Below is an abstract about a rare inherited neurological disease that includes some dystonia and responds to DBS.
Only the abstract is posted on the Web. The August 13 New Yorker issue is probably still on the newsstands.
http://www.newyorker.com/reporting/2007/08/13/070813fa_fact_preston
Richard Preston, "An Error in the Code," The New Yorker, August 13, 2007, p. 30
ANNALS
OF MEDICINE about Lesch-Nyhan syndrome, a rare disease which causes
people to mutilate themselves. Writer describes a case from 1962, in
which a four-and-a-half-year-old boy named Matthew was brought to Johns
Hopkins Hospital. Matthew was spastic, and as an infant, had been
diagnosed as having cerebral palsy and developmental retardation. His
older brother was also spastic and retarded. Matthew was wearing
mittens, even though it was a warm day. William L. Nyhan, a
pediatrician and research scientist, along with a medical student named
Michael Lesch, discovered that Matthew had bitten off parts of his
fingers, and parts of his lips. They met with his older brother, who
had bitten his fingers even more severely, and had chewed off his lower
lip. Two years after meeting Matthew, Nyhan and Lesch published the
first paper describing the disease, which came to be called Lesch-Nyhan
syndrome. Boys with the disease were, and are, frequently misdiagnosed
as having cerebral palsy. (Girls virtually never get it.) In 1971,
Nyhan coined the term “behavioral phenotype” to describe diseases like
Lesch-Nyhan, in which someone displays a pattern of characteristic
actions that can be linked to genetic code. Describes the progression
of a person with Lesch-Nyhan. He will scream in terror and pain during
bouts of self-mutilation. In the past, many Lesch-Nyhan patients died
in childhood or their teens, from kidney failure. Nowadays, they may
live into their thirties and forties. Describes the DNA and genetic
mutation of those with Lesch-Nyhan. In 1999, the writer met James Elrod
and Jim Murphy, two men living with Lesch-Nyhan. (Murphy died in 2004;
Elrod, who is now forty-nine, is one of the oldest living people with
Lesch-Nyhan.) Jim Murphy explains to the writer what the disease is
like. “You try to tick everybody off, and then you feel bad when you do
it.” In 2000, a neurosurgeon in Tokyo performed a procedure called
deep-brain stimulation on a Lesch-Nyhan patient. Deep-brain
stimulation, developed for treating people with Parkinson’s, involves
implanting wires in the brain and batteries in the chest, to send a
faint, pulsed current of electricity through the patient. After the
surgery, the boy’s dystonic movements disappeared, and several months
later, he had stopped biting himself. Discusses other attempts to find
a cure for the disease. Scientists aren’t sure why deep-brain
stimulation seems to work in some patients, or if it can help others;
the results are a reminder of how obscure the workings of the brain
still are. Writer describes an incident in which he got stuck in mud
while driving off-road with Elrod and Murphy.
The New Yorker’s archives are not yet fully available online. Many New Yorker stories published since December, 2000, are available through Nexis. Individual back issues may be purchased from our customer-service department at 1-800-825-2510.
Herschel Kanter
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