Biomedicines,
Год журнала:
2022,
Номер
10(4), С. 760 - 760
Опубликована: Март 24, 2022
Nowadays,
there
is
a
need
for
reliable
fluid
biomarkers
to
improve
differential
diagnosis,
prognosis,
and
the
prediction
of
treatment
response,
particularly
in
management
neurogenerative
diseases
that
display
an
extreme
variability
clinical
phenotypes.
In
recent
years,
Tau
protein
has
been
progressively
recognized
as
valuable
neuronal
biomarker
several
neurological
conditions,
not
only
Alzheimer’s
disease
(AD).
Cerebrospinal
serum
have
extensively
investigated
neurodegenerative
disorders,
from
classically
defined
proteinopathy,
e.g.,
amyotrophic
lateral
sclerosis
(ALS),
frontotemporal
dementia
(FTD),
Parkinson’s
(PD),
but
also
inflammatory
conditions
such
multiple
(MS),
marker
axonal
damage.
MS,
total
(t-Tau)
may
represent,
along
with
other
proteins,
diagnostic
prognostic
value.
ALS,
t-Tau
and,
mainly,
phosphorylated-Tau/t-Tau
ratio
alone
or
integrated
transactive
DNA
binding
~43
kDa
(TDP-43),
represent
tool
both
diagnosis
motoneuron
tauopathies.
Evidence
indicated
crucial
role
pathogenesis
PD
parkinsonian
disorders.
This
narrative
review
summarizes
current
knowledge
regarding
non-AD
protein.
International Journal of Molecular Sciences,
Год журнала:
2023,
Номер
24(14), С. 11732 - 11732
Опубликована: Июль 21, 2023
Frontotemporal
dementia
(FTD)
is
a
neurodegenerative
disease
of
growing
interest,
since
it
accounts
for
up
to
10%
middle-age-onset
dementias
and
entails
social,
economic,
emotional
burden
the
patients
caregivers.
It
characterised
by
(at
least
initially)
selective
degeneration
frontal
and/or
temporal
lobe,
generally
leading
behavioural
alterations,
speech
disorders,
psychiatric
symptoms.
Despite
recent
advances,
given
its
extreme
heterogeneity,
an
overview
that
can
bring
together
all
data
currently
available
still
lacking.
Here,
we
aim
provide
state
art
on
pathogenesis
this
disease,
starting
with
established
findings
integrating
them
more
ones.
In
particular,
advances
in
genetics
field
will
be
examined,
assessing
relation
both
clinical
manifestations
histopathological
findings,
as
well
considering
link
other
diseases,
such
amyotrophic
lateral
sclerosis
(ALS).
Furthermore,
current
diagnostic
criteria
explored,
including
neuroimaging
methods,
nuclear
medicine
investigations,
biomarkers
biological
fluids.
Of
note,
promising
information
provided
neurophysiological
i.e.,
electroencephalography
non-invasive
brain
stimulation
techniques,
concerning
alterations
networks
neurotransmitter
systems
reviewed.
Finally,
experimental
therapies
considered.
Journal of Neurology,
Год журнала:
2025,
Номер
272(3)
Опубликована: Фев. 26, 2025
Abstract
This
review
explores
the
intricate
landscape
of
neurodegenerative
disease
research,
focusing
on
Amyotrophic
Lateral
Sclerosis
(ALS)
and
intersection
genetics
RNA
biology
to
investigate
causative
pathogenetic
basis
this
fatal
disease.
ALS
is
a
severe
characterized
by
progressive
loss
motor
neurons,
leading
muscle
weakness
paralysis.
Despite
significant
research
advances,
exact
cause
remains
largely
unknown.
Thanks
application
next-generation
sequencing
(NGS)
approaches,
it
was
possible
highlight
fundamental
role
rare
variants
with
large
effect
sizes
involvement
portions
non-coding
RNA,
providing
valuable
information
risk
prediction,
diagnosis,
treatment
age-related
diseases,
such
as
ALS.
Genetic
has
provided
insights
into
pathophysiology
ALS,
development
targeted
therapies
antisense
oligonucleotides
(ASOs).
Regulatory
agencies
in
several
countries
are
evaluating
commercialization
Qalsody
(Tofersen)
for
SOD1
-associated
highlighting
potential
gene-targeted
therapies.
Furthermore,
emerging
significance
microRNAs
(miRNAs)
long
RNAs
great
interest.
MiRNAs
have
emerged
promising
biomarkers
diagnosing
monitoring
progression.
Understanding
lncRNAs
pathogenesis
opens
new
avenues
therapeutic
intervention.
However,
challenges
remain
delivering
RNA-based
therapeutics
central
nervous
system.
Advances
genetic
screening
personalized
medicine
hold
promise
improving
management
Ongoing
clinical
trials
use
genomic
approaches
patient
stratification
drug
targeting.
Further
their
targets
crucial
effective
treatments
devastating
Frontiers in Cell and Developmental Biology,
Год журнала:
2022,
Номер
9
Опубликована: Фев. 14, 2022
Neurofilament
light
(NFL)
is
one
of
the
proteins
forming
multimeric
neuron-specific
intermediate
filaments,
neurofilaments,
which
fill
axonal
cytoplasm,
establish
caliber
growth,
and
provide
structural
support.
Dominant
missense
mutations
recessive
nonsense
in
neurofilament
gene
(
European Journal of Neurology,
Год журнала:
2023,
Номер
30(6), С. 1600 - 1610
Опубликована: Март 11, 2023
Abstract
Background
and
purpose
The
objective
was
to
assess
the
performance
of
serum
neurofilament
light
chain
(sNfL)
in
amyotrophic
lateral
sclerosis
(ALS)
a
wide
range
disease
courses,
terms
progression,
duration
tracheostomy
invasive
ventilation
(TIV).
Methods
A
prospective
cross‐sectional
study
at
12
ALS
centers
Germany
performed.
sNfL
concentrations
were
age
adjusted
using
Z
scores
expressing
number
standard
deviations
from
mean
control
reference
database
correlated
progression
rate
(ALS‐PR),
defined
by
decline
Functional
Rating
Scale.
Results
In
total
cohort
(
n
=
1378)
score
elevated
(3.04;
2.46–3.43;
99.88th
percentile).
There
strong
correlation
with
ALS‐PR
p
<
0.001).
patients
long
(5–10
years,
167)
or
very
(>10
94)
significantly
lower
compared
typical
<5
years
1059)
Furthermore,
TIV,
decreasing
found
TIV
0.002;
Conclusions
finding
moderate
elevation
underlined
favorable
prognosis
low
sNfL.
strengthened
its
value
as
marker
clinical
management
research.
lowering
could
reflect
reduction
either
activity
neuroaxonal
substrate
biomarker
formation
during
protracted
course
ALS.
CNS Neuroscience & Therapeutics,
Год журнала:
2024,
Номер
30(2)
Опубликована: Фев. 1, 2024
Amyotrophic
lateral
sclerosis
(ALS)
is
a
progressive
motor
and
extra-motor
neurodegenerative
disease.
This
systematic
review
aimed
to
examine
MRI
biomarkers
neuropsychological
assessments
of
the
hippocampal
parahippocampal
regions
in
patients
with
ALS.
