Genetics and mathematics: FMR1 premutation female carriers

Neuropsychologia

Volumn 50, Issue 14, 2012, Pages 3757-3763

  Semenza, Carlo ^a,b   Bonollo, Sabrina ^a   Polli, Roberta ^a   Busana, Cristina ^a   Pignatti, Riccardo ^c   Iuculano, Teresa ^d,e   Maria Laverda, Anna ^a   Priftis, Konstantinos ^a,b   Murgia, Alessandra ^a  

^a UNIVERSITY OF PADOVA   (Italy)

^b IRCCS SAN CAMILLO HOSPITAL   (Italy)

^c ISTITUTO AUXOLOGICO ITALIANO   (Italy)

^d UNIVERSITY COLLEGE LONDON   (United Kingdom)

^e STANFORD UNIVERSITY   (United States)

Author keywords

Calculation; Fragile X permutation; Numbers; Visuo spatial system

Indexed keywords

ADULT; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; FMR1 GENE; FMR1 PREMUTATION FEMALE CARRIER; FRAGILE X ASSOCIATED TREMOR ATAXIA SYNDROME; GENE; GENETIC ANALYSIS; GENETIC DISORDER; HUMAN; INHERITANCE; INTELLIGENCE; MATHEMATICAL ANALYSIS; RATING SCALE; SKILL; TASK PERFORMANCE;

ADULT; CASE-CONTROL STUDIES; COGNITION DISORDERS; COMPREHENSION; FEMALE; FRAGILE X MENTAL RETARDATION PROTEIN; FRAGILE X SYNDROME; GENETIC TESTING; HUMANS; MATHEMATICS; MIDDLE AGED; MUTATION; NEUROPSYCHOLOGICAL TESTS; PHOTIC STIMULATION; PROBLEM SOLVING;

EID: 84869879295     PISSN: 00283932     EISSN: 18733514     Source Type: Journal    
DOI: 10.1016/j.neuropsychologia.2012.10.021     Document Type: Article

References (56)

1. Allingham-Hawkins D.J., Babul-Hirji R., Chitayat D., Holden J., Yang K.T., Lee C., et al. Fragile X premutation is a significant risk factor for premature ovarian failure: the International Collaborative POF in Fragile X study-preliminary data. American Journal of Human Genetics 1999, 83:322-325.
2. Ansari D., Donlan C., Thomas M.S., Ewing S.A., Peen T., Karmiloff-Smith A. What makes counting count? Verbal and visuo-spatial contributions to typical and atypical number development. Journal of Experimental Child Psychology 2003, 85:50-62.
3. Bertella L., Girelli L., Marchi S., Molinari E., Semenza C. Mathematical skills in Prader-Willi syndrome. Journal of Intellectual Disability Research 2005, 49:159-169.
4. Bruandet M., Molko N., Cohen L., Dehaene S. A cognitive characterization of dyscalculia in Turner syndrome. Neuropsychologia 2004, 42:288-298.
5. Butterworth B., Granà A., Piazza M., Girelli L., Price C., Skuse D. Language and the origin of number skills: karyotypic differences in Turner's syndrome. Brain and Language 1999, 69:486-488.
6. Cohen Kadosh R., Cohen Kadosh K., Schuhmann T., Kaas A., Goebel R., Henik A., et al. Virtual dyscalculia induced by parietal-lobe TMS impairs automatic magnitude processing. Current Biology 2007, 17:689-693.
7. Cohen Kadosh R., Soskic S., Iuculano T., Kanai R., Walsh V. Modulating neuronal activity produces specific and long-lasting changes in numerical competence. Current Biology 2010, 20:2016-2020.
8. Crawford D.C., Acuna J.M., Sherman S.L. FMR1 and fragile X syndrome Human genome epidemiology review. Genetics in Medicine 2001, 3:359-371.
9. Dehaene S., Bossini S., Giraux P. The mental representation of parity and number magnitude. Journal of Experimental Psychology: General 1993, 122:371-396.
10. Dehaene S., Cohen L. Towards and Anatomical and functional model of number processing. Mathematical Cognition 1995, 1:83-120.
11. Dehaene S., Cohen L. Cerebral pathways for calculation: double dissociation between rote verbal and quantitative knowledge of arithmetic. Cortex 1997, 2:219-250.
12. Dehaene S., Piazza M., Pinel P., Cohen L. Three parietal circuits for number processing. Cognitive Neuropsychology 2003, 20:487-506.
13. Delazer M., Domahs F., Lochy A., Karner E., Benke T., Poewe W. Number processing and basal ganglia dysfunction: a single case study. Neuropsychologia 2004, 42:1050-1062.
14. Delazer M., Girelli L., Granà A., Domahs F. Number processing and calculation-normative data from healthy adults. Clinical Neuropsychology 2003, 17:331-350.
15. Fias W., Brysbaert M., Geypens F., d'Ydewalle G. The importance of magnitude information in numerical processing: Evidence from the SNARC effect. Mathematical Cognition 1996, 2:95-110.
16. Fisch G.S. Cognitive-behavioral profiles of females with the fragile X mutation. American Journal of Medical Genetics 2006, 140:673-677.
17. Freund L., Reiss A.L. Cognitive profiles associated with the fragile X syndrome in males and females. American Journal of Medical Genetics 1991, 38:542-547.
18. 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, 75:255-260.
19. 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 in Human Neuroscience 2011, 5:63.
20. Hantash F.M., Goos D.M., Crossley B., Anderson B., Zhang K., Sun W., et al. FMR1 premutation carrier frequency in patients undergoing routine population-based carrier screening: insights into the prevalence of fragile X syndrome, fragile X-associated tremor/ataxia syndrome, and fragile X-associated primary ovarian insufficiency in the United States. Genetics in medicine 2011, 13:39-45.
21. Hantash F.M., Goos D.G., Tsao D., Quan F., Buller-Burckle A., Peng M., et al. Qualitative assessment of FMR1 (CGG)n triplet repeat status in normal, intermediate, premutation, full mutation, and mosaic carriers in both sexes: implications for fragile X syndrome carrier and newborn screening. Genetics in Medicine 2010, 12:162-173.
22. Hagerman R.J., Leavitt B.R., Farzin F., Jacquemont S., Greco C.M., Brunberg J.A., et al. Fragile-X-associated tremor/ataxia syndrome (FXTAS) in females with the FMR1 premutation. American Journal of Human Genetics 2004, 74:1051-1056.
23. Hashimoto R., Backer K.C., Tassone F., Hagerman R.J., Rivera S.M. An fMRI study of 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, 45:36-43.
24. Hessl D., Rivera S.M., Koldewyn K., Cordeiro L., Adams J., Tassone F., et al. Amygdala dysfunction in men with the fragile X premutation. Brain 2007, 130:404-416.
25. Hessl D., Wang J.M., Schneider A., Koldewyn K., Le L., Iwahashi C., et al. Decreased fragile X mental retardation protein expression underlies amygdale dysfunction in carriers of the fragile X premutation. Biological Psychiatry 2011, 70:859-865.
26. 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. Genetics in medicine 2009, 11:79-89.
27. Johnston C., Eliez S., Dyer-Friedman J., Hessl D., Glaser B., Blasey C., et al. Neurobehavioral phenotype in carriers of the fragile X premutation. American Journal of Medical Genetics 2001, 103:314-319.
28. Kaufmann L., Nuerk H.C. Basic number processing deficits in ADHD: a broad examination of elementary and complex number processing skills in 9- to 12-year-old children with ADHD-C. Developmental Science 2008, 11(5):692-699.
29. Kéry S., Benedek G. Visual pathway deficit in female fragile premutation carriers: a potential endophenotype. Brain and Cognition 2009, 69:291-295.
30. Kemper M.B., Hagerman R.J., Ahmad R.S., Mariner R. Cognitive profiles and the spectrum of clinical manifestations in heterozygous fragile (X) females. American Journal of Human Genetics 1993, 52:884-894.
31. Lachiewicz A.M., Dawson D.V., Spiridigliozzi G.A., McConkie-Rossel A. Arithmetic difficulties in females with the fragile X premutation. American Journal of Medical Genetics 2006, 140:665-672.
32. Lorch R.F., Meyer S. Regression analyses of repeated measures data in cognitive research. Journal of Experimental Psychology: Learning, Memory, & Cognition 1990, 16:149-157.
33. Mazzocco M.M.M., Baumgardner T., Freund L.S., Reiss A.L. Social functioning among girls with fragile X or Turner syndrome and their sisters. Journal of Autism and Developmental Disorders 1998, 28:509-517.
34. Mazzocco M.M.M. Mathematics disability and MD subtypes: Evidence from studies of Turner syndrome, fragile X, and neurofibromatosis type 1. Journal of Learning Disabilities 2001, 34:520-533.
35. McCloskey M. Cognitive mechanisms in numerical processing: Evidence from acquired dyscalculia. Cognition 1992, 44:107-157.
36. Miezejeski C.M., Jenkins E.C., Hill A.L., Wisniewski K., French J.H., Brown W.T. A profile of cognitive deficit in females from fragile X families. Neuropsychologia 1986, 24:405-409.
37. Molko N., Cachia A., Riviere D., Mangin J.F., Bruandet M., Le Bihan D., et al. Functional and structural alterations of the intraparietal sulcus in a developmental dyscalculia of genetic origin. Neuron 2003, 40:847-858.
38. Murphy M.M., Mazzocco M.M.M., Gerner G., Henry A.E. Mathematics learning disability in girls with Turner syndrome or fragile X Syndrome. Brain and Cognition 2006, 61:195-210.
39. Paterson S.J., Girelli L., Butterworth B., Karmiloff-Smith A. Are numerical impairments syndrome specific? Evidence from Williams syndrome and Down's syndrome. The Journal of Child Psychology and Psychiatry 2006, 47:190-204.
40. Pennington B.F., O'Connor R.A., Sudhalter V. Toward a neuropsychology of fragile X syndrome. Fragile X Syndrome: Diagnosis, Treatment, and Research 1991, 173-201. Johns Hopkins University Press, Baltimore. R.J. Hagerman, A.C. Cronister (Eds.).
41. Reiss A.L., Freund L., Abrams M.T., Boehm C., Kazazian H. Neurobehavioral effects of the fragile X premutation in adult women: A controlled study. American Journal of Human Genetics 1993, 52:884-894.
42. Rovet J., Szekely C., Hockenberry M.N. Specific arithmetic calculation deficits in children with Turner syndrome. Journal of Clinical and Experimental Neuropsychology 1994, 16:820-839.
43. Rykhlevskaia E., Uddin L.Q., Kondos L., Menon V. Neuroanatomical correlates of developmental dyscalculia: Combined evidence from morphometry and tractography. Frontiers in Human Neuroscience 2009, 3(51):1-13.
44. Semenza C. Number Processing. Handbook of the neuroscience of language 2008, 219-227. Elsevier, Oxford. B. Stemmer, H. Whitaker (Eds.).
45. Semenza C., Pignatti R., Bertella L., Cerini F., Mori I., Molinari E., et al. Genetics and Mathematics: Evidence from Prader-Willi syndrome. Neuropsychologia 2008, 46:206-212.
46. Tassabehji M., Metcalfe K., Karmiloff-Smith A., Carette M.J., Grant J., Dennis N., et al. Williams syndrome: use of chromosomal microdeletions as a tool to dissect cognitive and physical phenotypes. American Journal of Human Genetics 1999, 64:118-125.
47. Tassone F., Hagerman R.J., Taylor A.K., Gane L.W., Godfrey T.E., Hagerman P.J. Elevated levels of FMR1 messengerRNA in carrier males: a new mechanism of involvement in the fragile X syndrome. American Journal of Human Genetics 2000, 66:6-15.
48. Temple C.M., Carney R.A. Intellectual functioning of children with Turner syndrome: a comparison of behavioural phenotypes. Developmental medicine and child neurology 1993, 35:691-698.
49. Temple C.M., Marriott A. Arithmetical ability and disability in Turner's syndrome. Developmental neuropsychology 1998, 14:47-67.
50. Turner G., Robinson H., Laing S. Population screening for fragile X. Lancet 1992, 339:1210-1213.
51. Udwin O., Davies M., Howlin P. A longitudinal study of cognitive abilities and educational attainment in Williams syndrome. Developmental medicine and child neurology 1996, 38:1020-1029.
52. Umiltà C., Priftis K., Zorzi M. The spatial representation of numbers: Evidence from neglect and pseudoneglect. Experimental Brain Research 2009, 192:561-569.
53. Ward J. The students guide to cognitive neuroscience 2010, Psychology Press, Hove. 2nd ed.
54. Wolff P.H., Gardner J., Lappen J., Paccia J., Meryash D. Variable expression of the fragile X syndrome in heterozygous females of normal intelligence. American Journal of Medical Genetics 1998, 30:213-225.
55. Zamarian L., Bodner T., Revkin S.K., Benke T., Boesch S., Donnemiller E., et al. Numerical deficits in a single case of basal ganglia dysfunction. Neurocase 2009, 15:390-404.
56. Zamarian L., Visani P., Delazer M., Seppi K., Mair K.J., Diem A., et al. Parkinson's disease and arithmetics: the role of executive functions. Journal of the Neurological Sciences 2006, 248:124-130.