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Cockayne's syndrome

Cockayne’s syndrome, sometimes called Cockayne syndrome, is a genetic disease that results from an inability to repair damage to DNA. It is likely an autosomal recessive gene that affects about one in every 100,000 live births. It is named for Edward Alfred Cockayne, a physician who studied genetic diseases in children. Cockayne’s syndrome is linked to abnormality in two genes that code for the generation of proteins involved in nucleotide excision repair. more...

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Forms of Cockayne’s syndrome

  • CS Type I, or the “classic form”, is characterized by normal fetal growth with the onset of abnormalities in the first two years of life. Impairment of vision, hearing, and the central and peripheral nervous system progressively degenerate until death in the first or second decade of life.
  • CS Type II, otherwise known as connatal CS, involves very little neurological development after birth. Death usually occurs by age 7.
  • CS Type III is rare and is characterized by late onset. It is milder than Type I and Type II.
  • Xeroderma-pigmentiosum-Cockayne syndrome (XP-CS) occurs when an individual also suffers from Xeroderma pigmentosum, another DNA repair disease. Some symptoms of each disease are expressed.

Symptoms

  • Dwarfism
  • Neurological impairments and delays in development
  • Facial deformities
  • Sensorinural deafness
  • Abnormal sensitivity to UV radiation

Read more at Wikipedia.org


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The Moor's Last Sigh. - book reviews
From Commonweal, 2/9/96 by Sara Maitland

Salman Rushdie is--and I think this can be said fairly uncontroversially--one of the most important English-language novelists currently writing. He has mythologized all our lives, and done so in the arena of multiculturalism and postmodernism. This is a remarkable achievement; and of course cannot be separated, in some important respects, from his own social boundary transgressions--he is the product of both a divided India and the British Public School system: Gandhi and Tom Brown's School Days; of Islam and the Booker Prize. Autobiography however is not the whole story--Rushdie has an extraordinarily bold imagination, in relation to both subject matter and plot and to language--as a nonrealist novelist myself I cannot but envy and admire the high-handed courage of his fiction.

It is therefore particularly tragic that it will probably never again be possible to read his fiction without thinking of his life: of the fatwa, of the international cause celebre, of the fear, and of the years of isolation and abnormality. I do not want to suggest that all of this would not have mattered so much if he had been a lesser writer--terror is terror; but we, as much as Rushdie himself, may turn out to be losers here.

The Moor's Last Sigh is Rushdie's first major work since The Satanic Verses was published in 1988. (I do not discount Haroun and the Sea of Stories, which was charming, and the collection of stories East West, which was odd--I just do not think they were "major." I wanted to read it, indeed I disciplined myself to read it, with the same literary and emotional enthusiasm as I had brought to Midnight's Children or The Satanic Verses. I found, to my regret, that this was not possible. Some of this, frankly, was my own fault--I could not suppress a curiosity as to whether Jews would find themselves gravely offended at being re-stereotyped as the power behind an international criminal empire; or if right-wing Hindu nationalist parties were going to rise up howling with wrath and demanding blood for his satirical portrayal of them. (He is, let's face it, wonderfully widesweeping in his abusiveness.

But some of it is Rushdie's "fault." How can he begin a novel, under all the prevailing circumstances, with the following sentence:

I have lost count of the days that

have passed since I fled the horror

of Vasco Miranda's mad

fortress in the Andalusian mountain-village

of Benengeli; ran from

death under cover of darkness

and left a message nailed to the

door.

and not expect a certain gossipy and distracting curiosity to rise up in the reader's mind? How can he choose a protagonist who is constantly being 'imprisoned" and isolated by malevolent fates--starting from birth (genetics) with a unique physical deformity (a body that grows, and therefore ages, twice as fast as anyone else's--there is, by the way, such an illness; it is called Cockayne's syndrome) and continuing through family history, politics, passion, and art--all the world is out to get the Moor--and not expect his readers to draw some parallels? How can he take that old standby of romantic fiction, The Family Saga; give it exotic locations; start it with not one but two family weddings in 1900; and end both the novel and the family with a terrified man escaping prison to die--and not have his readers wonder if they are being given a rather monomaniacal view of the author's century?

What else is the poor author to do? All fiction has to come out of the interior autobiography of the writer, and this is particularly so with Rushdie's brand of magical realism. Perhaps, driven by real and exterior events, he is here attempting a brave act of satire, an ironized and witty self-reflection. If so, he has forgotten something crucial; satire has to have a critical, a cutting edge, and self-satire even more so. The Moor's Last Sigh is a self-indulgent text.

There are some wonderful things, some real magic, in the book. Rushdie knows so many things, from so many cultures, and is so clever, both intellectually and linguistically. His driving sense of Indian history is persuasive to an outsider. His sense of place is lyrical. It is apparently not possible for him to do anything other than put together palpably gorgeous sentences and scenes. In particular the matriarchs are a splendidly eccentric and complex group of women: the hero's mother, an artist, has a precision, combining the "fairy mother" and the "wicked witch"--the good mother and the bad mother both at once--that gives her a universality that is infinitely moving. But Rushdie is better at mothers than at lovers: the pivot of the plot in many ways is the particular passion the Moor develops for Uma--she, the sex, her devious complexities, and her fatal attraction are all indicated with a curious absence of conviction. This creates a hole in the plot into which the novel seems to collapse.

Too much of the witty erudition looks suspiciously like showing-off. And even more often like a cover-up, a digression from a path that was ambling nowhere anyway. It is as though having recreated India as myth in Midnight's Children and given us a profound and moving mythological narrative for the experience of itinerancy, of immigrant-ness in The Satanic Verses, Rushdie now needed to mythologize himself: to find a huge narrative to inflate what must, necessarily, have been a lonely, scary, and miserable experience.

You see. I have done what I did not want to do--I have written more about Rushdie than about the Moor. Perhaps, of course, this is my problem, not his; but I do not think so--I think it is both a historical inevitability and, more interestingly both the fault, and the essence, of the book: it is hard to write about the book--the plot is very complex and its significance is rather slight.

But, ah, he can still write. It is there. I think we must rejoice that The Moor's Last Sigh is written: it was never going to be an easy book for Rushdie. Now it is done. Obviously he is still there, the writer I mean and has not been driven into meekness--a little self-grandiloquence, for a writer of this kind, is a great deal better than the opposite. I would wish him well if that were not quite so matronizing.

Sara Maitland's most recent novel, Ancestral Truths, is published by Henry Holt. In 1990, with Lisa Appignanesi, she edited The Rushdie File (Syracuse University Press).

COPYRIGHT 1996 Commonweal Foundation
COPYRIGHT 2004 Gale Group

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