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White matter abnormalities in 22q11.2 deletion syndrome: preliminary associations with the Nogo-66 receptor gene and symptoms of psychosis.
[22q11.2 deletion syndrome]
This
study
utilized
diffusion
tensor
imaging
(
DTI
)
to
analyze
white
matter
tractography
in
the
anterior
limb
of
the
internal
capsule
(
ALIC
)
,
fornix
,
and
uncinate
fasciculus
(
UF
)
of
individuals
with
22
q
11
.
2
deletion
syndrome
and
controls
.
Aberrations
in
these
tracts
have
been
previously
associated
with
schizophrenia
.
With
up
to
25
%
of
individuals
with
22
q
11
.
2
DS
developing
schizophrenia
in
adulthood
,
we
hypothesized
reduction
in
structural
integrity
of
these
tracts
,
including
an
association
with
prodromal
symptoms
of
psychosis
.
We
further
predicted
an
association
between
allelic
variation
in
a
functional
polymorphism
of
the
Nogo-
66
receptor
gene
and
22
q
11
.
2
DS
white
matter
integrity
.
Tractography
was
conducted
using
fiber
assignment
by
streamline
tracking
algorithm
in
DTI
Studio
.
Subjects
were
genotyped
for
the
rs
701428
SNP
of
the
Nogo-
66
receptor
gene
,
and
assessed
for
presence
of
prodromal
symptoms
.
We
found
significant
group
differences
between
22
q
11
.
2
DS
and
controls
in
DTI
metrics
for
all
three
tracts
.
DTI
metrics
of
ALIC
and
UF
were
associated
with
prodromal
symptoms
in
22
q
11
.
2
DS
.
Further
,
ALIC
DTI
metrics
were
associated
with
allelic
variation
of
the
rs
701428
SNP
of
the
Nogo-
66
receptor
gene
in
22
q
11
.
2
DS
.
Alterations
in
DTI
metrics
suggest
white
matter
microstructural
anomalies
of
the
ALIC
,
fornix
,
and
UF
in
22
q
11
.
2
DS
.
Structural
differences
in
ALIC
appear
to
be
associated
with
the
Nogo-
66
receptor
gene
,
which
has
been
linked
to
myelin-mediated
axonal
growth
inhibition
.
Moreover
,
the
association
between
psychosis
symptoms
and
ALIC
and
UF
metrics
suggests
that
the
Nogo-
66
receptor
gene
may
represent
a
susceptibility
gene
for
psychosis
through
its
disruption
of
white
matter
microstructure
and
myelin-associated
axonal
growth
.
Diseases
Validation
Diseases presenting
"white matter integrity"
symptom
22q11.2 deletion syndrome
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