Selective spatial processing deficits in an at-risk subgroup of the fragile X premutation

Brain and Cognition

Volumn 79, Issue 1, 2012, Pages 39-44

  Hocking, Darren R ^a   Kogan, Cary S ^b   Cornish, Kim M ^a  

^a MONASH UNIVERSITY   (Australia)

^b UNIVERSITY OF OTTAWA   (Canada)

Author keywords

Fragile X syndrome; Parietal lobe; Prefrontalcortex; Premutation carrier; Visuoperceptual; Visuospatial; Working memory

Indexed keywords

ADULT; AGED; ALLELE; ARTICLE; ATAXIA; CLINICAL ARTICLE; CONTROLLED STUDY; DECISION MAKING; DEGENERATIVE DISEASE; DEPTH PERCEPTION; FOLLOW UP; FRAGILE X SYNDROME; GENE IDENTIFICATION; GENETIC ASSOCIATION; GENETIC RISK; HETEROZYGOTE; HUMAN; INTELLIGENCE QUOTIENT; MALE; MENTAL TASK; MUTATIONAL ANALYSIS; MUTATOR GENE; NEUROPSYCHOLOGICAL TEST; PRIORITY JOURNAL; RISK ASSESSMENT; RISK FACTOR; SPATIAL DISCRIMINATION; TASK PERFORMANCE; TREMOR; TRINUCLEOTIDE REPEAT; VISUAL MEMORY; WORKING MEMORY; X LINKED FRAGILE X MENTAL RETARDATION 1 GENE;

ADULT; AGE FACTORS; AGED; ALLELES; FOLLOW-UP STUDIES; FRAGILE X MENTAL RETARDATION PROTEIN; FRAGILE X SYNDROME; HUMANS; LONGITUDINAL STUDIES; MALE; MEMORY, SHORT-TERM; MIDDLE AGED; NEUROPSYCHOLOGICAL TESTS; SPACE PERCEPTION; TRINUCLEOTIDE REPEAT EXPANSION; VISUAL PERCEPTION;

EID: 84857959596     PISSN: 02782626     EISSN: 10902147     Source Type: Journal    
DOI: 10.1016/j.bandc.2012.02.005     Document Type: Article

References (47)

1. Andrews T.J., Schluppeck D. Neural responses to Mooney images reveal a modular representation of faces in human visual cortex. Neuroimage 2004, 21:91-98.
2. Aziz M., Stathopulu E., Callias M., et al. Clinical features of boys with fragile X premtutions and intermediate alleles. American Journal of Medical Genetics 2003, 121B:119-127.
3. Belger A., Puce A., Krystal J.H., Gore J.C., Goldman-Rakic P., McCarthy G. Dissociation of mnemonic and perceptual processes during spatial and nonspatial working memory using fMRI. Human Brain Mapping 1998, 6:14-32.
4. Benton A.L., Varney N.R., Hamsher K.D. Visuospatial judgement. A clinical test. Archives of Neurology 1978, 35:364-367.
5. Bollini A.M., Arnold M.C., Keefe R.S. Test-retest reliability of the Dot test of visuospatial working memory in patients with schizophenia and controls. Schizophrenia Research 2000, 45:169-173.
6. Brega A.G., Goodrich G., Bennett R.E., et al. The primary cognitive deficit among males with fragile X-associated tremor ataxia syndrome is a dysexecutive syndrome. Journal of Clinical and Experimental Neuropsychology 2008, 30(8):853-869.
7. Calderon J., Perry R.J., Erzinclioglu S.W., Berrios G.E., Dening T.R., Hodges J.R. Perception, attention, and working memory are disproportionately impaired in dementia with Lewy bodies compared with Alzheimer's disease. Journal of Neurology, Neurosurgery and Psychiatry 2001, 70:157-164.
8. Carlson S., Martinkauppi S., Rama P., Salli E., Korvenoja A., Aronen H.J. Distribution of cortical activation during visuospatial nback tasks as revealed by functional magnetic resonance imaging. Cerebral Cortex 1998, 8:743-752.
9. Chen Y., Tassone F., Berman R.F., Hagerman P.J., Hagerman R.J., Willemsen R., et al. Murine hippocampal neurons expressing Fmr1 gene premutations show early developmental deficits and late degeneration. Human Molecular Genetics 2010, 19(1):196-208.
10. Cornish K.M., Li L., Kogan C.S., Jacquement S., Turk J., Dalton A., et al. Age-dependent cognitive changes in carriers of the fragile X syndrome. Cortex 2008, 44(6):628-636.
11. Cornish K.M., Hocking D.R., Moss S.A., Kogan C.S. Selective executive markers of at-risk profiles associated with the fragile X premutation. Neurology 2011, 77:618-622.
12. Cornish K.M., Kogan C.S., Li L., Turk J., Jacquemont S., Hagerman R.J. Lifespan changes in working memory in fragile X premutation males. Brain and Cognition 2009, 69(3):551-558.
13. Cornish K.M., Turk J., Hagerman R. The fragile X continuum: new advances and perspectives. Journal of Intellectual Disability Research 2008, 52(Pt 6):469-482.
14. Courtney S.M., Ungerleider L.G., Keil K., Haxby J.V. Object and spatial visual working memory activate separate neural systems in human cortex. Cerebral Cortex 1996, 6(1):39-49.
15. Cunningham C.L., Martínez Cerdeño V., Navarro Porras E., Prakash A.N., Angelastro J.M., et al. Premutation CGG-repeat expansion of the FMR1 gene impairs mouse neocortical development. Human Molecular Genetics 2011, 20(1):64-79.
16. Farzin F., Perry H., Hessl D., et al. Autism spectrum disorders and attention-deficit/hyperactivity disorder in boys with the fragile X premutation. Journal of Developmental and Behavioral Pediatrics 2006, 27(2):S137-S144.
17. Goodrich-Hunsaker N.J., Wong L.M., McLennan Y., Srivastava S., Tassone F., Harvey D., et al. Young adult female fragile X premutation carriers show age- and genetically-modulated cognitive impairments. Brain and Cognition 2011, 75(3):255-260.
18. Goodrich-Hunsaker N.J., Wong L.M., McLennan Y., Tassone F., Harvey D., Rivera S.M., et al. Adult female fragile X premutation carriers exhibit age- and CGG repeat length-related impairments on an attentionally based enumeration task. Frontiers Human Neuroscience 2011, 5:63.
19. Grigsby J., Brega A.G., Engle K., et al. Cognitive profile of fragile X premutation carriers with and without fragile X-associated tremor ataxia syndrome. Neuropsychology 2008, 22(1):48-60.
20. Hagerman P.J., Hagerman R.J. The fragile X premutation: A maturing perspective. American Journal of Human Genetics 2004, 74(5):805-816.
21. Hagerman P.J., Hagerman R.J. Fragile X-associated tremor/ataxia syndrome-an older face of the fragile X gene. Nature Clinical Practice Neurology 2007, 3(2):107-112.
22. Hagerman R.J., 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(1):127-130.
23. Hashimoto R.I., Backer K.C., Tassone F., Hagerman R.J., Rivera S.M. An fMRI study of the prefrontal activity during the performance of a working memory task in premutation carriers of the fragile X mental retardation 1 gene with and without fragile X-associated tremor/ataxia syndrome (FXTAS). Journal of Psychiatric Research 2011, 45(1):36-43.
24. Hunter J.E., Abramowitz A., Rusin M., Sherman S.L. Is there evidence for neuropsychological and neurobehavioral phenotypes among adults without FXTAS who carry the FMR1 premutation? A review of current literature. Genet Med 2009, 11(2):79-89.
25. Iwahashi C., Tassone F., Hagerman R.J., Yasui D., Parrott G., Nguyen D., et al. A quantitative ELISA assay for the fragile X mental retardation 1 protein. Journal of Molecular Diagnostics 2009, 11(4):281-289.
26. Jacquemont S., Hagerman R.J., Leehey M., et al. Fragile X premutation tremor/ataxia syndrome: Molecular, clinical, and neuroimaging correlates. American Journal of Human Genetics 2003, 72(4):869-878.
27. Kenneson A., Zhang F., Hagedorn C.H., Warren S.T. Reduced FMRP and increased FMR1 transcription is proportionally associated with CGG repeat number in intermediate-length and premutation carriers. Human Molecular Genetics 2001, 10(14):1449-1454.
28. Kéri S., Benedek G. Visual pathway deficit in female fragile X premutation carriers: A potential endophenotype. Brain Cognition 2009, 69:291-295.
29. Kéri S., Benedek G. The perception of biological and mechanical motion in female fragile X premutation carriers. Brain Cognition 2010, 72:197-201.
30. Kéri S., Benedek G. Fragile X protein expression is linked to visual functions in healthy male volunteers. Neuroscience 2011, 192:345-350.
31. Klingberg T., O'Sullivan B.T., Roland P.E. Bilateral activation of fronto-parietal networks by incrementing demand in a working memory task. Cerebral Cortex 1997, 7(5):465-471.
32. Kogan C.S., Bertone A., Cornish K., Boutet I., Der Kaloustian V.M., Andermann E., et al. Integrative cortical dysfunction and pervasive motion perception deficit in fragile X syndrome. Neurology 2004, 63:1634-1639.
33. Kogan C.S., Boutet I., Cornish K., Zangenehpour S., Mullen K.T., Holden J., et al. Differential impact of the FRM1 gene on visual processing in fragile X syndrome. Brain 2004, 127:591-601.
34. Kogan C.S., Turk J., Hagerman R.J., Cornish K.M. Impact of the Fragile X mental retardation 1 (FMR1) gene premutation on neuropsychiatric functioning in adult males without fragile X-associated Tremor/Ataxia syndrome: A controlled study. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 2008, 147B(6):859-872.
35. McKeef T.J., Tong F. The timing of perceptual decisions for ambigous face stimuli in the human ventral visual cortex. Cerebral Cortex 2007, 17:669-678.
36. Miller L.J., McIntosh D.N., McGrath J., Shyu V., Lampe M., Taylor A.K., et al. Electrodermal responses to sensory stimuli in individuals with fragile X syndrome: a preliminary report. American Journal of Medical Genetics 1999, 83(4):268-279.
37. Mooney C.M. Age in the development of closure ability in children. Canadian Journal of Experimental Psychology 1957, 11:219-226.
38. Sevin M., Kutalik Z., Bergman S., et al. Penetrance of marked cognitive impairment in older male carriers of the FMR1 gene premutation. Journal of Medical Genetics 2009, 46(12):818-824.
39. Tassone F., Hagerman R.J., Loesch D.Z., Lachiewicz A., Taylor A.K., Hagerman P.J. Fragile X males with unmethylated, full mutation trinucleotide repeat expansions have elevated levels of FMR1 messenger RNA. American Journal of Medical Geneics 2000, 94(3):232-236.
40. Tassone F., Hagerman R.J., Taylor A.K., Gane L.W., Godfrey T.E., Hagerman P.J. 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(1):6-15.
41. Tranel D., Vianna E., Manzel K., Demasio H., Grabowski T. Neuroanatomical correlates of the Benton facial recognition test and judgement of line orientation test. Journal of Clinical and Experimental Neuropsychology 2009, 31(2):219-233.
42. Van der Molen M.J., Van der Molen M.W., Ridderinkhof K.R., Hamel B.C., Curfs L.M., Ramakers G.J. Auditory and visual cortical activity during selective attention in fragile X syndrome. Clinical Neurophysiology 2011, 10.1016/j.clinph.2011.08.023.
43. Van der Molen M.J., Van der Molen M.W., Ridderinkhof K.R., Hamel B.C., Curfs L.M., Ramakers G.J. Auditory change detection in fragile X syndrome males: A brain potential study. Clinical Neurophysiology 2011, 10.1016/j.clinph.2011.11.039.
44. Warrington E.K., James M. The Visual Object and Space Perception Battery 1991, Thames Valley Test Company, England.
45. Wechsler D. Wechsler Abbreviated Scale of Intelligence 1999, The Psychological Corporation, San Antonio, TX.
46. Willemsen R., Levenga J., Oostra B.A. CGG repeat in the FMR1 gene: size matters. Clinical Genetics 2011, 80(3):214-225.
47. Zangenehour S., Cornish K.M., Chaudhuri A. Whole-brain expression analysis of FMRP in adult monkey and its relationship to cognitive deficits in fragile X syndrome. Brain Research 2009, 1264:76-84.