New evidence for, and challenges in, linking small CGG repeat expansion FMR1 alleles with Parkinson's disease

Clinical Genetics

Volumn 84, Issue 4, 2013, Pages 382-385

  Loesch, Dz ^a   Tassone, F ^b,c   Lo, J ^b   Slater, Hr ^d   Hills, Lv ^d   Bui, Mq ^e   Silburn, Pa ^f   Mellick, Gd ^g  

^a LA TROBE UNIVERSITY   (Australia)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c UNIVERSITY OF CALIFORNIA   (United States)

^d ROYAL CHILDREN'S HOSPITAL   (Australia)

^e UNIVERSITY OF MELBOURNE   (Australia)

^f UNIVERSITY OF QUEENSLAND   (Australia)

^g GRIFFITH UNIVERSITY   (Australia)

Author keywords

CGG repeat; FMR1 gene; Fragile X; Grey zone alleles; Parkinson's disease; Screening results

Indexed keywords

PESTICIDE;

ADULT; AGED; ARTICLE; AUSTRALIA; CASE CONTROL STUDY; CGG REPEAT; CONTROLLED STUDY; DISEASE DURATION; DNA STRUCTURE; FMR1 GENE; GENE; GENE FREQUENCY; HUMAN; MAJOR CLINICAL STUDY; MALE; NEWBORN; PARKINSON DISEASE; PARKINSONISM; PRIORITY JOURNAL; RISK FACTOR; SMOKING;

CGG REPEAT; FMR1 GENE; FRAGILE X; GREY ZONE ALLELES; PARKINSON'S DISEASE; SCREENING RESULTS;

AGED; AGED, 80 AND OVER; ALLELES; CASE-CONTROL STUDIES; FRAGILE X MENTAL RETARDATION PROTEIN; GENOTYPE; HUMANS; MALE; MIDDLE AGED; ODDS RATIO; PARKINSON DISEASE; TRINUCLEOTIDE REPEAT EXPANSION;

EID: 84883768356     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12070     Document Type: Article

References (24)

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. Maddalena A, Richards CS, McGinniss MJ et al. Technical standards and guidelines for fragile X: the first of series of disease specific supplements to the Standard Guidelines for Clinical Genetics Laboratories of the ACMG. Genet Med 2001: 3: 200-205.
3. Jacquemont S, Hagerman RJ, Leehey MD et al. Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population. JAMA 2004: 291: 460-469.
4. 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: 227-233.
5. Loesch DZ, Churchyard A, Brotchie P, Marot M, Tassone F. Evidence for, and a spectrum of, neurological involvement in carriers of the fragile X pre-mutation: FXTAS and beyond. Clin Genet 2005: 67: 412-417.
6. 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: 1760-1771.
7. Tassone F, Hagerman RJ, Taylor AK, Gane LW, Godfrey TE, Hagerman PJ. Elevated levels of FMR1 mRNA in carrier males. Am J Hum Genet 2000: 66: 6-15.
8. Loesch DZ, Bui M, Huggins RM, Mitchell RJ, Hagerman RJ, Tassone F. Transcript levels of 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: 200-204.
9. Hall D, Tassone F, Klepitskaya O, Leehey M. Fragile X-associated tremor ataxia syndrome in FMR1 gray zone allele carriers. Mov Disord 2012: 27: 297-301.
10. Liu Y, Winarni TI, Zhang L, Tassone F, Hagerman R. Fragile X-associated tremor/ataxia syndrome (FXTAS) in grey zone carriers. Clin Genet 2012. DOI: 10.1111/cge.12026. Accessed on August 29.
11. Hagerman RJ. The physical and behavioural phenotype. In: Hagerman RJ, Hagerman PJ, eds. Fragile X syndrome. Diagnosis, treatment and research, 3 edn. Baltimore, MD: John Hopkins University Press, 2002: 3-109.
12. Loesch DZ, Khaniani MS, Slater HR et al. Small CGG repeat expansion alleles of FMR1 gene are associated with parkinsonism. Clin Genet 2009: 76: 471-476.
13. Sutherland GT, Halliday GM, Silburn PA et al. Do polymorphisms in the familial Parkinsonism genes contribute to risk for sporadic Parkinson's disease? Mov Disord 2009: 24: 833-838.
14. Hughes AJ, Daniel SE, Kilford L, Lees AJ. Accuracy of clinical diagnosis of idiopathic Parkinson's disease. A clinico-pathological study of 100 cases. JNNP 1992: 55: 181-184.
15. Tassone F, Pan R, Amiri K, Taylor AK, Hagerman PJ. A rapid polymerase chain reaction-based screening method for identification of all expanded alleles of the fragile X (FMR1) gene in newborn and high-risk populations. J Mol Diagn 2008: 10: 43-49.
16. Filipovic-Sadic S, Sah S, Chen L et al. A novel FMR1 PCR method for the routine detection of low-abundance expanded alleles and full mutations in Fragile X syndrome. Clin Chem 2010: 56: 399-408.
17. Khaniani MS, Kalitsis P, Burgess T, Slater HR. An improved diagnostic PCR assay for identification of cryptic heterozygosity for CGG triplet repeat alleles in the fragile X gene (FMR1). Mol Cytogenet 2008: 1: 5.
18. Kurz MW, Schlitter AM, Klenk Y et al. FMR1 alleles in Parkinson's disease. J Geriatr Psychiatry Neurol 2007: 20: 89-92.
19. Hall DA, Berry-Kravis E, Zhang X et al. FMR1 gray-zone alleles: association with Parkinson's disease in women? Mov Disord 2011: 26: 1900-1906.
20. Zhang X, Zhung X, Gan S et al. Screening for FMR1 expanded alleles in patients with parkinsonism in mainland China. Neurosci Lett 2012: 514: 16-21.
21. Toft M, Aasly J, Bisceglio G et al. Parkinsonism, FXTAS, and FMR1 premutations. Mov Disord 2005: 20: 230-233.
22. Kraff J, Tang HT, Cilia R et al. Screen for excess FMR1 premutation alleles among males with parkinsonism. Arch Neurol 2007: 64: 1002-1006.
23. Reis AH, Ferreira AC, Gomes KB et al. Frequency of FMR1 premutation in individuals with ataxia and/or tremor and/or parkinsonism. Genet Mol Res 2008: 7: 74-84.
24. 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. Genet Med 2011: 13: 392-399.