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The Italian Journal of Neurological Sciences

, Volume 11, Issue 6, pp 577–582 | Cite as

HLA study of 21 families with two or more members affected by febrile convulsions

  • Lenti C. 
  • Gambini E. 
  • Illeni M. T. 
  • Ghidoni A. 
Original Articles

Abstract

21 Italian families with at least two members who had had febrile convulsions (FC) were HLA-typed for class I antigens. A total of 49 subjects and 43 close relatives (parents or sibs) were examined. No single antigen or haplotype was statistically more frequent among pooled FC subjects. The study, however, is not conclusive regarding a relationship between FC and HLA region because of the possible genetic heterogeneity of proneness to FC. In a significant proportion of cases two FC affected sibs had unaffected parents: besides the models of inheritance so far proposed for this pathology, the involvement of two complementary dominant factors was also considered. The report includes uncommon cases: a family where one FC affected parent transmitted the same HLA haplotype to all three affected sibs; two more families, with both parents and progeny affected by FC. The HLA typing of all members of these unusual families, although not furnishing relevant information at present, may be of value to other investigators.

Key-Words

HLA antigens febrile convulsion (FC) inheritance of proneness to FC 

Sommario

È stata effettuata la tipizzazione del sistema HLA, antigeni della classe 1, in 21 famiglie in cui almeno 2 membri avevano manifestato convulsioni febbrili (CF). Sono stati esaminati un totale di 49 soggetti e 43 consanguinei di I0 grado (genitori o fratelli). Non sono risultati statisticamente più frequenti, nell’insieme dei soggetti affetti da CF, nè un singolo antigene nè un aplotipo. La ricerca comunque non consente di trarre ipotesi conclusive circa il rapporto tra CF e regione HLA, a causa della possibile eterogeneità genetica della suscettibilità alle CF stesse.

In una proporzione di casi significativa due fratelli con CF avevano genitori sani: è stata presa in considerazione, oltre i modelli di trasmissione ereditaria finora proposti per questa affezione, anche la possibile implicazione di due fattori complementari dominanti.

Tra i casi studiati alcuni appaiono non comuni: per esempio una famiglia dove un genitore con CF aveva trasmesso lo stesso aplotipo HLA ai 3 figli affetti e, ancora, 2 famiglie con entrambi i genitori e i figli affetti da CF.

La tipizzazione HLA di tutti i membri di queste famiglie atipiche, anche se non dà informazioni di rilievo nell’attualità, può essere utile per altri ricercatori.

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Copyright information

© Masson Italia Periodici 1990

Authors and Affiliations

  • Lenti C. 
    • 1
  • Gambini E. 
    • 1
  • Illeni M. T. 
    • 2
  • Ghidoni A. 
    • 3
  1. 1.Istituto di Neuropsichiatria InfantileUniversità di MilanoMilano
  2. 2.Istituto Nazionale per lo studio e la cura dei TumoriMilano
  3. 3.Dipartimento di Genetica e di Biologia dei MicrorganismiUniversità di MilanoMilano

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