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Novel mutation of aspartoacylase gene in a Turkish patient with Canavan disease.
[canavan disease]
Canavan
disease
is
a
neurodegenerative
disease
with
autosomal
recessive
inheritance
.
Although
this
disease
is
prevalant
among
Ashkenazi
Jewish
population
,
several
cases
have
been
reported
from
all
over
the
world
.
Canavan
disease
is
caused
by
a
genetic
mutation
in
aspartoacylase
gene
.
We
have
identified
a
novel
mutation
,
a
homozygous
C
432
+
1
G
>
A
mutation
,
in
a
10
-
month
-old
boy
who
has
a
typical
Canavan
phenotype
(
without
macrocephaly
)
accompanied
by
typical
brain
magnetic
resonance
imaging
(
MRI
)
,
magnetic
resonance
spectroscopy
(
MRS
)
and
diffusion
magnetic
resonance
findings
.
The
patient
's
mother
was
found
to
be
heterozygous
for
this
mutation
.
We
believe
that
future
studies
of
aspartoacylase
gene
in
various
ethnic
groups
could
lead
to
a
better
understanding
of
Canavan
's
pathophysiology
and
gene
therapy
.