Degenerative Disorders of the Central Nervous System PART 2 (Huntington's Disease-end) Flashcards
what type of disorder is Huntingtons
a progressive hereditary disorder
what is huntingtons characterized by (3)
- chorea
- personality disturbances
- dementia
what is chorea
brief, purposeless, involuntary movement
is there a cure for huntingtons
no
when does huntingtons start (generally)
mid-life
what is considered “late onset” for huntingtons
after 50 years
huntingtons is autosomal ____ transmission
dominant
huntingtons: genetic marker on chromosome #?
4
if the parent has huntingtons, what is the %chance that it will develop if a parent has it
50%
if you inherit huntingtons gene, will you develop it
yes
mechanism of huntingtons
atrophy of neurons in the striatum of the basal ganglia
what composes the striatum
caudate and putamen
caudate correlates with…
correlates with dementia
putamen correlates with…
neurological symptoms
in huntingtons, ventricles are…
enlarged
in huntingtons, brain volume is decreased by %?
20%
the direct pathway of huntingtons allows/disallows movement
allows (disinhibition)
the indirect pathway of huntingtons increases/decreases inhibition of movement
increases inhibition of movement
early huntingtons disease blocks… and is…
indirect pathway, hyperkinetic
late huntingtons disease blocks… and is…
blocks both indirect and direct pathway, hypokinetic
is chorea present with huntingtons
yes
is gaze fixation abnormalities present in huntingtons
yes
____ incontinence is present in huntingtons
urinary
are pyschiatric disorders present in huntingtons? and what ones
personality changes and depression
what imaging can be used for huntingtons
MRI/PET
what can be seen on MRI/PETs (2)
- atrophy and enlarged ventricles
2. not disease specific
for huntingtons, chorea is associated with anti____
anticonvulsant
for huntingtons, antipsychotic is associated with…
block dopamine
for huntingtons disease, how fast is the progression
slow
for huntingtons, there is a more severe onset if diagnosed before age…
40
some people with huntingtons may survive into (age?)
90s
do the people with huntingtons in the 90s have disabilities
yes
when do people diagnosed with huntingtons die after diagnosis
15-20 years
increasing disability often leads to death due to…
infection
what is also a contributing factor of huntingtons death
suicide
what is multiple sclerosis
chronic, demyelinating autoimmune disease of the CNS
what is a major cause of disability in young adults
multiple sclerosis
multiple sclerosis is named for ________ found throughout the CNS
sclerotic plaques
four types of multiple sclerosis
- Relapsing-Remitting MS (RRMS)
- Secondary Progressive MS
- Primary Progressive MS
- Progressive-Relapsing MS
what is Relapsing-Remitting MS
periods of neurologic dysfunction (greater than 24 hours)
level of recovery following Relapsing-Remitting MS
full or partial recovery
what do 50% of individuals with RRMS go on to develop
secondary progressive MS
how quick is the decline for Secondary Progressive MS
steady progressive decline
can patients with secondary progressive MS have relapses
yes
what is the decline like for Primary Progressive MS
steady decline from onset
recovery level for primary progressive MS
minimal recovery
what is the decline like for progressive-relapsing MS
progressive decline from onset with clear exacerbations
for the various types of MS, what are exacerbations/relapses
periods when symptoms are at their peak (worst)
what race and descent is most common for MS
caucasian of northern European descent
males or females more prone to MS
females
when is the onset of MS for males
later onset
is the male onset for MS less or more severe compared to females
more severe
incidence of MS rises from teens-#? then gradually declines
teens-35 years
what is noted regarding the diagnosis of MS regarding the equator
near the equator = less risk of MS
what is the actual link between sunlight and MS
less sun = less vitamin d = more MS
for MS, there is a ____ cell mediated inflammatory disorder
T Cell
what happens regarding myelin for people with MS
demyelination
what causes the demyelination for people with MS (2)
- infammatory cells
2. extracellular environment
loss of myelin causes neurons to be susceptible to…
apoptosis
the relapses in MS can be attributed to…
demyelination
for patients with MS, axon loss and cell death lead to…
long-term disability
symptoms of MS (there’s a shit ton)
- optic neuritis
- sensory changes
- fatigue
- spasticity
- weakness
- cranial nerve involvement
- ataxia
- pain
- depression
- cognitive decline (50%)
- bowel and bladder symptoms
what sign is present with MS
Lhermitte’s Sign
what is Lhermitte’s Sign
momentary electric sensation evoked by neck flexion or cough =
what is Lhermitte’s Sign indicative of
posterior column damage
to diagnose MS, what two things need to be present
- dissemination in time
2. dissemination in anatomical space
what is the dissemination in time
2 separate clinical attacks at least 1 month apart or changes in MRI over time
what is dissemination in anatomical space
damage in at least two areas of the CNS
what can be revealed in the CNS of patients with MS (2)
- oligoclonal bands
2. elevated immunoglobulins
what do disease modifying agents do for people with MS
reduce attacks by 1/3
what are three disease modifying agents for patients with MS
- interferon drugs
- immunomodulators
- immunosuppressants
what do interferon drugs do
slow immune response
what do immunomodulators do
blocks immune cells
what do immunosuppressants do
decrease T-cells
are disease modifying agents effective for primary progressive
no
do the disease modifying agents help with secondary progressive
not sure
can corticosteroids help MS patients
yes
what do corticosteroids do for people with MS
shorten duration of acute attack
people with MS average #? attacks per year
1
if untreated after 15 years, what do 50% of people use to walk
assistive device
if untreated after 20 years, what are 50% of people
wheelchair bound
does MS have an impact on life expectancy
minimal impact
what are poor prognostic indicators for MS (3)
- early motor or cerebelar symptoms
- disability after the 1st attack
- multiple attacks in the 1st year
what is the most common form of hereditary ataxia
Fredreich’s Ataxia
what type of disease is fredreich’s ataxia
autosomal recessive
what is Fredreich’s Ataxia characterized by
ascending and descending fibers of the spinal cord including the spinocerebellar tracts
when is FA manifested
5-15
____% of children of affected parents develop the disorder
25%
FA is linked to the ____ arm of chromosome #?
long arm of chromosome 9
FA disrupts normal production of…
frataxin
what does the disruption of frataxin do (2)
- certain cells can’t produce energy effectively
2. build up of toxic byproducts
most common symptom of FA
ataxic gait
in people with FA, what does staggering/lurching gait lead to
wide BOS
clinical manifestations of FA
- clumsiness/tremor
- sensory impairment
- loss of DTR
- muscle tone
- progressive weakness of limbs
- cardiomyopathy
- dysarthria
what is preserved with FA
mentation
critical requirements for diagnosis of FA (3)
- onset ataxia before 25
- progressive course
- loss of DTRs
95% of patients with FA are using wheelchairs by…
45
when do people with FA lose the ability to walk
15 years after onset
mean death age for FA
30s
when do people with FA survive to
50s and 60s
