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American Journal of Medical Genetics 85:196 (1999)
Book Review
Edited by R.D. Wells and S.T. Warren
Academic Press, New York, 1998, 829 p.
Ten years ago, at the start of the decade of the brain,
this text was unthinkable. Triplet repeat disorders had
not been recognized in the way they are today, yet the
end of this decade would be unthinkable without this
text. This is testimony to the book itself, and the text
has the making of a classic, a landmark book that is a
crucial addition to any serious neurology or genetics
library bookshelf. Wells and Warren have compiled an
excellent overview of genetic instabilities, and most
chapters are written by renowned figures in the field.
I read this book in one night because it was so gripping, but this method is not recommended for the casual reader. The place to start is with the excellent
overview of dynamic mutations and their characteristics in Chapter 1, and every medical student and older
physician wondering about the nature of a triplet expansion could come to understand dynamic mutations
in an easy 12 pages. This is the delight of this book: it
comprises 50 chapters but is so concise and short that
the reader’s interest is maintained and one is left hungry for more in the next chapter.
The text proper opens with good clinical and molecular genetic chapters on Fragile X type A and other fragile sites, followed by a pertinent description of mouse
models. I learned a great deal about macro-orchid mice
and useful applications of such models. This pattern is
followed by the two best sections of the book—a classic
description of Kennedy disease by Zajac and MacLean,
unrivaled by any other text, and a chapter on myotonic
dystrophy by Harper, which is vintage Harper at his
best—readable, enjoyable, and full of enthusiasm. It is
amazingly concise for an overview of three decades’
work. Harper dares us not to adopt an uncritical acceptance of genetic dogma, which can be very wrong, and
illustrates this by the example of anticipation recognised and ignored for so long and other examples of
“anticipation” that undoubtedly will not be proved to be
what they are claimed to be today. I also liked the
summary of the goat model of myotonic dystrophy,
which left space for a nice follow-up chapter by Monckton et al. on murine models.
Dentatorubropallidoluysian atrophy (DRPLA) is well
covered in three chapters, including a complete chapter
on Haw River syndrome for the enthusiast. SCA 1, 2, 3,
and 7 are described in detail, but there was a noticeable
lack of coverage of SCA 6—surely an oversight for a
book of this caliber. Were ion channels too complex for
the authors to tackle, or could no writer be found? This
represents one omission that needs to be speedily corrected for the second edition. SCA 4 and 5 are also not
mentioned in more than a few lines, although the genes
for these two ataxias have not yet been cloned. The
© 1999 Wiley-Liss, Inc.
chapters on Huntington disease are well written but
need updating, especially with recent work on intranuclear inclusions. The section finishes with a chapter
on Friedreich ataxia by Koenig; the next section picks
up with a chapter on anticipation and psychiatric disorders.
There is a good chapter on anticipation in neurological and other disorders, which gives a brief overview. I
felt that the single paragraph on familial Parkinson’s
disease is too brief—parkinsonism in this sort of text
needs a complete chapter devoted to it. There follow 17
detailed chapters covering approaches to the detection
of unstable repeat loci, including Repeat Expansion Detection (RED) technology, and parallel chapters for
their study in yeast and E. coli. Various conformations
and possible structural configurations of repeat diseases with selected studies on fragile X type A, myotonic dystrophy, Huntington disease, and Friedreich
ataxia are covered concisely, yet thoroughly in five
chapters. These chapters are heavy-going in places but
nevertheless contain excellent discussions of mechanisms of DNA replication and repair.
To finish up, there is one chapter about progressive
myoclonus epilepsy that provides a good, up-to-date
overview of this disease. This should be the basis for a
new section concerning more unstable epilepsy disorders in the second edition. Then there is a chapter on
mismatch repair genes and cancer, which sits slightly
out of place in their neurological text but nontheless
gives an excellent overview of this area. The concluding
chapter consists of two pages of unanswered questions,
presumably the starting point for the second edition.
Genetic Instabilities has several faults. Good summaries of such rare conditions as DRPLA, Haw River syndrome, and yeast models contrast with a paucity of
material on the more common spinocerebellar ataxias.
Typing errors are inevitably present, including a large
terminal deletion of the references in Harper’s chapter
on myotonic dystrophy. The content of the chapters
overlaps too much—a thorough pruning, combined
with suitable expansion of the neglected areas, should
ensure the permanent survival of this new species. The
index could be much more comprehensive.
With SCAs alone now into double figures with the
publication of SCA10, this book should become a paradigm of its subject matter—a text that expands its coverage over generations with repeated editions and, like
anticipation, becomes an established phenomenon in
Patrick J. Morrison
Northern Ireland Regional Medical Genetics Centre
Belfast City Hospital Trust
Belfast, United Kingdom
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