Rare Diseases Symptoms Automatic Extraction
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A random Abstract
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A mutation of aspartoacylase gene in a Turkish patient with Canavan disease.
[canavan disease]
Canavan
disease
(
CD
)
is
an
autosomal
recessive
inherited
disorder
characterized
by
spongy
degeneration
of
the
brain
.
The
deficiency
of
aspartoacylase
(
ASPA
)
,
resulting
in
the
accumulation
of
N-
acetyl
aspartic
acid
(
NAA
)
in
the
brain
,
plays
an
important
role
in
the
pathogenesis
of
the
disease
.
The
cardinal
features
of
this
neurodegenerative
disease
are
macrocephaly
,
mental
retardation
,
and
hypotonia
.
Magnetic
resonance
imaging
(
MRI
)
of
the
brain
generally
shows
diffuse
white
matter
degeneration
and
also
elevated
excretion
of
urinary
NAA
is
usually
seen
.
A
large
number
of
mutations
were
identified
to
date
.
We
report
here
a
9
months
old
girl
with
Canavan
Disease
and
a
homozygous
c
.
79
G
>
A
mutation
in
the
ASPA
gene
,
detected
for
the
first
time
in
Turkish
population
.
