Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
[Long term clinical course of Canavan disease--a rare Japanese case].
[canavan disease]
Canavan
disease
(
CD
)
,
which
is
a
rare
disease
in
Japan
,
is
an
autosomal-recessive
neurodegenerative
disorder
caused
by
mutations
in
aspartoacylase
,
an
enzyme
that
deacetylates
N-
acetylaspartate
to
generate
free
acetate
in
the
brain
.
CD
affected
children
usually
die
by
the
age
of
10
years
.
Here
we
report
a
long
term
clinical
course
of
a
21
-
year
-old
Japanese
woman
who
was
diagnosed
as
CD
at
the
age
4
.
This
patient
is
the
only
reported
case
of
CD
in
Japan
that
has
been
biochemically
confirmed
.
Although
this
patient
is
currently
bed-ridden
with
spastic
quadriplegia
and
severe
mental
retardation
,
her
general
condition
is
quite
stable
.
This
patient
showed
a
milder
clinical
course
compared
to
the
majority
of
CD
patients
.
Because
this
is
the
only
reported
case
of
CD
in
Japan
,
we
hypothesize
that
there
might
be
an
ethnic
phenotypic
polymorphism
in
CD
.