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Lithium citrate reduces excessive intra-cerebral N-acetyl aspartate in Canavan disease.
[canavan disease]
Our
group
has
previously
reported
the
first
clinical
application
of
lithium
in
a
child
affected
by
Canavan
disease
.
In
this
study
,
we
aimed
to
assess
the
effects
of
lithium
on
N-
acetyl
aspartate
(
NAA
)
as
well
as
other
end
points
in
a
larger
cohort
.
Six
patients
with
clinical
,
laboratory
and
genetic
confirmation
of
Canavan
disease
were
recruited
and
underwent
treatment
with
lithium
.
The
battery
of
safety
and
efficacy
testing
performed
before
and
after
sixty
days
of
treatment
included
Gross
Motor
Function
Testing
(
GMFM
)
,
Magnetic
Resonance
Imaging
(
MRI
)
Proton
Magnetic
Spectroscopy
(
H-MRS
)
as
well
as
blood
work
.
The
medication
was
safe
without
any
clinical
or
laboratory
evidence
for
toxicity
.
Parental
reports
indicated
improvement
in
alertness
and
social
interactions
.
GMFM
did
not
show
statistically
significant
improvement
in
motor
development
.
H-MRS
documented
an
overall
drop
in
NAA
which
was
statistically
significant
in
the
basal
ganglia
.
T
1
measurements
recorded
on
MRI
studies
suggested
a
mild
improvement
in
myelination
in
the
frontal
white
matter
after
treatment
.
Diffusion
Tensor
Imaging
was
available
in
two
patients
and
suggested
micro-structural
improvement
in
the
corpus
callosum
.
The
results
suggest
that
lithium
administration
may
be
beneficial
in
patients
with
Canavan
disease
.
Diseases
Validation
Diseases presenting
"first clinical application"
symptom
canavan disease
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