A cerebellar tremor/ataxia syndrome among fragile X premutation carriers

Cytogenetic and Genome Research

Volumn 100, Issue 1-4, 2003, Pages 206-212

  Hagerman, P J ^a   Greco, C M ^a   Hagerman, R J ^b  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

FRAGILE X MENTAL RETARDATION PROTEIN; UBIQUITIN;

ALLELE; ASTROCYTE; BRAIN SIZE; CELL NUCLEUS INCLUSION BODY; CEREBELLAR ATAXIA; CLINICAL FEATURE; DISEASE ASSOCIATION; DISEASE CARRIER; FRAGILE X SYNDROME; GENE MUTATION; HETEROZYGOTE; HISTOPATHOLOGY; HUMAN; MOLECULAR GENETICS; NERVE CELL; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE REPEAT; PATHOGENESIS; PHENOTYPE; PREVALENCE; PRIORITY JOURNAL; PROTEIN FUNCTION; REVIEW;

ATAXIA;

EID: 0345538689     PISSN: 14248581     EISSN: None     Source Type: Journal    
DOI: 10.1159/000072856     Document Type: Review

References (33)

1. Bardoni B, Mandel JL: Advances in understanding of fragile X pathogenesis and FMRP function, and in identification of X linked mental retardation genes. Curr Opin Genet Dev 12:284-293 (2002).
2. Berry-Kravis E, Lewin F, Wuu J, Leehey M, Hagerman RJ, Hagerman P, Goetz C: Tremor and ataxia in adult fragile X premutation carriers: blinded videotape evaluation. Annls Neurol 53:616-623 (2003).
3. Brunberg JA, Jacquemont S, Hagerman RJ, Berry-Kravis EM, Grigsby J, Leehey MA, Tassone F, Brown WT, Greco CM, Hagerman PJ: Fragile X premutation carriers: characteristic MR imaging findings of adult male patients with progressive cerebellar and cognitive dysfunction. Am J Neuroradiol 23:1757-1766 (2002).
4. Cummings CJ, Zoghbi HY: Trinucleotide repeats: mechanisms and pathophysiology. A Rev Genomics Hum Genet 1:281-328 (2000).
5. Devys D, Lutz Y, Rouyer N, Bellocq JP, Mandel JL: The FMR-1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a fragile X premutation. Nature Genet 4:335-340 (1993).
6. Dombrowski C, Levesque S, Morel ML, Rouillard P, Morgan K, Rousseau F: Premutation and intermediate-size FMR1 alleles in 10,572 males from the general population: loss of an AGG interruption is a late event in the generation of fragile X syndrome alleles. Hum molec Genet 11:371-378. (2002).
7. Gilman S, Low PA, Quinn N, Albanese A, Ben-Shlomo Y, Fowler CJ, Kaufmann H, Klockgether T, Lang AE, Lantos PL, Litvan I, Mathias CJ, Oliver E, Robertson D, Schatz I, Wenning GK: Consensus statement on the diagnosis of multiple system atrophy. J neurol Sci 163:94-98 (1999).
8. Greco CM, Hagerman RJ, Tassone F, Chudley AE, Del Bigio MR, Jacquemont S, Leehey M, Hagerman PJ: Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriers. Brain 125:1760-1771 (2002).
9. Grigsby J, Leehey M, Hagerman RJ, Epstein J, Wilson R, Jacquemont S, Greco C, Brunberg J, Tassone F, Hagerman PJ: Dementia and a tremor-ataxia disorder among older male carriers of the fragile X premutation. Proceedings of the 2002 Annual Meeting of the American Geriatrics Society, Washington, DC (2002).
10. Hagerman RJ: Physical and behavioral phenotype, in Hagerman RJ, Hagerman PJ (eds): Fragile X Syndrome: Diagnosis, Treatment and Research, 3rd Ed, pp 3-109 (The Johns Hopkins University Press, Baltimore 2002).
11. Hagerman RJ, Leehey M, Heinrichs W, Tassone F, Wilson R, Hills J, Grigsby J, Gage B, Hagerman PJ: Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X. Neurology 57:127-130 (2001).
12. Hagerman RJ, Staley LW, O'Connor R, Lugenbeel K, Nelson D, McLean SD, Taylor A: Learning-disabled males with a fragile X CGG expansion in the upper premutation size range. Pediatrics 97:122-126 (1996).
13. Hinds HL, Ashley CT, Sutcliffe JS, Nelson DL, Warren ST, Housman DE, Schalling M: Tissue specific expression of FMR-1 provides evidence for a functional role in fragile X syndrome. Nature Genet 3:36-43 (1993).
14. Jacquemont S, Hagerman RJ, Leehey M, Greco C, Brunberg J, Tassone F, Gane LW, Jardini T, Harris SW, Zhang L, Grigsby J, Des Portes V, Berry-Kravis E, Brown WT, Hagerman PJ: Characterization of a progressive neurological condition in older adult male carriers of the fragile X premutation. Am J hum Genet 71:185 (2002).
15. Kaufmann WE, Abrams MT, Chen W, Reiss AL: Genotype, molecular phenotype, and cognitive phenotype: correlations in fragile X syndrome. Am J med Genet 83:286-295 (1999).
16. 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 molec Genet 10:1449-1454 (2001).
17. Kimber TE, Blumbergs PC, Rice JP, Hallpike JF, Edis R, Thompson PD, Suthers G: Familial neuronal intranuclear inclusion disease with ubiquitin positive inclusions. J neurol Sci 160:33-40 (1998).
18. Leehey MA, Hagerman RJ, Landau WM, Grigsby J, Tassone F, Hagerman PJ: Tremor/ataxia syndrome in fragile X carrier males. Mov Disord 17:744-745 (2002).
19. Leehey MA, Munholz RP, Lang AE, Brunberg JA, Grigsby J, Greco CM, Jacquemont S, Tassone F, Lozano AM, Hagerman PJ, Hagerman RJ: The fragile X premutation presenting as essential tremor. Archs Neurol 60:117-121 (2003).
20. Mankodi A, Logigian E, Callahan L, McClain C, White R, Henderson D, Krym M, Thornton CA: Myotonic dystrophy in transgenic mice expressing an expanded CUG repeat. Science 289:1769-1772 (2000).
21. Michaud J, Gilbert JJ: Multiple system atrophy with neuronal intranuclear hyaline inclusions: report of a new case with light and electron microscopic studies. Acta Neuropathol 54:113-119 (1981).
22. Reiss AL, Abrams MT, Greenlaw R, Freund L, Denckla MB: Neurodevelopmental effects of the FMR-1 full mutation in humans. Nature Med 1:159-167 (1995).
23. Reiss AL, Lee J, Freund L: Neuroanatomy of fragile X syndrome: the temporal lobe. Neurology 44:1317-1324 (1994).
24. 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 57:1006-1018 (1995).
25. Smits A, van der Bruggen W, Sistermans E, Kiemeney B, Renier W, Kremer B: Striking neurological symptoms in normal transmitting males of the fragile X syndrome. Proceedings of the 8th International Fragile X Conference, Chicago, IL (2002).
26. Tassone F, Hagerman P: Expression of the FMR1 gene. Cytogenet Genome Res (2003, in press).
27. Tassone F, Hagerman RJ, Chamberlain WD, Hagerman PJ: Transcription of the FMR1 gene in individuals with fragile X syndrome. Am J hum Genet 97:195-203 (2000a).
28. Tassone F, Hagerman RJ, Iklé DN, Dyer PN, Lampe M, Willemsen R, Oostra BA, Taylor AK: FMRP expression as a potential prognostic indicator in fragile X syndrome. Am J hum Genet 84:250-261 (1999).
29. Tassone F, Hagerman RJ, Taylor AK, Gane LW, Godfrey TE, Hagerman PJ: Elevated levels of FMR1 mRNA in carrier males: a new mechanism of involvement in fragile X syndrome. Am J hum Genet 66:6-15 (2000b).
30. Tassone F, Hagerman RJ, Taylor AK, Hagerman PJ: A majority of fragile X males with methylated, full mutation alleles have significant levels of FMR1 messenger RNA. J med Genet 38:453-456 (2001).
31. Tassone F, Hagerman RJ, Taylor AK, Mills JB, Harris SW, Gane LW, Hagerman PJ: Clinical involvement and protein expression in individuals with the FMR1 premutation. Am J hum Genet 91:144-152 (2000c).
32. Toledano-Alhadef H, Basel-Vanagaite L, Magal N, Davidov B, Ehrlich S, Drasinover V, Taub E, Halpern GJ, Ginott N, Shohat M: Fragile-X carrier screening and the prevalence of premutation and full-mutation carriers in Israel. Am J hum Genet 69:351-360 (2001).
33. Zannolli R, Gilman S, Rossi S, Volpi N, Bernini A, Galluzzi P, Galimberti D, Pucci L, D'Ambrosio A, Morgese G, Giannini F: Hereditary neuronal intranuclear inclusion disease with autonomic failure and cerebellar degeneration. Archs Neurol 59:1319-1326 (2002).