SEARCH

SEARCH BY CITATION

REFERENCES

  • Arocena DG, Iwahashi CK, Won N, Beilina A, Ludwig AL, Tassone F, Schwartz PH, Hagerman PJ. 2005. Induction of inclusion formation and disruption of lamin A/C structure by premutation CGG-repeat RNA in human cultured neural cells. Hum Mol Genet 14: 36613671.
  • Berry-Kravis E, Lewin F, Wuu J, Leehey M, Hagerman R, Hagerman P, Goetz CG. 2003. Tremor and limb ataxia in fragile X premutation carriers: Blinded videotape evaluation. Ann Neurol 53: 616623.
  • Berry-Kravis E, Potanos K, Weinberg D, Zhou L, Goetz CG. 2005. Penetrance of fragile X-associated tremor/ataxia syndrome (FXTAS) in two sisters related to X-inactivation pattern. Ann Neurol 57: 144147.
  • Brown WT, Nolin S, Houck G, Jr, Ding X, Glicksman A, Li SY, Stark-Houck S, Brophy P, Duncan C, Dobkin C, Jenkins E. 1996. Prenatal diagnosis and carrier screening for fragile X by PCR. Am J Med Genet 64: 191195.
  • Brunberg JA, Jacquemont S, Hagerman RJ, Berry-Kravis EM, Grigsby J, Leehey MA, Tassone F, Brown WT, Greco CM, Hagerman PJ. 2002. Fragile X premutation carriers: Characteristic MR imaging findings in adult males with progressive cerebellar and cognitive dysfunction. Am J Neuroradiology 23: 17571766.
  • Devys D, Lutz Y, Rouyer N, Bellocq JP, Mandel JL. 1993. The FMR-1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a fragile X premutation. Nature Genetics 4: 335340.
  • Dorn MB, Mazzocco MMM, Hagerman RJ. 1994. Behavioral and psychiatric disorders in adult male carriers of fragile X. J Am Acad Child Adolesc Psychiatry 33: 256264.
  • Fahn S, Elton RL, and members of the UPDRS Development Committee. 1987. Unified Parkinson's Disease Rating Scale. In: FahnS, MarsdenCD, CalneDB, GodsteinM, editors. Recent developments in Parkinson's Disease. Florham Park, NJ: Macmillan Health Care Information. p 153164.
  • Fahn S, Tolosa E, Marin C. 1998. Clinical rating scale for tremor. In: JankovicJ, TolosaE, editors. Parkinson's disease and movement disorders. Baltimore-Munich: Urban & Schwarzenberg. p 225234.
  • Fu Y-H, Kohl DPA, Pizzuti A, Pieretti M, Sutcliffe J, Richards S, Verkerk AJMH, Holden JJA, Fenwick RG, Jr, Warren ST, Oostra BA, Nelson DL, Caskey CT. 1991. Variation of the CGG repeat at the fragile X site results in genetic instability and resolution of the Sherman paradox. Cell 67: 10471058.
  • Greco C, Hagerman RJ, Tassone F, Chudley AE, Del Bigio MR, Jacquemont S, Leehey M, Hagerman PJ. 2002. Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriers. Brain 125: 17601771.
  • Greco CM, Berman RF, Martin RM, Tassone F, Schwartz PH, Chang A, Trapp BD, Iwahashi C, Brunberg J, Grigsby J, Hessl D, Becker EJ, Papazian J, Leehey MA, Hagerman RJ, Hagerman PJ. 2006. Neuropathology of fragile X-associated tremor/ataxia syndrome (FXTAS). Brain 129: 243255.
  • Hagerman RJ. 1996. Physical and behavioral phenotype. In: HagermanRJ, CronisterA, editors. Fragile X syndrome: Diagnosis, treatment and research. Baltimore: Johns Hopkins University Press. p 387.
  • Hagerman PJ, Hagerman RJ. 2004. The fragile X premutation: A maturing perspective. Am J Hum Genet 74: 805816.
  • Hagerman RJ, Leehey M, Heinrichs W, Tassone F, Wilson R, Hills J, Grigsby J, Gage B, Hagerman PJ. 2001. Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X. Neurology 57: 127130.
  • Hagerman RJ, Leavitt BR, Farzin F, Jacquemont S, Greco CM, Brunberg JA, Tassone F, Hessl D, Harris SW, Zhang L, Jardini T, Gane LW, Ferranti J, Ruiz L, Leehey MA, Grigsby J, Hagerman PJ. 2004. Fragile X-associated tremor/ataxia syndrome (FXTAS) in females with the FMR1 mutation. Am J Hum Genet 74: 10511056.
  • Hessl D, Tassone F, Loesch DZ, Berry-Kravis E, Leehey MA, Gane LW, Barbato I, Rice C, Gould E, Hall DA, Grigsby J, Wegelin J, Harris S, Lewin F, Weinberg D, Hagerman PJ, Hagerman RJ. 2005. Abnormal elevation of FMR1 mRNA is associated with psychopathology in adults with the fragile X premutation. Am J Med Genet Part B Neuropsychiatr Genet 139B: 115121.
  • Huntington Study Group. 1996. Unified Huntington's disease rating scale: Reliability and consistency. Mov Disord 11: 136142.
  • Iwahashi CK, Yasui DH, An HJ, Greco CM, Tassone F, Nannen K, Babineau B, Lebrilla CB, Hagerman RJ, Hagerman PJ. 2006. Protein composition of the intranuclear inclusions of FXTAS. Brain 129: 256271.
  • Jacquemont S, Hagerman RJ, Leehey M, Grigsby J, Zhang L, Brunberg JA, Greco C, Des Portes V, Jardini T, Levine R, Berry-Kravis E, Brown WT, Schaeffer S, Kissel J, Tassone F, Hagerman PJ. 2003. Fragile X premutation tremor/ataxia syndrome: Molecular, clinical, and neuroimaging correlates. Am J Hum Genet 72: 869878.
  • Jacquemont S, Hagerman RJ, Leehey MA, Hall DA, Levine RA, Brunberg JA, Zhang L, Jardini T, Gane LW, Harris SW, Herman K, Grigsby J, Greco C, Berry-Kravis E, Tassone F, Hagerman PJ. 2004a. Penetrance of the fragile X-associated tremor/ataxia syndrome (FXTAS) in a premutation carrier population: Initial results from the California-based study. JAMA 291: 460469.
  • Jacquemont S, Orrico A, Galli L, Sahota PK, Brunberg JA, Anichini C, Leehey M, Schaeffer S, Hagerman RJ, Hagerman PJ, Tassone F. 2005. Spastic paraparesis, cerebellar ataxia, and intention tremor: A severe variant of FXTAS? J Med Genet 42: e14.
  • Jaquemont S, Farzin F, Hall D, Leehey M, Tassone F, Gane L, Zhang L, Grigsby J, Jardini T, Lewin F, Berry-Kravis E, Hagerman PJ, Hagerman RJ. 2004b. Aging in individuals with the FMR1 mutation. Am J Mental Retardation 109: 154164.
  • Jin P, Zarnescu D, Zhang F, Pearson CE, Lucchesi JC, Moses K, Warren ST. 2003. RNA-mediated neurodegeneration caused by the fragile X premutation rCGG repeats in Drosophila. Neuron 39: 739747.
  • Krajewski KM, Lewis RA, Fuerst DR, Turansky C, Hinderer SR, Garbern J, Kamholz J, Shy ME. 2000. Neurological dysfunction and axonal degeneration in Charcot-Marie-Tooth disease type 1A. Brain 123: 15161527.
  • Leehey MA, Hall DA, Rice CD, Jacquemont S, Zhang L, Grigsby J, Hagerman RJ, Hagerman PJ, Berry-Kravis E, Leehey MA. 2004. The clinical course of fragile X-associated tremor/ataxia syndrome (FXTAS). Mov Disord 19: 112.
  • Levinson G, Maddalena A, Palmer FT, Harton GL, Bick DP, Howard-Peebles PN, Black SH, Schulman JD. 1994. Improved sizing of fragile X CCG repeats by nested polymerase chain reaction. Am J Med Genet 51: 527534.
  • Maddalena A, Richards CS, McGinniss MJ, Brothman A, Desnick RJ, Grier RE, Hirsch B, Jacky P, McDowell GA, Popovich B, Watson M, Wolff DJ. 2001. 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 3: 200205.
  • Pieretti M, Zhang F, Fu Y-H, Warren ST, Oostra BA, Caskey CT, Nelson DL. 1991. Absence of expression of the FMR-1 gene in fragile X syndrome. Cell 66: 817822.
  • R Development Core Team. 2005. R: A language and environment for statistical computing. Version 2.2. Vienna, Austria.
  • Rousseau F, Heitz D, Biancalana V, Blumenfeld S, Kretz C, Boue J, Tommerup N, Van Der Hagen C, DeLozier-Blanchet C, Croquette M-F, Gilgenkrantz S, Jalbert P, Voelckel M-A, Oberle I, Mandel J-L. 1991. Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation. N Engl J Med 325: 16731681.
  • SAS Institute Inc. 2000–2004. SAS. Version 9.1. Cary, NC.
  • Tassone F, Iwahashi C, Hagerman PJ. 2004. FMR1 RNA within the intranuclear inclusions of fragile X-associated tremor/ataxia syndrome (FXTAS). RNA Biology 1: 103105.
  • Trouillas P, Takayanagi T, Hallet M, Currier RD, Subramony SH, Wessel F, Bryer A, Diener HC, Massaquoi S, Gomez CM, Coutinho P, Ben-Hamida M, Campanella G, Filla A, Schut L, Timann D, Honnorat J, Nighoghossian N, Manyam B. 1997. International Cooperative Ataxia Rating Scale for pharmacological assessment of the cerebellar syndrome. J Neuro Sci 145: 205211.
  • Van Dam D, Errijgers V, Kooy RF, Willemsen R, Mientjes E, Oostra BA, De Deyn PP. 2005. Cognitive decline, neuromotor and behavioural disturbances in a mouse model for fragile-X-associated tremor/ataxia syndrome (FXTAS). Behav Brain Res 162: 233239.
  • Verkerk AJMH, Pieretti M, Sutcliffe JS, Fu YH, Kuhl DP, Pizzuti A, Reiner O, Richards S, Victoria MF, Zhang F, Eussen BE, van Ommen G-JB, Blonden LAJ, Riggins GJ, Chastain JL, Kunst CB, Galjaard H, Caskey CT, Nelson DL, Oostra BA, Warren ST. 1991. Identification of a gene (FMR-1) containing a CGG repeat co-incident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell 65: 905914.
  • Worman HJ, Courvalin J-C. 2004. How do mutations in lamins A and C cause disease? J Clin Invest 113: 349351.
  • Zuhlke C, Budnik A, Gehlken U, Dalski A, Purmann S, Naumann M, Schmidt M, Burk K, Schwinger E. 2004. FMR1 premutation as a rare cause of late onset ataxia. J Neurol 251: 14181419.