUTE   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

FRAGILE X MENTAL RETARDATION PROTEIN;

ADULT; AGED; ALLELE; ARTICLE; CAUCASIAN; CLINICAL ARTICLE; CLINICAL ASSESSMENT; CLINICAL FEATURE; CONTROLLED STUDY; DNA SCREENING; FEMALE; HUMAN; ITALY; MALE; PARKINSONISM; POLYMERASE CHAIN REACTION; POPULATION; PRIORITY JOURNAL; SCHOOL HEALTH SERVICE; STATISTICAL SIGNIFICANCE;

AGED; ALLELES; COHORT STUDIES; DNA MUTATIONAL ANALYSIS; DNA REPEAT EXPANSION; FRAGILE X MENTAL RETARDATION PROTEIN; FRAGILE X SYNDROME; GENE FREQUENCY; GENETIC MARKERS; GENETIC PREDISPOSITION TO DISEASE; GENETIC SCREENING; GENOTYPE; HETEROZYGOTE; HUMANS; MALE; MIDDLE AGED; MUTATION; PARKINSON DISEASE; PHENOTYPE; SEX FACTORS;

EID: 34447281250     PISSN: 00039942     EISSN: 15383687     Source Type: Journal    
DOI: 10.1001/archneur.64.7.1002     Document Type: Article

References (31)

1. Jacquemont S, Hagerman RJ, Leehey MA, et al. Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population. JAMA. 2004;291(4):460-469.
2. Jacquemont S, Farzin F, Hall D, et al. Aging in individuals with the FMR1 mutation. Am J Ment Retard. 2004;109(2):154-164.
3. Hagerman PJ, Hagerman RJ. Fragile X-associated tremor/ataxia syndrome (FXTAS). Ment Retard Dev Disabil Res Rev. 2004;10(1):25-30.
4. Bacalman S, Farzin F, Bourgeois JA, et al. Psychiatric phenotype of the fragile X-associated tremor/ataxia syndrome (FXTAS) in males: newly described fronto-subcortical dementia. J Clin Psychiatry. 2006;67(1):87-94.
5. Grigsby J, Brega AG, Jacquemont S, et al. Impairment in the cognitive functioning of men with fragile X-associated tremor/ataxia syndrome (FXTAS). J Neurol Sci. 2006;248(1-2):227-233.
6. Brunberg JA, Jacquemont S, Hagerman RJ, et al. Fragile X premutation carriers: characteristic MR imaging findings of adult male patients with progressive cerebellar and cognitive dysfunction. AJNR Am J Neuroradiol. 2002;23(10):1757-1766.
7. Cohen S, Masyn K, Adams J, et al. Molecular and imaging correlates of the fragile X-associated tremor/ataxia syndrome. Neurology. 2006;67(8):1426-1431.
8. Greco CM, Hagerman RJ, Tassone F, et al. Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriers. Brain. 2002;125(pt 8):1760-1771.
9. Greco CM, Berman RF, Martin RM, et al. Neuropathology of fragile X-associated tremor/ataxia syndrome (FXTAS). Brain. 2006;129(pt 1):243-255.
10. Hagerman PJ, Hagerman RJ. The fragile-X premutation: a maturing perspective. Am J Hum Genet. 2004;74(5):805-816.
11. Hall DA, Berry-Kravis E, Jacquemont S, et al. Initial diagnoses given to persons with the fragile X associated tremor/ataxia syndrome (FXTAS). Neurology. 2005;65(2):299-301.
12. Jacquemont S, Leehey MA, Hagerman RJ, Beckett LA, Hagerman PJ. Size bias of fragile X premutation alleles in late-onset movement disorders. J Med Genet. 2006;43(10):804-809.
13. Hughes AJ, Daniel SE, Kilford L, Lees AJ. Accuracy of clinical diagnosis of idiopathic Parkinson's disease: a clinico-pathological study of 100 cases. J Neurol Neurosurg Psychiatry. 1992;55(3):181-184.
14. Hughes AJ, Daniel SE, Lees AJ. Improved accuracy of clinical diagnosis of Lewy body Parkinson's disease. Neurology. 2001;57(8):1497-1499.
15. Litvan I, Bhatia KP, Burn DJ, et al. Movement Disorders Society Scientific Issues Committee report: SIC Task Force appraisal of clinical diagnostic criteria for Parkinsonian disorders. Mov Disord. 2003;18(5):467-486.
16. Elble RJ. Diagnostic criteria for essential tremor and differential diagnosis. Neurology. 2000;54(11)(suppl 4):S2-S6.
17. Goldwurm S, Zini M, Di Fonzo A, et al. LRRK2 G2019S mutation and Parkinson's disease: a clinical, neuropsychological and neuropsychiatric study in a large Italian sample. Parkinsonism Relat Disord. 2006;12(7):410-419.
18. Saluto A, Brussino A, Tassone F, et al. An enhanced polymerase chain reaction assay to detect pre- and full mutation alleles of the fragile X mental retardation 1 gene. J Mol Diagn. 2005;7(5):605-612.
19. Tassone F, Hagerman RJ, Garcia-Arocena D, Khandjian EW, Greco CM, Hagerman PJ. Intranuclear inclusions in neural cells with premutation alleles in fragile X associated tremor/ataxia syndrome. J Med Genet. 2004;41(4):e43.
20. Dawson AJ, Chodirker BN, Chudley AE. Frequency of FMR1 premutations in a consecutive newborn population by PCR screening of Guthrie blood spots. Biochem Mol Med. 1995;56(1):63-69.
21. Dombrowski C, Levesque S, Morel ML, Rouillard P, Morgan K, Rousseau F. 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. Hum Mol Genet. 2002;11(4):371-378.
22. Annesi G, Nicoletti G, Tarantino P, et al. FRAXE intermediate alleles are associated with Parkinson's disease. Neurosci Lett. 2004;368(1):21-24.
23. Toft M, Aasly J, Bisceglio G, et al. Parkinsonism, FXTAS, and FMR1 premutations. Mov Disord. 2005;20(2):230-233.
24. Deng H, Le W, Jankovic J. Premutation alleles associated with Parkinson disease and essential tremor. JAMA. 2004;292(14):1685-1686.
25. Tan EK, Zhao Y, Puong KY, et al. Expanded FMR1 alleles are rare in idiopathic Parkinson's disease. Neurogenetics. 2005;6(1):51-52.
26. Hedrich K, Pramstaller PP, Stubke K, et al. Premutations in the FMR1 gene as a modifying factor in Parkin-associated Parkinson's disease? Mov Disord. 2005;20(8):1060-1062.
27. 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.
28. Tassone F, Adams J, Berry-Kravis EM, et al. CGG correlates with age of onset of motor signs of the fragile X-associated tremor/ataxia syndrome (FXTAS) [published online ahead of print April 10, 2007]. Am J Med Genet B Neuropsychiatr Genet. 2007;144(4):566-569.
29. Allingham-Hawkins DJ, Babul-Hirji R, Chitayat D, et al. Fragile X premutation is a significant risk factor for premature ovarian failure: the International Collaborative POF in Fragile X study, preliminary data. Am J Med Genet. 1999;83(4):322-325.
30. Marozzi A, Vegetti W, Manfredini E, et al. Association between idiopathic premature ovarian failure and fragile X premutation. Hum Reprod. 2000;15(1):197-202.
31. Sullivan AK, Marcus M, Epstein MP, et al. Association of FMR1 repeat size with ovarian dysfunction. Hum Reprod. 2005;20(2):402-412.