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GM1-gangliosidosis in American black bears: clinical, pathological, biochemical and molecular genetic characterization.
[gm1 gangliosidosis]
G
(
M
1
)
-
gangliosidosis
is
a
rare
progressive
neurodegenerative
disorder
due
to
an
autosomal
recessively
inherited
deficiency
of
lysosomal
β-galactosidase
.
We
have
identified
seven
American
black
bears
(
Ursus
americanus
)
found
in
the
Northeast
United
States
suffering
from
G
(
M
1
)
-
gangliosidosis
.
This
report
describes
the
clinical
features
,
brain
MRI
,
and
morphologic
,
biochemical
and
molecular
genetic
findings
in
the
affected
bears
.
Brain
lipids
were
compared
with
those
in
the
brain
of
a
G
(
M
1
)
-
mouse
.
The
bears
presented
at
ages
10
-
14
months
in
poor
clinical
condition
,
lethargic
,
tremulous
and
ataxic
.
They
continued
to
decline
and
were
humanely
euthanized
.
The
T
(
2
)
-
weighted
MR
images
of
the
brain
of
one
bear
disclosed
white
matter
hyperintensity
.
Morphological
studies
of
the
brain
from
five
of
the
bears
revealed
enlarged
neurons
with
foamy
cytoplasm
containing
granules
.
Axonal
spheroids
were
present
in
white
matter
.
Electron
microscopic
examination
revealed
lamellated
membrane
structures
within
neurons
.
Cytoplasmic
vacuoles
were
found
in
the
liver
,
kidneys
and
chondrocytes
and
foamy
macrophages
within
the
lungs
.
Acid
β-galactosidase
activity
in
cultured
skin
fibroblasts
was
only
1
-
2
%
of
control
values
.
In
the
brain
,
ganglioside-bound
sialic
acid
was
increased
more
than
2
-
fold
with
G
(
M
1
)
-
ganglioside
predominating
.
G
(
A
1
)
content
was
also
increased
whereas
cerebrosides
and
sulfatides
were
markedly
decreased
.
The
distribution
of
gangliosides
was
similar
to
that
in
the
G
(
M
1
)
-
mouse
brain
,
but
the
loss
of
myelin
lipids
was
greater
in
the
brain
of
the
affected
bear
than
in
the
brain
of
the
G
(
M
1
)
mouse
.
Isolated
full-length
cDNA
of
the
black
bear
GLB
1
gene
revealed
86
%
homology
to
its
human
counterpart
in
nucleotide
sequence
and
82
%
in
amino
acid
sequence
.
GLB
1
cDNA
from
liver
tissue
of
an
affected
bear
contained
a
homozygous
recessive
T
(
1042
)
to
C
transition
inducing
a
Tyr
348
to
His
mutation
(
Y
348
H
)
within
a
highly
conserved
region
of
the
GLB
1
gene
.
The
coincidence
of
several
black
bears
with
G
(
M
1
)
-
gangliosidosis
in
the
same
geographic
area
suggests
increased
frequency
of
a
founder
mutation
in
this
animal
population
.
Diseases
Validation
Diseases presenting
"skin fibroblasts"
symptom
child syndrome
cowden syndrome
cystinuria
dentinogenesis imperfecta
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
gm1 gangliosidosis
homocystinuria without methylmalonic aciduria
krabbe disease
malignant atrophic papulosis
monosomy 21
neonatal adrenoleukodystrophy
pyruvate dehydrogenase deficiency
werner syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
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