Hostname: page-component-848d4c4894-hfldf Total loading time: 0 Render date: 2024-06-05T02:58:56.278Z Has data issue: false hasContentIssue false
  • English
  • Français

Síndrome del cromosoma X frágil. II. correlatos cognitivos y conductuales de las mutaciones del gen FMR-1

Published online by Cambridge University Press:  12 May 2020

P. Franke ,
B. Barbe ,
M. Leboyer  and
W. Maier
P. Franke
Affiliation:
Departamento de Psiquiatría, Universidad de Bonn, Alemania
B. Barbe
Affiliation:
Groupe Hospitalie Pitié-Salpétriére, París, Francia
M. Leboyer
Affiliation:
Groupe Hospitalie Pitié-Salpétriére, París, Francia
W. Maier
Affiliation:
Departamento de Psiquiatría, Universidad de Bonn, Alemania
Get access

Extract

El síndrome del cromosoma X frágil (o síndrome de Martin Bell) se hereda como una condición genética dominante vinculada al cromosoma X de retraso mental con penetrancia incompleta: 79% para varones y 35% para mujeres (Sherman et al,1985).

A diferencia de otras condiciones vinculadas al cromosoma X (por ejemplo, la acromatopsia ligada a él), el síndrome del cromosoma X frágil noafecta sólo a los individuos varones, sino también a las mujeres portadoras de la anomalía genética. En realidad, datos recientes con respecto al funcionamiento cognitivo indican la existencia de un amplio continuo que va desde formas graves de retraso mental, lo mismo que diversos grados de reducción de las capacidades intelectuales, hasta disfunciones neuropsicológicas selectivas circunscritas en varones y mujeres, aunque típicamente los varones están más afectados que las mujeres.

Type
Artículo original
Information
European Psychiatry (Ed. Española) , Volume 4 , Issue 3 , April 1997 , pp. 155 - 167
Copyright
Copyright © European Psychiatric Association 1997

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

References

BIBLIOGRAFIA

Abibol, MMenini, CDelezoide, ALRhyner, TVekemans, MMallet, J. Nucleus basalis magnocellularis and hippocampus are the major sites of FMR-1 expression in the human fetal brain. Nature Genet 1993; 4: 147-53.CrossRefGoogle Scholar
Arinami, TSato, MNakajima, SKondo, I. Auditory brain-stem responses in the frague X syndrome. Am J Hum Genet 1988; 43: 46-51.Google Scholar
Berry-Kravis, ESklena, P. Demonstration of abnormal cyclic AMP production in platelets from patients with frague X syndrome. Am J Med Genet 1993; 45: 81-7.CrossRefGoogle Scholar
Brainard, SSSchreiner, RAHagerman, RJ. Cognitive profile of the carrier frague X woman. Am J Med Genet 1991; 38: 505-8.CrossRefGoogle Scholar
Brown, WTJenkins, ECFriedman, EBrooks, JWisniewski, KRaghutu, SFrench, J. Austim is associated with the frague X syndrome. J Autism Dev Disord 1982; 12: 303-8. .CrossRefGoogle Scholar
Butler, MGAlien, GAHaynes, JLSingh, DNWatson, MSBreg, WR. Anthropometric comparison of mentally retarded males with and without the frague X syndrome. Am J Med Genet 1991; 38: 260-8.CrossRefGoogle Scholar
Ciancetti, CSannio-Fancello, G, Fratta Al, Manconi, FOrana, APischedda, MPPruna, DSpinicci, GArchidiacono, NFilippi, G. Neuropsychological, psychiatric and physical manifestations in 149 members from 18 fragile-X families. Am J Med Genet 1991; 40: 234-43.CrossRefGoogle Scholar
Ciancetti, CFilippi, GSannio-Fancello, GFratta, ALMarrosu, MGDagna-Bricarelli, FSiniscalco, M. Premutation for the Martin-Bell Syndrome analyzed in a large Sardianian Family. II. Neuropsychological and Behavioral Data. Am J Med Genet 1992; 43: 103-10.CrossRefGoogle Scholar
Cohen, ILVietze, PMSudhalter, VJenkins, ECBrown, WT. Effects X males and non-fragile X autistic males. Am J Med Genet 1991a; 38: 498-502.CrossRefGoogle ScholarPubMed
Cohen, ILSudhalter, VPfadt, AJenkins, ECBrown, WTVietze, PM.Why are autism and the frague X syndrome associated? Conceptual and methodological issues. Am J Hum Genet 1991b; 48: 195-202.Google Scholar
Cronister, ASchreiner, RWittenberger, MAmiri, KHarris, KHagerman, RJ, Heterozygous Frague X Female: Historical, physical, cognitive and cytogenetic features. Am J Med Genet 1991; 38: 269-74.CrossRefGoogle Scholar
Crowe, SFHay, DA. Neuropsychological Dimensions of the frague X Syndrome: support for a non-dominant hemisphere dysfunction hypothesis. Neuropsychologia 1990; 28: 9-16.CrossRefGoogle Scholar
Curfs, PMSchreppers-Tijdink, GAWiegers, AM, von Velzen, WFryns, JP. Adaptive behavior in the fra(X) syndrome: a longitudinal study in eight patients. Am J Med Genet 1989; 34: 502-5.CrossRefGoogle ScholarPubMed
Devys, DLutz, YRouyer, NBellocq, JPMandel, JL. The FMR-1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a frague X premutation. Nature Genet 1993; 4: 335-40.CrossRefGoogle Scholar
Dora, MBMazzocco, MMHagerman, RJ. Behavioral and psychiatric disorders in adult male carriers of Frague X. J Am Child Adolesc Psychiatry 1994; 33: 256-64.Google Scholar
Dykens, ELeckman, JPaul, RWatson, M. Cognitive, behavioral, and adaptive functioning in frague X and non-fragile X retarded men. J Autism Dev Disord 1988; 18: 41-51.CrossRefGoogle Scholar
Dykens, EMHodapp, RMLeckman, JF. Adaptive and maladaptive functioning of institutionalized and noninstitutionalized frague X males. J Am Acad Child Adolesc Psychiatry 1989; 28 (3): 427-30.CrossRefGoogle Scholar
Einfeld, SMolony, HHall, W. Autism is not associated with the frague X syndrome. Am J Med Genet 1989; 34: 187-93.CrossRefGoogle ScholarPubMed
Ferri, R. Brain-stem auditory evoked potentials in the frague X syndrome. Am J Hum Genet 1989; 45: 977-8.Google Scholar
Finelli, PFPueschel, SMPadre-Mendoza, T, O’Brien MM. Nerological findings in patients with the fragile- X syndrome. J Neurol Neurosurg Psychiatry 1985; 48: 150-3.CrossRefGoogle Scholar
Fisch, GSArinami, TFroster-Iskenius, UFryns, JPCurfs, LMBorghgraef, MHoward-Peebles, PNSchwartz, CESimensen, RJShapiro, LR. Relationship between age and IQ among frague X males: a multicenter study. Am J Med Genet 1991; 38: 481-7.CrossRefGoogle Scholar
Fisch, GSShapiro, LRSimensen, RSchwartz, CEFryns, JPBorghgraef, MCurfs, LMHoward-Peebles, PNArinami, TMavrou, A. Longitudinal changesin IQ among frague X males: clinical evidence of mor than one mutation? Am J Med Genet 1992; 43: 28-34.Google Scholar
Flindt de von, RBybel, BChudley, AELopes, F. Shortterm memory and cognitive variability in adult frague X females. Am J Med Genet 1991; 38: 488-92.CrossRefGoogle Scholar
Freund, LSReiss, ALHagerman, RVinogradow, S. Chromosome fragility and psychopathology in obligate female carriers of the fragile-X chromosome. Arch Gen Psychiatry 1992; 49: 54-60.CrossRefGoogle ScholarPubMed
Froster-Iskenius, UG. Psychiatric aspects in the frague X form of mental retardation. In: Racagni, GBrunello, NFukuda, T, Eds. Biological Psychiatry. Elsevier, 1991; 2: 478-80.Google Scholar
Fryns, JP. The female and the frague X: a study of 144 obligate female carriers. Am J Med Genet 1986; 23: 157-69.CrossRefGoogle Scholar
Fryns, JP. Massive hydrocele in postpubertal fra(X) males. Am J Med Genet 1994; 49: 259.CrossRefGoogle ScholarPubMed
Grigsby, JKemper, MBHagerman, RJ. Verbal Leaming and memory among heterozygous frague X females. Am J Med Genet 1992; 43: 111-5.CrossRefGoogle Scholar
Gigsby, JPKemper, MBHagerman, RJ. Developmental Gerstmann syndrome without aphasia in Frague X syndrome. Neuropsychologia 1987; 25: 881-91.CrossRefGoogle Scholar
Hagerman, RHull, CCarpenter, IStaley, LO’Connor, RSeydel, CMazzocco, MTaylor, A. High functioning males. Am J Hum Genet 1993; 53 (Suppl): 144.Google Scholar
Hagerman, RJSchreiner, RAKemper, MBWittenberger, MDZahn, BHabicht, K. Longitudinal IQ changes in frague X males. Am J Med Genet 1989; 33: 513-8.CrossRefGoogle Scholar
Halmayer, JPintado, ELotspeich, Let al. Molecular Analysis and test of linkage between the FMR-1 gene and infantile autism in multiplex families. Am J Hum Genet 1994; 55: 951-9.Google Scholar
Hinton, VJDobkin, CSHalperin, JMJenkins, ECBrown, WTDing, XHCohen, IIRousseau, FMiezejeski, CM. Mode of inheritance influences behavioral expression and molecular control of cognitive deficits in female carriers of the frague X syndrome. Am J Med Genet 1992; 43: 87-95.CrossRefGoogle Scholar
Hodapp, RMDykens, EMHagerman, RJSchreiner, RLachiewicz, AMLeckman, JF. Developmental implications of changing trajectories of IQ in males with frague X syndrome. Am Acad Child Adolesc Psychiatr 1990; 29: 214-9.CrossRefGoogle Scholar
Jeffries, FMReiss, ALBrown, WTMeyers, DAGlicksman, ACBandyopadhyay, S. Bipolar spectrum disorder and frague X syndrome: a family study. Biol Psychiatry 1993; 33: 213-6.CrossRefGoogle Scholar
Johnson, VPCarpenter, NJSkorey, PA. Martin-Bell Syndrome segregating in a large kindred with normal transmiting males: clinical, cytogenetic, and linkage study. Am J Med Genet 1991; 38: 275-82.CrossRefGoogle Scholar
Kemper, MBHagerman, RJAlshul-Stark, D. Cognitive profiles of boys with the frague X syndrome. Am J Med Genet 1988; 30: 191-200.CrossRefGoogle Scholar
LeCouteur, ARutter, MLord, C, Ríos, PRobertson, SHoldgrafer, MMcLennan, J. Autism diagnostic interview: a standardized investigador-based instrument. J Autism Dev Disord 1989; 19: 363-87.CrossRefGoogle Scholar
Loesch, DZHay, DASutherland, GRHalliday, JJudge, CWebb, GC. Phenotypic variation in male-transmitted fraggile X: genetic inferences. Am J Med Genet 1987; 27: 401-17.CrossRefGoogle ScholarPubMed
Maes, BFryns, JPVan Walleghem, M, Van den Berghe, H. Cognitive functioning and information processing of adult mentally retarded men with frague X syndrome. Am J Med Genet 1994; 50: 190-200.CrossRefGoogle Scholar
Malmgren, HGustavson, KHWahlstrom, JArpi-Hendrikson, IBensch, JPettersen, UDahl, N. Infantile autism - frague X. Molecular findings support genetic heterogeneity. Am J Med Genet 1992; 44: 830-3.CrossRefGoogle Scholar
Mazzocco, MMHagerman, RJCronister-Silverman, APennington, BF. Specific frontal lobe deficits among woman with the frague X gene. J Am Acad Child Adolesc Psychiatry 1992a; 31: 1141-8.CrossRefGoogle Scholar
Mazzocco, MMHagerman, RJPennington, BF. Problem solving limitations among cytogenetically expressing frague X women. Am J Med Genet 1992b; 43: 78-86.CrossRefGoogle Scholar
McConkie-Rosell, ALachiewicz, AMSpiridigliozzi, GATarleton, JSchoenwald, SPhelan, MCGoonewardena, PDing, XBrown, WT. Evidence that methylation of the FMR-1 locus is responsible for variable phenotypic expression of the frague X syndrome. Am J Hum Genet 1993; 53: 800-9.Google Scholar
Miezejeski, CMJenkins, ECHill, AlWisniewski, KFrench, JHBrown, WT. A profile of cognitive deficit in females from frague X families. Neuropsychologia 1986; 24: 405-9.CrossRefGoogle Scholar
Moore, PSJChudley, AEWinter, JSD. Pituitary-gonadal axis in prepubertal boys with the frague X syndrome. Am J Med Genet 1991; 39: 374-5.CrossRefGoogle Scholar
Musumeci, SAFerri, RElia, MColognola, RMBergonzi, PTassinari, CA. Epilepsy and Frague X Syndrome: a followup study. Am J Med Genet 1991; 38: 511-3.CrossRefGoogle Scholar
Prouty, LARogers, RCStevenson, REDean, JHPalmer, KKSimensen, RJCoston, GnSchwartz, CE. Frague X Syndrome: growth, development, and intellectual function. Am J Med Genet 1988; 30: 123-42.CrossRefGoogle Scholar
Reiss, ALPatel, SKumar, AJFreund, L. Preliminary Communication: Neuroanatomical variations of the posterior fossa in men with the frague X (Martin-Bell) syndrome. Am J Med Genet 1988b; 31: 407-14.CrossRefGoogle Scholar
Reiss, AlHagerman, RJVinogradov, SAbrams, MKing, RJ. Psychiatric disability in female carriers of the frague X chromosome. Arch Gen Psychiatry 1988a; 45: 25-30.CrossRefGoogle Scholar
Reiss, AlFreund, LVinogradov, SHagerman, RCronister, A. Parental inheritance and psychological disability in frague X females. Am J Med Genet 1989; 45: 697-705.Google Scholar
Reiss, ALAylward, EFreund, LSJoshi, PKBryan, RN. Neuroanatomy of the frague X syndrome: the posterior fossa. Ann Neurol 1991; 29: 26-32.CrossRefGoogle Scholar
Reiss, ALFreund, LAbrams, MTBoehm, CKazaian, H. Neurobehavioral effects of the frague X premutation in adult women: a controlled study. Am J Hum Genet 1993; 52: 884-94.Google Scholar
Rousseau, RHeitz, DTarleton, Jet 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: 225-37.Google ScholarPubMed
Sherman, SLJacobs, PAMorton, NEet al. Further segregation analysis of the frague X syndrome with special reference to transmitting males. Hunt Genet 1985; 69: 289-99.Google Scholar
Smalley, SLAsarnow, RFSpence, A. Autism and genetics. A decade of research. Arch Gen Psychiatry 1988; 45: 953-61.CrossRefGoogle ScholarPubMed
Sobesky, WEHull, CEHagermann, RJ. Symptoms of schizotypal personality disorder in frague X women. J Am Acad Child Adolesc Psychiatry 1994; 33: 247-55.CrossRefGoogle Scholar
Steyaert, JBorghgraef, MGaulthier, CFryns, JPVan Den Berghe, H. Cognitive profile in adult, normal intelligent female frague X carriers. Am J Med Genet 1992;43:116-9.CrossRefGoogle Scholar
Sudhalter, VScarborough, HSCohen, I. Syntactic delay and pragmatic deviance in the language of frague X males. Am J Med Genet 1991; 38: 493-7.CrossRefGoogle Scholar
Sudhalter, VMaranion, MBrooks, P. Expressive semantic deficit in the productive language of males with frague X syndrome. Am J Med Genet 1992; 43: 65-71.CrossRefGoogle Scholar
Theobald, TMHay, DAJudge, C. Individual variation and specific cognitive deficits in the Fax(X) syndrome. Am J Med Genet 1987; 28: 1-11.CrossRefGoogle Scholar
Thompson, NMGulley, MLRogeness, GAClayton, RJJohnson, CHazelton, BCho, CGZellmer, VT. Neurobehavioral characteristics of CGG amplification status in frague X females. Am J Med Genet (Neuropsychiatr Genet) 1994; 54: 378-83.CrossRefGoogle Scholar
Tizzano, EFBaiget, M. High proportion of twins in carriers of frague X syndrome. J Med Genet 1992; 29: 599-600.CrossRefGoogle Scholar
Turner, GRobinson, HWake, SMartin, N. Dizygous twinning and premature menopause in frague X syndrome. Science 1994; 344: 1500.Google Scholar
Veenema, HGeraedts, JPMBeverstock, GC, Pearson, PL. The frague X syndrome in a large family. I Cytogenetic and clinical investigations. J Med Genet 1987a: 24: 23-31.CrossRefGoogle Scholar
Veenema, HVeneema, TGeraedts, JPM.The frague X syndrome in a large family. II. Psychological investigations. J Med Genet 1987b; 24: 32-8.CrossRefGoogle Scholar
Vieregge, P, Froster-Iskenius. Clinico-neurological investigations in the fra(X) from of mental retardation. J Neurol 1989; 236; 85-92.CrossRefGoogle ScholarPubMed
Wiegers, AMCurfs, LMVermeer, ELFryns, JP. Adaptive Behavior in the frague X syndrome: profile and development. Am J Med Genet 1993; 47: 216-20.CrossRefGoogle Scholar
Wisniewski, KEFrench, JhFemando, SBrown, WTJenkins, ECFriedman, EHill, ALMiezejeski, CM. Fragile X syndrome: associated neurological abnormalities and developmental disabilities. Ann Neurol 1985; 18: 665-9.CrossRefGoogle ScholarPubMed
Wisniewski, KESegan, SMMiezejeski, CMSersen, EARudelli, RD. The Fra(X) Syndrome: Neurological, electrophysiological, and neuropathological abnormalities. Am J Med Genet 1991; 38: 476-80.CrossRefGoogle ScholarPubMed
Wolff, PHGardner, JLappen, JPaccia, JMeryash, D. Variable expression of the frague X syndrome in heterozygous females of normal intelligence. Am J Med Genet 1988; 30: 213-25.CrossRefGoogle Scholar