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Peroxisomal disorders: genotype, phenotype, major neuropathologic lesions, and pathogenesis.
[neonatal adrenoleukodystrophy]
Neurological
dysfunction
is
a
prominent
feature
of
most
peroxisomal
disorders
.
Enormous
progress
in
defining
their
gene
defects
has
been
achieved
.
The
genes
and
gene
products
,
peroxins
(
PEX
)
,
in
five
of
the
complementation
groups
have
been
defined
.
These
studies
confirm
that
Zellweger
syndrome
(
ZS
)
,
neonatal
adrenoleukodystrophy
(
NALD
)
,
and
infantile
Refsum
disease
(
IRD
)
are
a
disease
continuum
.
The
gene
defect
in
adreno-
leukodystrophy
(
ALD
)
/
adrenomyeloneuropathy
(
AMN
)
involves
an
integral
peroxisomal
membrane
protein
.
Neuropathologic
lesions
are
of
three
major
classes
:
(
i
)
abnormalities
in
neuronal
migration
or
differentiation
,
(
ii
)
defects
in
the
formation
or
maintenance
of
central
white
matter
,
and
(
iii
)
postdevelopmental
neuronal
degenerations
.
The
central
white
matter
lesions
are
those
of
:
(
i
)
inflammatory
demyelination
,
(
ii
)
non-
inflammatory
dysmyelination
,
and
(
iii
)
non-
specific
reductions
in
myelin
volume
or
staining
with
or
without
reactive
astrocytosis
.
The
neuronal
degenerations
are
of
two
major
types
:
(
i
)
the
axonopathy
of
AMN
involving
ascending
and
descending
tracts
of
the
spinal
cord
,
and
(
ii
)
cerebellar
atrophy
in
rhizomelic
chondrodysplasia
punctata
and
probably
IRD
.
We
postulate
that
the
abnormal
fatty
acids
in
peroxisomal
disorders
,
particularly
very
long
chain
fatty
acids
and
phytanic
acid
,
are
incorporated
into
cell
membranes
and
perturb
their
microenvironments
resulting
in
dysfunction
,
atrophy
and
death
of
vulnerable
cells
.
The
advent
of
mouse
models
for
ZS
and
ALD
is
anticipated
to
provide
even
greater
pathogenetic
insights
into
the
peroxisomal
disorders
.
Diseases
Validation
Diseases presenting
"prominent feature"
symptom
aniridia
cutaneous mastocytosis
neonatal adrenoleukodystrophy
oculocutaneous albinism
werner syndrome
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