Fragile X Premutation Carriers: Characteristic MR Imaging Findings of Adult Male Patients with Progressive Cerebellar and Cognitive Dysfunction

References

1. ↵
   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

   PubMedWeb of Science
2. ↵
   Rousseau F, Morel M-L, Rouillard P, Khandjian EW, Morgan K. Surprisingly low prevalence of FMR1 premutation among males from the general population. American Society of Human Genetics Annual Meeting, October 28–November 1,1997 , Baltimore.
3. ↵
   Hagerman RJ, Hagerman PJ. Fragile X syndrome: a model of gene-brain-behavior relationships. Mol Genet Metab 2001;74:89–97

   CrossRefPubMed
4. ↵
   Dorn MB, Mazzocco MM, Hagerman RJ. Behavioral and psychiatric disorders in adult male carriers of fragile X. J Am Acad Child Adolesc Psychiatry 1994;256–264
5. Franke P, Leboyer M, Gansicke M, et al. Genotype-phenotype relationship in female carriers of the premutation and full mutation of FMR-1. Psych Res 1998;80:113–127

   CrossRef
6. Sobesky WE, Hagerman RJ, Cronister A, eds. The Treatment of Emotional and Behavioral Problems in Fragile X Syndrome: Diagnosis, Treatment, and Research. 2nd ed. Baltimore: The Johns Hopkins University Press;1996 :332–348
7. Franke P, Maier W, Hautzinger M, et al. Fragile-X carrier females: evidence for a distinct psychopathological phenotype. Am J Med Genet 1996;64:334–339

   CrossRefPubMedWeb of Science
8. ↵
   Riddle JE, Cheema A, Sobesky WE, et al. Phenotypic involvement in females with the FMR1 gene mutation. Am J Ment Retard 1998;102:590–601

   CrossRefPubMedWeb of Science
9. ↵
   Schwartz CE, Dean J, Howard Peebles PN, et al. Obstetrical and gynecological complications in fragile X carriers: a multicenter study. Am J Med Genet 1994;51:400–402

   CrossRefPubMedWeb of Science
10. ↵
    Allingham-Hawkins DJ, Babul-Hirji R, Chitayat D, et al. Fragile X premutation is a significant risk factor for premature ovarian failure: The International Collaborative POF in Fragile X Study: preliminary data. Am J Med Genet 1999;83:322–325

    CrossRefPubMedWeb of Science
11. ↵
    Hagerman RJ, Leehey M, Heinrichs W, et al. Intention tremor, parkinsonism and generalized brain atrophy in older male carriers of fragile X. Neurology 2001;57:127–130

    Abstract/FREE Full Text
12. ↵
    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

    Abstract/FREE Full Text
13. ↵
    Hagerman RJ, Greco CM, Chudley AE, et al. Neuropathology and neurodegenerative features in some older male premutation carriers of fragile X syndrome. Am J Hum Genet 2001;69[suppl]:177
14. ↵
    Taylor AK, Safanda JF, Fall MZ, et al. Molecular predictors of cognitive involvement in female carriers of fragile X syndrome. JAMA 1994;271:507–514

    CrossRefPubMedWeb of Science
15. ↵
    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 2001;38:453–456

    Abstract/FREE Full Text
16. ↵
    Tassone F, Hagerman RJ, Taylor AK, Gane LW, Godfrey TE, Hagerman PJ. Elevated levels of FMR1 messenger RNA in g carrier males: a new mechanism of involvement in the fragile X syndrome. Am J Hum Genet 2000;66:6–15

    CrossRefPubMedWeb of Science
17. ↵
    Willemsen R, Mohkamsing S, de Vries BB, et al. Rapid antibody test for fragile X syndrome. Lancet 1995;345:1147–1148

    CrossRefPubMedWeb of Science
18. ↵
    Willemsen R, Smits A, Mohkamsing S, et al. Rapid antibody test for diagnosing fragile X syndrome: a validation of the technique. Hum Genet 1997;99:308–311

    CrossRefPubMedWeb of Science
19. ↵
    Tassone F, Hagerman RJ, Ilke DN, et al. FMRP expression as a potential prognostic indicator in fragile X syndrome. Am J Med Genet 1999;84:250–261

    CrossRefPubMedWeb of Science
20. ↵
    Synek V, Reuben JR, Du Boulay GH. Comparing Evans’ index and computerized axial tomography in assessing relationship of ventricular size to brain size. Neurology 1976;26:231–233

    Abstract/FREE Full Text
21. ↵
    Hahn FJ, Rim K. Frontal ventricular dimensions on normal computed tomography. Radiology 1976;126:593–596
22. ↵
    Oberle I, Rousseau F, Heitz D, et al. Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome. Science 1991;252:1097–1102

    FREE Full Text
23. ↵
    Rantamaki M, Krahe R, Paetau A, Cormand B, Mononen I, Udd B. Adult-onset autosomal recessive ataxia with thalamic lesions in a Finnish family. Neurology 2001;57:1043–1049

    Abstract/FREE Full Text
24. ↵
    Savoiardo M, Strada L, Girotti F, et al. Olivopontocerebellar atrophy: MR diagnosis and relationship to multisystem atrophy. Radiology 1990;174:693–696

    PubMedWeb of Science
25. Gilman S, Little R, Johanns J, et al. Evolution of sporadic olivopontocerebellar atrophy into multiple system atrophy. Neurology 2000;55:527–532

    Abstract/FREE Full Text
26. ↵
    Adachi M, Hosoya T, Yamaguchi K, Kawanami T, Kato T. Diffusion- and T2-weighted MRI of the transverse pontine fibres in spinocerebella degeneration. Neuroradiology 2000;42:803–809

    CrossRefPubMedWeb of Science
27. ↵
    Caraceni T, Savoiardo M, Grisoli M, Testa D, Girotti F. Multiple system atrophy. Arch Neurol 1996;53:212–213

    CrossRefPubMed
28. ↵
    Nakagawa N, Katayama T, Makita Y, Kuroda K, Aizawa H, Kikuchi K. A case of spinocerebellar ataxia type 6 mimicking olivopontocerebellar atrophy. Neuroradiology 1999;41:505–503
29. ↵
    Satoh JI, Tokumoto H, Yukitake M, et al. Spinocerebellar ataxia type 6: MRI of three Japanese patients. Neuroradiology 1998;40:222–227

    CrossRefPubMedWeb of Science
30. Namekawa M, Takiyama Y, Ando Y, et al. Choreiform movements in spinocerebellar ataxia type 1. J Neurol Sci 2001;187:103–106

    CrossRefPubMed
31. Nakayama T, Nakayama K, Takahashi Y, et al. Case of spinocerebellar ataxia type 1 showing high intensity lesions in the frontal white matter on T2-weighted magnetic resonance images. Med Sci Monit 2001;72:299–303
32. Klockgether T, Skalej M, Wedekind D, et al. Autosomal dominant cerebella ataxia type I MRI-based volumetry of posterior fossa structures and basal ganglia in spinocerebellar ataxia types 1, 2 and 3. Brain 1998;121:1687–1693

    Abstract/FREE Full Text
33. O’Hearn E, Holmes SE, Calvert PC, Ross CA, Margolis RL. SCA-12: tremor with cerebellar and cortical atrophy is associated with a CAG repeat expansion. Neurology 2001;56 ;299–303

    Abstract/FREE Full Text
34. Day JW, Schut LJ, Moseley ML, Durand AC, Ranum LP. Spinocerebellar ataxia type 8. Neurology 2000;55:649–657

    Abstract/FREE Full Text
35. Ikeda Y, Shizuka-Ikeda M, Watanabe M, Schmitt M, Okamoto K, Shoji M. Asymptomatic CTG expansion at the SCA8 locus is associated with cerebellar atrophy on MRI. J Neurol Sci 2000 :182:76–79

    CrossRefPubMedWeb of Science
36. Stevanin G, Herman A, Brice A, Dürr A. Clinical and MRI findings in spino-cerebellar ataxia type 5. Neurology 1999;53 ;355–1357
37. ↵
    Giuffrida S, Saponara R, Restivo D, et al. Supratentorial atrophy in spinocerebellar ataxia type 2: MRI study of 20 patients. J Neurol 1999;246:383–388

    CrossRefPubMedWeb of Science
38. ↵
    Tomiyasu H, Yoshii F, Ohnuki Y, Ikeda JE, Shinohara. The brainstem and thalamic lesions in dentatorubral-pallidoluysian atrophy: an MRI study. Neurology 1998;50:1887–1890
39. Miyazaki M, Kato T, Hashimoto T, Harada M, Kondo I, Kuroda Y. MR of childhood-onset dentatorubral-pallidoluysian atrophy. AJNR Am J Neuroradiol 1995;16:1834–1836

    Abstract
40. ↵
    Koide R, Onodera O, Ikeuchi T, et al. Atrophy of the cerebellum and brainstem in dentatorubral pallidoluysian atrophy: influence of CAG repeat size on MRI findings. Neurology 1997;49:1605–1612

    Abstract/FREE Full Text
41. ↵
    Schulz JB, Klockgether T, Petersen D, et al. Multiple system atrophy: natural history, MRI morphology and dopamine receptor imaging with ¹²³IBZM-SPECT. J Neurol Neurosurg Psychiatry 1994;57:1047–1056

    Abstract/FREE Full Text
42. ↵
    Bhattacharya K, Saadia D, Eisenkraft B, et al. Brain magnetic resonance imaging in multiple-system atrophy and Parkinson disease: a diagnostic algorithm. Arch Neurol 2002;59:835–842

    CrossRefPubMedWeb of Science
43. ↵
    Matsuura T, Sasaki H, Tashiro K. Atypical MR findings in Wilson’s disease: pronounced lesions in the dentate nucleus causing tremor. J Neurol Neurosurg Psychiatry 1998;64:161

    FREE Full Text
44. ↵
    Lee J, Lacomis D, Comu S, Jacobson J, Kanal E. Acquired hepato-cerebral degeneration: MR and pathologic findings. AJNR Am J Neuroradiol 1998;19:485–487

    Abstract
45. ↵
    Akiyama K, Takizawa S, Tokuoka K, Ohnuki Y, Kobayashi N, Shinohara Y. Bilateral middle cerebellar peduncle infarction caused by traumatic vertebral artery dissection. Neurology 2000;56:693–695

    FREE Full Text
46. ↵
    Menor F, Marti-Bonmati L, Arana E, Poyatos C, Cortina H. Neurofibromatosis type 1 in children: MR imaging and follow-up studies of central nervous system findings. Eur J Radiol 1998;26:121–131

    CrossRefPubMed
47. ↵
    Oka M, Katayama S, Imon Y, Ohshita T, Mimori Y, Nakamura S. Abnormal signals in proton density-weighted MRI of the superior cerebellar peduncle in progressive supranuclear palsy. Acta Neurol Scand 2001;104:1–5

    CrossRefPubMedWeb of Science