Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Adrenomyeloneuropathy: report of a new mutation in a French Canadian female.
[adrenomyeloneuropathy]
X-
linked
adrenoleukodystrophy
is
a
peroxisomial
disorder
caused
by
mutations
in
the
ABCD
1
gene
.
Adrenomyeloneuropathy
is
the
second
most
frequent
phenotype
(
25
-
46
%
)
of
this
disease
and
classically
presents
in
adulthood
with
spastic
paraparesis
.
Female
heterozygotes
can
be
symptomatic
,
but
they
are
frequently
misdiagnosed
as
having
multiple
sclerosis
.
We
report
a
novel
missense
mutation
in
the
ABCD
1
gene
in
a
47
-
year
-old
French
-
Canadian
female
with
spastic
paraparesis
and
no
confirmed
family
history
of
X-
linked
adrenoleukodystrophy
.
The
mutation
is
located
on
exon
1
and
causes
the
amino
acid
substitution
of
a
valine
for
an
alanine
in
a
region
of
the
protein
highly
conserved
between
mouse
and
man
.
Adrenomyeloneuropathy
must
be
considered
in
the
differential
diagnosis
of
spastic
paraparesis
in
men
or
women
.
This
is
an
initial
report
of
an
ABCD
1
gene
mutation
in
the
French
-
Canadian
population
,
which
should
lead
to
the
recognition
of
other
cases
in
the
future
.
