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. PMID: 11445641
Brussino A, Gellera C, Saluto A, et al. FMR1 gene premutation is a frequent genetic cause of lateonsetmsporadic cerebellar ataxia. Neurology 2005;64:145–147. PMID: 15642922
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. PMID: 11854169
Rousseau F, Rouillard P, Morel ML, Khandjian EW, Morgan K. Prevalence of carriers of premutationsize alleles of the FMRI gene--and implications for the population genetics of the fragile X syndrome. Am J Hum Genet 1995;57:1006–1018. PMID: 7485149
Jacquemont S, Hagerman RJ, Leehey MA, et al. Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population. Journal of the American Medical Association 2004;291:460–469. PMID: 14747503
Coffey SM, Cook K, Tartaglia N, et al. Expanded clinical phenotype of women with the FMR1 premutation. Am J Med Genet A 2008;146A:1009–1016. PMID: 18348275
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 the fragile-X syndrome. American Journal of Human Genetics 2000;66:6–15. PMID: 10631132
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:e43. PMID: 15060119
Berry-Kravis E, Potanos K, Weinberg D, Zhou L, Goetz CG. Fragile X-associated tremor/ataxia syndrome in sisters related to X-inactivation. Ann Neurol 2005;57:144–147. PMID: 15622531
Jacquemont S, Hagerman RJ, Leehey M, et al. Fragile X premutation tremor/ataxia syndrome:
molecular, clinical, and neuroimaging correlates. American Journal of Human Genetics 2003;72:869– 878. PMID: 12638084
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;67:87–94. PMID: 16426093
Grigsby J, Brega AG, Leehey MA, et al. Impairment of executive cognitive functioning in males with fragile X-associated tremor/ataxia syndrome. Mov Disord 2007;22:645–650. PMID: 17266074
Leehey MA, Berry-Kravis E, Goetz CG, et al. FMR1 CGG repeat length predicts motor dysfunction
in premutation carriers. Neurology 2008;70:1397–1402. PMID: 18057320
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;67:87–94. PMID: 16426093
Hessl D, Tassone F, Loesch DZ, et al. Abnormal elevation of FMR1 mRNA is associated with psychological symptoms in individuals with the fragile X premutation. Am J Med Genet B Neuropsychiatr Genet 2005;139:115–121. PMID: 16184602
Hagerman RJ, Coffey SM, Maselli R, et al. Neuropathy as a presenting feature in fragile X-associated tremor/ataxia syndrome. Am J Med Genet A 2007;143A:2256–2260. PMID: 17726686
Jacquemont S, Hagerman RJ, Leehey M, et al. Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates. American Journal of Human Genetics 2003;72:869– 878. PMID: 12638084
