Sindrome di Cockayne

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Sindrome di Cockayne
Malattia rara
Cod. esenz. SSNRN1400
Specialitàgenetica clinica, neurologia e dermatologia
Classificazione e risorse esterne (EN)
OMIM133540 e 216400
MeSHD003057
eMedicine942516
Eponimi
Edward Alfred Cockayne
Modifica dati su Wikidata · Manuale

La sindrome di Cockayne, nota anche come sindrome di Weber-Cockayne e sindrome di Neill-Dingwall, è una rara malattia genetica a trasmissione autosomica recessiva caratterizzata dall'anomalo sviluppo del sistema nervoso, da grave fotosensibilità e da invecchiamento precoce[1].

Deve il suo nome a Edward Alfred Cockayne che per primo la definì e a Mary Dingwall, Catherine Neill e Frederick Parkes Weber che la studiarono in seguito[2].

Patogenesi

Le cellule dell'organismo di persone affette non sono in grado di replicare correttamente per alterazioni nel meccanismo di riparazione del DNA[3] e questo porta a un invecchiamento precoce. Conseguentemente i pazienti passano rapidamente dall'infanzia alla vecchiaia, saltando di fatto adolescenza ed età adulta.

Clinica

Il bambino nasce di solito sottopeso e manifesta inizialmente una serie di ritardi nello sviluppo e nella crescita. Dopo l'anno d'età, il bambino manifesta forti tremori che ostacolano le funzioni motorie. Un altro sintomo molto comune e che si manifesta immediatamente dopo la nascita è la presenza di cataratte.

Prognosi

Gli affetti dalla malattia, spesso muoiono entro il settimo anno d'età.

Note

  1. ^ DR. Bertola, H. Cao; LM. Albano; DP. Oliveira; F. Kok; MJ. Marques-Dias; CA. Kim; RA. Hegele, Cockayne syndrome type A: novel mutations in eight typical patients., in J Hum Genet, vol. 51, n. 8, 2006, pp. 701-5, DOI:10.1007/s10038-006-0011-7, PMID 16865293.
  2. ^ (EN) Ole Daniel Enersen, Sindrome di Cockayne, in Who Named It?.
  3. ^ JH. Hoeijmakers, DNA damage, aging, and cancer., in N Engl J Med, vol. 361, n. 15, ottobre 2009, pp. 1475-85, DOI:10.1056/NEJMra0804615, PMID 19812404.

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