192 | APRIL 2011 | VOLUME 7 www.nature.com/nrneurol
NEWS & VIEWS
systems need to be tailored to local circum-
stances, and additional data are required
to establish their effectiveness, but the call
for their establishment should be heeded—
prevention of stroke is always preferable to
dealing with its consequences.
Duke Stroke Center, Duke University Medical
Center, Box 3651, Bryan Research Building,
Research Drive, Durham, NC 27710, USA.
golds004@mc.duke.edu
Competing interests
The author declares no competing interests.
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NEURODEGENERATIVE DISEASE
Tracking disease progress
in Huntington disease
Roger A. Barker and Sarah L. Mason
One of the main challenges associated with late-onset genetic
neurodegenerative diseases is predicting when the condition begins and
how it progresses over time. In a new study, Tabrizi et al. have used a
range of imaging, clinical and neuropsychiatric measures to assess the
progression of Huntington disease.
Barker, R. A. & Mason, S. L. Nat. Rev. Neurol. 7, 192–193 (2011); published online 15 March 2011;
doi:10.1038/nrneurol.2011.37
Huntington disease (HD) is a rare autosomal
dominant disorder that results from abnor-
mal CAG expansion in exon 1 of the HTT
gene, which encodes huntingtin protein.
1
The resultant mutant protein accumulates
in neurons and causes neuronal dysfunction
and, ultimately, death. Patients with clini-
cally manifest HD typically experience
abnormal movements, cognitive deficits
and psychiatric disturbances.
2
Other clini-
cal features associated with HD include
endocrine, sleep
3
and metabolic
4
abnormali-
ties. The ability to predict when a patient
with the mutant HTT gene will develop
the disease represents one of the greatest
challenges in the HD field. At present,
the examining physician determines HD
onset when a patient presents with motor
abnormalities in keeping with the disorder.
Clearly, documenting manifest HD in this
way represents a very crude estimation of
disease onset. Subtle motor
5
and nonmotor
features
6
of HD may be present before the
characteristic motor abnormalities are
evident, and these less-obvious features may
be preceded or accompanied by changes in
CNS structure and function.
7
To address this
issue, Tabrizi and colleagues have examined
disease progression in 230 patients with
either premanifest HD or early HD.
8
In their prospective, observational
study, known as TRACK-HD, Tabrizi et al.
recruited carriers of the mutant HTT gene
(116 patients with premanifest HD and 114
patients with early HD) from four study sites
in Canada, France, The Netherlands and
the UK, and assessed disease progression
in these patients using 3T MRI and clinical,
cognitive, motor, oculomotor and neuro-
psychiatric tests. The researchers reported
that over a 12-month period, changes in
brain atrophy, cognition and measures of
motor function occurred in cases of both
premanifest HD and early HD. In particular,
the study showed that annualized rates of
whole-brain, caudate and putamen atrophy
were greater in patients with premanifest or
early HD than in controls. Performance on
the circle tracing task (a measure of visuo-
motor integration and motor planning);
a quantitative motor grasping and lifting
task, and a change in the chorea position
index (a quantitative measure of involun-
tary choreiform movements), were worse
in patients with premanifest or early HD
than in controls. By contrast, deficits in
executive functioning (Stroop and symbol
digit modalities tests), psychomotor speed
(speeded tapping test), negative emotion
recognition, smell recognition (University
of Pennsylvania Smell Identification Test)
and functional health and well-being (self-
reported measures of functional capac-
ity [short form 36]) were only evident in
patients with early HD compared with con-
trols. Deficits in total functional capacity
but not total motor score correlated with
whole-brain and caudate atrophy and ven-
tricular expansion. These findings indicate
that novel disease-modifying therapies for
HD might, for the first time, be amenable
to investigation in cohorts of similar size to
those in the TRACK-HD study.
The Tabrizi et al. study is the first to sys-
tematically evaluate the utility of a range of
biomarkers in a large cohort of patients with
HD, and paves the way for clinical trials
of HD therapies, as we now have the means
to accurately track the progression of this
disease. The ability to assess HD progres-
sion in patients with premanifest HD as well
as in patients with manifest HD is impor-
tant because the rate of disease progression
may change during the disease process.
Data from the Tabrizi et al. study support
such a scenario, as the rate of atrophy (both
‘‘
…rates of whole-brain,
caudate and putamen atrophy
were greater in patients with
premanifest or early HD…
’’
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