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Fragile X syndrome. II. Cognitive and behavioral correlates of mutations of the FMR-1 gene

Published online by Cambridge University Press:  16 April 2020

P Franke
Affiliation:
Department of Psychiatry, University of Bonn, Sigmund Freud Str 25, D-53105 Bonn, Germany
B Barbe
Affiliation:
Groupe Hospitalier Pitié-Salpêtrière. 47 boulevard de l’Hôpital. 75651Paris cedex 13, France
M Leboyer
Affiliation:
Groupe Hospitalier Pitié-Salpêtrière. 47 boulevard de l’Hôpital. 75651Paris cedex 13, France
W Maier
Affiliation:
Department of Psychiatry, University of Bonn, Sigmund Freud Str 25, D-53105 Bonn, Germany
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Abstract

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Type
Original article
Copyright
Copyright © Elsevier, Paris 1996

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References

Abitbol, MMenini, CDelezoide, ALRhyner, TVekemans, MMallet, JNucleus basalis magnocellularis and hippocampus are the major sites of FMR-1 expression in the human fetal brain Nature Genet 1993 4 147153CrossRefGoogle ScholarPubMed
Arinami, TSato, MNakajima, SKondo, IAuditory brain-stem responses in the fragile X syndrome Am J Hum Genet 1988 43 4651Google ScholarPubMed
Berry-Kravis, ESklena, PDemonstration of abnormal cyclic AMP production in platelets from patients with fragile X syndrome Am J Med Genet 1993 45 8187CrossRefGoogle ScholarPubMed
Brainard, SSSchreiner, RAHagerman, RJCognitive profile of the carrier fragile X woman Am J Med Genet 1991 38 505508CrossRefGoogle Scholar
Brown, WTJenkins, ECFriedman, EBrooks, JWisniewski, KRaghutu, SFrench, JAutism is associated with the fragile X syndrome J Autism Dev Disord 1982 12 303308CrossRefGoogle ScholarPubMed
Butler, MGAllen, GAHaynes, JLSingh, DNWatson, MSBreg, WRAnthropometric comparison of mentally retarded males with and without the fragile X syndrome Am J Med Genet 1991 38 260268CrossRefGoogle ScholarPubMed
Ciancetti, CSannio-Fancello, GFratta, ALManconi, FOrana, APischedda, MPPruna, DSpinicci, GArchidiacono, NFilippi, GNeuropsychological, psychiatric and physical manifestations in 149 members from 18 fragile-X families Am J Med Genet 1991 40 234243CrossRefGoogle Scholar
Ciancetti, CFilippi, GSannio-Fancello, GFratta, ALMarrosu, MGDagna-Bricarelli, FSiniscalco, MPremutation for the Martin-Bell Syndrome analyzed in a large Sardianian Fam ily. II. Neuropsychological and Behavioral Data Am J Med Genet 1992 43 103110CrossRefGoogle Scholar
Cohen, ILVietze, PMSudhalter, VJenkins, ECBrown, WTEffects of age and communication level on eye contact in fragile X males and non-fragile X autistic males Am J Med Genet 1991 38 498502CrossRefGoogle ScholarPubMed
Cohen, ILSudhalter, VPfadt, AJenkins, ECBrown, WTVietze, PMWhy are autism and the fragile X syndrome associated? Conceptual and methodological issues Am J Hum Genet 1991 48 195202Google ScholarPubMed
Cronister, ASchreiner, RWittenberger, MAmiri, KHarris, KHagerman, RJHeterozygous Fragile X Female: Historical, physical, cognitive and cytogenetic features Am J Med Genet 1991 38 269274CrossRefGoogle ScholarPubMed
Crowe, SFHay, DANeuropsychological Dimensions of the fragile X Syndrome: support for a non-dominant hemisphere dysfunction hypothesis Neuropsychologia 1990 28 916CrossRefGoogle ScholarPubMed
Curfs, PMSchreppers-Tijdink, GAWiegers, AMvon Velzen, WFryns, JPAdaptive behavior in the fra (X) syndrome: a longitudinal study in eight patients Am J Med Genet 1989 34 502505CrossRefGoogle ScholarPubMed
Devys, DLutz, YRouyer, NBellocq, JPMandel, JLThe FMR-1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a fragile X premutation Nature Genet 4 1993 335410CrossRefGoogle ScholarPubMed
Dorn, MBMazzocco, MMHagerman, RJBehavioral and psy-chiatric disorders in adult male carriers of Fragile X J Am Child Adolesc Psychiatry 33 1994 256264CrossRefGoogle ScholarPubMed
Dykens, ELeckman, JPaul, RWatson, MCognitive, behavioral, and adaptive functioning in fragile X and non-fragile X retarded men J Autism Dev Disord 1988 18 4151CrossRefGoogle ScholarPubMed
Dykens, EMHodapp, RMLeckman, JFAdaptive and maladaptive functioning of institutionalized and noninstitutionalized fragile X males J Am Acad Child Adolesc Psychiatry 1989 283 427430CrossRefGoogle ScholarPubMed
Einfeld, SMolony, HHall, WAutism is not associated with the fragile X syndrome Am J Med Genet 1989 34 187193CrossRefGoogle Scholar
Ferri, RBrain-stem auditory evoked potentials in the fragile X syndrome Am J Hum Genet 1989 45 977978Google ScholarPubMed
Finelli, PFPueschel, SMPadre-Mendoza, TO'Brien, MMNeurological findings in patients with the fragile-X syndrome J Neurol Neurosurg Psychiatry 1985 48 150153CrossRefGoogle ScholarPubMed
Fisch, GSArinami, TFroster-Iskenius, UFryns, JPCurfs, LMBorghgraef, MHoward-Peebles, PNSchwartz, CESimensen, RJShapiro, LRRelationship between age and IQ among fragile X males: a multicenter study Am J Med genet 1991 38 481487CrossRefGoogle ScholarPubMed
Fisch, GSShapiro, LRSimensen, RSchwartz, CEFryns, JPBorghgraef, MCurfs, LMHoward-Peebles, PNArinami, TMavrou, ALongitudinal changes in IQ among fragile X males: clinical evidence of more than one mutation? Am J Med Genet 1992 43 2834CrossRefGoogle ScholarPubMed
Flindt de von, RBybel, BChudley, AELopes, FShort-term memory and cognitive variability in adult fragile X females Am J Med Genet 1991 38 488492CrossRefGoogle Scholar
Freund, LSReiss, ALHagerman, RVinogradow, SChromo some fragility and psychopathology in obligate female car-riers of the fragile-X chromosome Arch Gen Psychiatry 1992 49 5460CrossRefGoogle Scholar
Froster-Iskenius, UGPsychiatric aspects in the fragile X form of mental retardationRacagni, GBrunello, NFukuda, TBiologial Psychiatry Elsevier 1991 2 478480Google Scholar
Fryns, JPThe female and the Fragile X: a study of 144 obligate female carriers Am J Med Genet 1986 23 157169CrossRefGoogle ScholarPubMed
Fryns, JPMassive hydrocele in postpubertal fra (X) males Am J Med Genet 1994 49 259CrossRefGoogle ScholarPubMed
Grigsby, JKemper, MBHagerman, RJVerbal Learning and memory among heterozygous fragile X females Am J Med Genet 1992 43 111115CrossRefGoogle ScholarPubMed
Gigsby, JPKemper, MBHagerman, RJDevelopmental Gerstmann syndrome without aphasia in Fragile X syndrome Neuropsychologia 1987 25 881891CrossRefGoogle Scholar
Hagerman, RHull, CCarpenter, IStaley, LO'Connor, RSey del, CMazzocco, MTaylor, AHigh functioning males Am J Hum Genet 1993 53 Suppl, 144Google Scholar
Hagerman, RJSchreiner, RAKemper, MBWittenberger, MDZahn, BHabicht, KLongitudinal IQ changes in fragile X males Am J Med Genet 1989 33 513518CrossRefGoogle ScholarPubMed
Halmayer, JPintado, ELotspeich, L, et al.Molecular Analysis and test of linkage between the FMR-1 gene and infantile autism in multiplex families Am J Hum Genet 1994 55 951959Google Scholar
Hinton, VJDobkin, CSHalperin, JMJenkins, ECBrown, WTDing, XHCohen, IIRousseau, FMiezejeski, CMMode of inheritance influences behavioral expression and molecular control of cognitive deficits in female carriers of the fragile X syndrome Am J Med Genet 1992 43 8795CrossRefGoogle ScholarPubMed
Hodapp, RMDykens, EMHagerman, RJSchreiner, RLachiewicz, AMLeckman, JFDevelopmental implications of changing trajectories of IQ in males with fragile X syndrome Am Acad Child Adolesc Psychiatr 1990 29 214219CrossRefGoogle ScholarPubMed
Jeffries, FMReiss, ALBrown, WTMeyers, DAGlicksman, ACBandyopadhyay, SBipolar spectrum disorder and fragile X syndrome: a family study Biol Psychiatry 1993 33 213216CrossRefGoogle ScholarPubMed
Johnson, VPCarpenter, NJSkorey, PAMartin-Bell Syndrome segregating in a large kindred with normal transmitting males: clinical, cytogenetic, and linkage study Am J Med Genet 1991 38 275CrossRefGoogle Scholar
Kemper, MBHagerman, RJAltshul-Stark, DCognitive profiles of boys with the fragile X syndrome Am J Med Genet 1988 30 191200CrossRefGoogle ScholarPubMed
LeCouteur, ARutter, MLord, CRios, PRobertson, SHoldgrafer, MMcLennan, JAutism diagnostic interview: a stan dardized investigator-based instrument J Autism Dev Dis ord 1989 19 363387CrossRefGoogle Scholar
Loesch, DZHay, DASutherland, GRHalliday, JJudge, CWebb, GCPhenotypic variation in male-transmitted frag ile X: genetic inferences Am J Med Genet 1987 27 401417CrossRefGoogle Scholar
Maes, BFryns, JPVan Walleghem, MVan den Berghe, HCognitive functioning and information processing of adult mentally retarded men with fragile X syndrome Am J Med Gener 1994 50 190200CrossRefGoogle ScholarPubMed
Malmgren, HGustavson, KHWahlström, JArpi-Hendrikson, IBensch, JPettersen, UDahl, NInfantile autism — fragile X. Molecular findings support genetic heterogeneity Am J Med Genet 1992 44 830833CrossRefGoogle ScholarPubMed
Mazzocco, MMHagerman, RJCronister-Silverman, APen nington, BFSpecific frontal lobe deficits among woman with the fragile X gene J Am Acad Child Adolesc Psychiatry 31 1992 11411148CrossRefGoogle ScholarPubMed
Mazzocco, MMHagerman, RJPennington, BFProblem solving limitations among cytogenetically expressing fragile X women Am J Med Genet 1992 43 7886CrossRefGoogle ScholarPubMed
McConkie-Rosell, ALachiewicz, AMSpiridigliozzi, GATarleton, JSchoenwald, SPhelan, MCGoonewardena, PDing, XBrown, WTEvidence that methylation of the FMR-1 locus is responsible for variable phenotypic expres sion of the fragile X syndrome Am J Hum Genet 1993 53 800809Google Scholar
Miezejeski, CMJenkins, ECHill, ALWisniewski, KFrench, JHBrown, WTA profile of cognitive deficit in females from fragile X families Neuropsychologia 1986 24 405409CrossRefGoogle ScholarPubMed
Moore, PSJChudley, AEWinter, JSDPituitary-gonadal axis in prepubertal boys with the fragile X syndrome Am J Med Genet 1991 39 374375CrossRefGoogle ScholarPubMed
Musumeci, SAFerri, RElia, MColognola, RMBergonzi, PTassinari, CAEpilepsy and Fragile X Syndrome: a follow up study Am J Med Genet 1991 38 511513CrossRefGoogle ScholarPubMed
Prouty, LARogers, RCStevenson, REDean, JHPalmer, KKSimensen, RJCoston, GNSchwartz, CEFragile X Syn drome: growth, development, and intellectual function Am J Med Genet 1988 30 123142CrossRefGoogle Scholar
Reiss, ALPatel, SKumar, AJFreund, LPreliminary Commu nication: Neuroanatomical variations of the posterior fossa in men with the fragile X (Martin-Bell) syndrome Am J Med Genet 1988 31 407414CrossRefGoogle Scholar
Reiss, ALHagerman, RJVinogradov, SAbrams, MKing, RJPsychiatric disability in female carriers of the fragile X chromosome Arch Gen Psychiatry 1988 45 2530CrossRefGoogle ScholarPubMed
Reiss, ALFreund, LVinogradov, SHagerman, RCronister, AParental inheritance and psychological disability in fragile X females Am J Med Genet 1989 45 697705Google ScholarPubMed
Reiss, ALAylward, EFreund, LSJoshi, PKBryan, RNNeuro anatomy of the fragile X syndrome: the posterior fossa Ann Neurol 1991 29 2632CrossRefGoogle Scholar
Reiss, ALFreund, LAbrams, MTBoehm, CKazazian, HNeu robehavioral effects of the fragile X premutation in adult women: a controlled study Am J Hum Genet 1993 52 884894Google Scholar
Rousseau, RHeitz, DTarleton, J, et al.A multicenter study on genotype-phenotype correlations in the fragile X syndrome using direct diagnosis with probe StB12.3: the first 2253 cases Am J Hum Genet 1994 55 225237Google ScholarPubMed
Sherman, SLJacobs, PAMorton, NE, et al.Further segregation analysis of the fragile X syndrome with special reference to transmitting males Hum Genet 1985 69 289299CrossRefGoogle ScholarPubMed
Smalley, SLAsarnow, RFSpence, AAutism genetics. A decade of research Arch Gen Psychiatry 1988 45 953961CrossRefGoogle ScholarPubMed
Sobesky, WEHull, CEHagermann, RJSymptoms of schizoty pal personality disorder in fragile X women J Am Acad Child Adolesc Psychiatry 1994 33 247255CrossRefGoogle Scholar
Steyaert, JBorghgraef, MGaulthier, CFryns, JPVan Den Ber, ghe HCognitive profile in adult, normal intelligent female fragile X carriers Am J Med Genet 1992 43 116119CrossRefGoogle ScholarPubMed
Sudhalter, VScarborough, HSCohen, ISyntactic delay and pragmatic deviance in the language of fragile X males Am J Med Genet 1991 38 493497Google Scholar
Sudhalter, VMaranion, MBrooks, PExpressive semantic defi cit in the productive language of males with fragile X syndrome Am J Med Genet 1992 43 6571CrossRefGoogle Scholar
Theobald, TMHay, DAJudge, CIndividual variation and specific cognitive deficits in the Fra (X) syndrome Am J Med Genet 1987 28 111CrossRefGoogle ScholarPubMed
Thompson, MMGulley, MLRogeness, GAClayton, RJJohnson, CHazelton, BCho, CGZellmer, VTNeurobehavioral characteristics of CGG amplification status in fragile X females Am J Med Genet (Neuropsychiatr Genet) 1994 54 378383CrossRefGoogle ScholarPubMed
Tizzano, EFBaiget, MHigh proportion of twins in carriers of fragile X syndrome J Med Genet 1992 29 599600CrossRefGoogle ScholarPubMed
Turner, GRobinson, HWake, SMartin, NDizygous twinning and premature menopause in fragile X syndrome Science 1994 344 1500Google ScholarPubMed
Veenema, HGeraedts, JPMBeverstock, GCPearson, PLThe fragile X syndrome in a large family. I Cytogenetic and clinical investigations J Med Genet 1987 24 2331CrossRefGoogle Scholar
Veenema, HVeneema, TGeraedts, JPMThe fragile X syndrome in a large family. II. Psychological investigations J Med Genet 1987 24 3238CrossRefGoogle Scholar
Vieregge, PClinico-neurological investigations in the fra (X) form of mental retardation J Neurol 236 1989 8592CrossRefGoogle ScholarPubMed
Wiegers, AMCurfs, LMVermeer, ELFryns, JPAdaptive Behavior in the fragile X syndrome: profile and development Am J Med Genet 1993 47 216220CrossRefGoogle ScholarPubMed
Wisniewski, KEFrench, JHFernando, SBrown, WTJenkins, ECFriedman, EHill, ALMiezejeski, CMFragile X syndrome: associated neurological abnormalities and developmental disabilities Ann Neurol 1985 18 665669CrossRefGoogle ScholarPubMed
Wisniewski, KESegan, SMMiezejeski, CMSersen, EARudelli, RDThe Fra(X) Syndrome: Neurological, electrophysiological, and neuropathological abnormalities Am J Med Genet 1991 38 476480CrossRefGoogle ScholarPubMed
Wolff, PHGardner, JLappen, JPaccia, JMeryash, DVariable expression of the fragile X syndrome in heterozygous females of normal intelligence Am J Med Genet 1988 30 213225CrossRefGoogle ScholarPubMed
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