Neuropathology of fragile X-associated tremor/ataxia syndrome (FXTAS)

Brain

Volumn 129, Issue 1, 2006, Pages 243-255

  Greco, C M ^a   Berman, R F ^d   Martin, R M ^d   Tassone, F ^c,d   Schwartz, P H ^f   Chang, A ^g   Trapp, B D ^g   Iwahashi, C ^d   Brunberg, J ^b   Grigsby, J ^e   Hessl, D ^b   Becker, E J ^d   Papazian, J ^c   Leehey, M A ^e   Hagerman, R J ^b,c   Hagerman, P J ^c,d  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c UNIVERSITY OF CALIFORNIA   (United States)

^d UNIVERSITY OF CALIFORNIA   (United States)

^e UNIVERSITY OF COLORADO   (United States)

^f CHILDREN S HOSPITAL OF ORANGE COUNTY   (United States)

^g LERNER RESEARCH INSTITUTE   (United States)

Author keywords

Dementia; FMR1; Parkinson; RNA toxicity; Trinucleotide repeat

Indexed keywords

FRAGILE X MENTAL RETARDATION PROTEIN; MESSENGER RNA;

AGED; ALLELE; ARTICLE; ASTROCYTE; AUTONOMIC NERVE; AUTOPSY; BRAIN ATROPHY; BRAIN REGION; BRAIN SPONGIOSIS; BRAIN TISSUE; CELL COUNT; CELL NUCLEUS INCLUSION BODY; CLINICAL ARTICLE; CLINICAL FEATURE; CLINICAL TRIAL; CONTROLLED CLINICAL TRIAL; CONTROLLED STUDY; DEATH; DEGENERATIVE DISEASE; DISEASE ASSOCIATION; DISEASE COURSE; FRAGILE X ASSOCIATED TREMOR ATAXIA SYNDROME; FRAGILE X SYNDROME; FUNCTIONAL MAGNETIC RESONANCE IMAGING; GENE MUTATION; HETEROZYGOTE; HUMAN; HUMAN TISSUE; HYPERTENSION; HYPOGLOSSAL NERVE; MALE; MICROSCOPY; NEUROPATHOLOGY; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; PREDICTION; PRIORITY JOURNAL; QUANTITATIVE ANALYSIS; SPINAL CORD; WHITE MATTER;

AGE OF ONSET; AGED; AGED, 80 AND OVER; ANALYSIS OF VARIANCE; ASTROCYTES; ATAXIA; BRAIN; CASE-CONTROL STUDIES; CELL COUNT; FRAGILE X MENTAL RETARDATION PROTEIN; FRAGILE X SYNDROME; HUMANS; INTRANUCLEAR INCLUSION BODIES; MALE; NEURONS; SPINAL CORD; TREMOR; TRINUCLEOTIDE REPEAT EXPANSION;

EID: 30344473617     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awh683     Document Type: Article

References (43)

1. Alexander GE, Crutcher MD. Functional architecture of basal ganglia circuits: neural substrates of parallel processing. Trends Neurosci 1990; 13: 266-71.
2. Bacalman S, Farzin F, Bourgeois J, Cogswell J, Goodlin-Jones B, Gane LW, et al. Psychiatric phenotype of the fragile X-associated tremor/ataxia syndrome (FXTAS) in males: newly described fronto-subcortical dementia. J Clin Psychiatry 2005. In press.
3. Beilina A, Tassone F, Schwartz PH, Sahota P, Hagerman PJ. Redistribution of transcription start sites within the FMR1 promoter region with expansion of the downstream CGG-repeat element. Hum Mol Genet 2004; 13: 543-9.
4. Benjamini Y, Hochberg Y. Controlling the false discovery rate: a practical and powerful approach to multiple testing. J R Statist Soc 1995; 57 B: 289-300.
5. Berry-Kravis E, Lewin F, Wuu J, Leehey M, Hagerman R, Hagerman P, et al. Tremor and ataxia in fragile X premutation carriers: blinded videotape study. Ann Neurol 2003; 53: 616-23.
6. Berry-Kravis E, Potanos K, Weinberg D, Zhou L, Goetz CG. Fragile X-zassociated tremor/ataxia syndrome in sisters related to X-inactivation. Ann Neurol 2005; 57: 144-7.
7. Brunberg JA, Jacquemont S, Hagerman RJ, Berry-Kravis E, Grigsby J, Leehey M, et al. Fragile X premutation carriers: characteristic MR imaging findings in adult males with progressive cerebellar and cognitive dysfunction. Am J Neurorad 2002; 23: 1757-66.
8. Curtin F, Schulz P. Multiple correlations and Bonferroni's correction. Biol Psychiatry 1998; 44: 775-7.
9. 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: 371-8.
10. Fuster J. The prefrontal cortex: anatomy, physiology, and neuropsychology of the frontal lobe. Philadelphia: Lippincott-Raven; 1997.
11. Greco C, Hagerman RJ, Tassone F, Chudley A, Del Bigio MR, Jacquemont S, et al. Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriers. Brain 2002; 125: 1760-71.
12. Grigsby J, Brega AG, Jacquemont S, Loesch DZ, Leehey MA, Goodrich GK, et al. Impairment in the cognitive functioning of men with Fragile X Tremor-Ataxia Syndrome (FXTAS). J Neurol Sci 2005. In press.
13. Hagerman PJ, Hagerman RJ. The fragile-X premutation: a maturing perspective. Am J Hum Genet 2004; 74: 805-16.
14. Hagerman RJ, Leehey M, Heinrichs W, Tassone F, Wilson R, Hills J, et al. Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X. Neurology 2001; 57: 127-30.
15. Hagerman RJ, Leavitt BR, Farzin F, Jacquemont S, Greco CM, Brunberg JA, et al. Fragile-X-associated tremor/ataxia syndrome (FXTAS) in females with the FMR1 premutation. Am J Hum Genet 2004; 74: 1051-6.
16. Ivry RB, Baldo JV. Is the cerebellum involved in learning and cognition? Curr Opin Neurobiol 1992; 2: 212-6.
17. Iwahashi CK, Yasui DH, An H-J, Greco CM, Tassone F, Nannen K, et al. Protein composition of the intranuclear inclusions of FXTAS. Brain 2005, Advance Access published October 24, 2005, doi:10.1093/brain/awh650.
18. Jacquemont S, Hagerman RJ, Leehey M, Grigsby J, Zhang L, Brunberg JA, et al. Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates. Am J Hum Genet 2003; 72: 869-78.
19. Jacquemont S, Farzin F, Hall D, Leehey M, Tassone F, Gane L, et al. Aging in individuals with the FMR1 mutation. Am J Ment Retard 2004a; 109: 154-64.
20. Jacquemont S, Hagerman RJ, Leehey MA, Hall DA, Levine RA, Brunberg JA, et al. Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population. JAMA 2004b; 291: 460-9.
21. Jacquemont S, Orrico A, Galli L, Sahota PK, Brunberg JA, Anichini C, et al. Spastic paraparesis, cerebellar ataxia, and intention tremor: a severe variant of FXTAS? J Med Genet 2005; 42: e14.
22. Jin P, Zarnescu DC, Zhang F, Pearson CE, Lucchesi JC, Moses K, et al. RNA-mediated neurodegeneration caused by the fragile X premutation rCGG repeats in Drosophila. Neuron 2003; 39: 739-47.
23. Kalimo H, Viitanen M, Amberla K, Juvonen V, Marttila R, Poyhonen M, et al. CADASIL: hereditary disease of arteries causing brain infarcts and dementia. Neuropathol Appl Neurobiol 1999; 25: 257-65.
24. 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 Mol Genet 2001; 10: 1449-54.
25. Leehey MA, Munhoz RP, Lang AE, Brunberg JA, Grigsby J, Greco C, et al. The fragile X premutation presenting as essential tremor. Arch Neurol 2003; 60: 117-21.
26. Leiner HC, Leiner AL, Dow RS. Does the cerebellum contribute to mental skills? Behav Neurosci 1986; 100: 443-54.
27. Luria A. Human brain and psychological processes. New York: Harper & Row; 1966.
28. Luria A. Higher cortical functions in man. Vol. 2nd ed. New York: Basic Books; 1980.
29. Middleton F, Strick P. New concepts about the organization of basal ganglia output. In: Obeso J, DeLong M, Ohye C , Marsden C, editors. The basal ganglia and new surgical approaches for Parkinson's disease. Advances in neurology. Vol. 74. Philadelphia: Lippincott-Raven; 1997: p. 57-68.
30. Mothersead PK, Conrad K, Hagerman RJ, Greco CM, Hessl D, Tassone F. GRAND ROUNDS: An atypical progressive dementia in a male carrier of the fragile X premutation: An example of fragile X-associated tremor/ataxia syndrome. Appl Neuropsychol 2005; 12: 169-78.
31. Newell KL, Hyman BT, Growdon JH, Hedley-Whyte ET. Application of the National Institute on Aging (NIA)-Reagan Institute criteria for the neuropathological diagnosis of Alzheimer disease. J Neuropathol Exp Neurol 1999; 58: 1147-55.
32. 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: 1006-18.
33. Scarnati E, Florio T. The pedunculopontine nucleus and related structures: functional organization. In: Obeso J, DeLong M, Ohye C, Marsden C, editors. The basal ganglia and new surgical approaches for Parkinson's disease. Advances in neurology. Vol. 74. Philadelphia: Lippincott-Raven; 1997: p. 97-110.
34. Schmahmann J. An emerging concept. The cerebellar contribution to higher function. Arch Neurol 1991; 48: 1178-87.
35. Stuss D, Benson D. The frontal lobes. New York: Raven Press; 1986.
36. Tassone F, Hagerman RJ, Iklé DN, Dyer PN, Lampe M, Willemsen R, et al. FMRP expression as a potential prognostic indicator in fragile X syndrome. Am J Med Genet 1999; 84: 250-61.
37. Tassone F, Hagerman RJ, Chamberlain WD, Hagerman PJ. Transcription of the FMR1 gene in individuals with fragile X syndrome. Am J Med Genet 2000a; 97: 195-203.
38. 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. Am J Hum Genet 2000b; 66: 6-15.
39. 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.
40. Tullberg M, Fletcher E, DeCarli C, Mungas D, Reed BR, Harvey DJ, et al. White matter lesions impair frontal lobe function regardless of their location. Neurology 2004; 63: 246-53.
41. Van Dam D, Errijgers V, Kooy RF, Willemsen R, Mientjes E, Oostra BA, et al. Cognitive decline, neuromotor and behavioural disturbances in a mouse model for fragile-X-associated tremor/ataxia syndrome (FXTAS). Behav Brain Res 2005; 162: 233-9.
42. Willemsen R, Hoogeveen-Westerveld M, Reis S, Holstege J, Severijnen LA, Nieuwenhuizen IM, et al. The FMR1 CGG repeat mouse displays ubiquitin-positive intranuclear neuronal inclusions; implications for the cerebellar tremor/ataxia syndrome. Hum Mol Genet 2003; 12: 949-59.
43. Zuhlke C, Budnik A, Gehlken U, Dalski A, Purmann S, Naumann M, et al. FMR1 premutation as a rare cause of late onset ataxia-evidence for FXTAS in female carriers. J Neurol 2004; 251: 1418-9.