Premutations in the FMR1 gene as a modifying factor in Parkin-associated Parkinson's disease?

Movement Disorders

Volumn 20, Issue 8, 2005, Pages 1060-1062

  Hedrich, Katja ^a   Pramstaller, Peter P ^b   Stübke, Katrin ^a   Hiller, Anja ^a   Kabakci, Kemal ^a   Purmann, Sabine ^c   Kasten, Meike ^a   Scaglione, Cesa ^d   Schwinger, Eberhard ^a   Volkmann, Jens ^c   Kostic, Vladimir ^e   Vieregge, Peter ^a,f   Martinelli, Paolo ^d   Abbruzzese, Giovanni ^g   Klein, Christine ^a   Zühlke, Christine ^a  

^a UNIVERSITY OF LÜBECK   (Germany)

^b CENTRAL HOSPITAL OF BOLZANO   (Italy)

^c UNIVERSITY OF KIEL   (Germany)

^d UNIVERSITY OF BOLOGNA   (Italy)

^e UNIVERSITY OF BELGRADE   (Serbia)

^f KLINIKUM LIPPE DETMOLD   (Germany)

^g UNIVERSITY OF GENOA   (Italy)

Author keywords

CGG repeat; FMR1; Parkin mutation; Parkinsonism

Indexed keywords

FRAGILE X MENTAL RETARDATION PROTEIN; LEVODOPA; PARKIN;

ADOLESCENT; ADULT; AGED; ARTICLE; CONTROLLED STUDY; DRUG RESPONSE; FEMALE; GENE FREQUENCY; GENE MUTATION; GENETIC ASSOCIATION; HETEROZYGOSITY; HETEROZYGOTE; HUMAN; HYPOTHESIS; MAJOR CLINICAL STUDY; MALE; PARKINSON DISEASE; PARKINSONISM; PATHOGENESIS; PRIORITY JOURNAL; TRINUCLEOTIDE REPEAT;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; ALLELES; DNA MUTATIONAL ANALYSIS; FEMALE; FRAGILE X MENTAL RETARDATION PROTEIN; FRAGILE X SYNDROME; HUMANS; LINKAGE (GENETICS); MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; NERVE TISSUE PROTEINS; PARKINSON DISEASE; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA, MESSENGER; RNA-BINDING PROTEINS; SEX FACTORS; TRINUCLEOTIDE REPEATS; UBIQUITIN-PROTEIN LIGASES;

EID: 26444571889     PISSN: 08853185     EISSN: None     Source Type: Journal    
DOI: 10.1002/mds.20512     Document Type: Article

References (12)

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. Hagerman PJ, Hagerman RJ. The fragile-X premutation: a maturing perspective [review]. Am J Hum Genet 2004;74:805-616.
3. Garcia Arocena D, Louis ED, Tassone F, et al. Screen for expanded FMR1 alleles in patients with essential tremor. Mov Disord 2004,19:930-933.
4. Tan EK, Zhao Y, Puong KY, et al. Fragile X premutation alleles in SCA, ET, and parkinsonism in an Asian cohort. Neurology 2004; 63:362-363.
5. Huang KF, Chen WY, Tsai YC, et al. Original article pilot screening for fragile X carrier in pregnant women of southern Taiwan. J Chin Med Assoc 2003;66:204-209.
6. Toft M, Aasly J, Bisceglio G, et al. Parkinsonism, FXTAS, and FMR1 premutations. Mov Disord 2005;20:230-233.
7. Gibb WR, Lees AJ. A comparison of clinical and pathological features of young- and old-onset Parkinson's disease. Neurology 1988;38:1402-1406.
8. Nakahori Y, Knight SJ, Holland J, et al. Molecular heterogeneity of the fragile X syndrome. Nucleic Acids Res 1991;19:4355-4359.
9. Rousseau F, Rouillard P, Morel ML, Khandjian EW, Morgan K. Prevalence of carriers of premutation-size alleles of the FMRI gene-and implications for the population genetics of the fragile X syndrome. Am J Hum Genet 1995;57:1006-1018.
10. 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;11:371-378.
11. Hilker R, Klein C, Ghaemi M, et al. Positron emission tomographic analysis of the nigrostriatal dopaminergic system in familial parkinsonism associated with mutations in the parkin gene. Ann Neurol 2001;49:367-376.
12. Walter U, Klein C, Hilker R, Benecke R, Pramstaller PP, Dressler D. Brain parenchyma sonography detects preclinical parkinsonism. Mov Disord 2004;19:1445-1449.