Degenerative Disorders of the Central Nervous System PART 2 (Huntington's Disease-end) Flashcards
(100 cards)
1
Q
what type of disorder is Huntingtons
A
a progressive hereditary disorder
2
Q
what is huntingtons characterized by (3)
A
- chorea
- personality disturbances
- dementia
3
Q
what is chorea
A
brief, purposeless, involuntary movement
4
Q
is there a cure for huntingtons
A
no
5
Q
when does huntingtons start (generally)
A
mid-life
6
Q
what is considered “late onset” for huntingtons
A
after 50 years
7
Q
huntingtons is autosomal ____ transmission
A
dominant
8
Q
huntingtons: genetic marker on chromosome #?
A
4
9
Q
if the parent has huntingtons, what is the %chance that it will develop if a parent has it
A
50%
10
Q
if you inherit huntingtons gene, will you develop it
A
yes
11
Q
mechanism of huntingtons
A
atrophy of neurons in the striatum of the basal ganglia
12
Q
what composes the striatum
A
caudate and putamen
13
Q
caudate correlates with…
A
correlates with dementia
14
Q
putamen correlates with…
A
neurological symptoms
15
Q
in huntingtons, ventricles are…
A
enlarged
16
Q
in huntingtons, brain volume is decreased by %?
A
20%
17
Q
the direct pathway of huntingtons allows/disallows movement
A
allows (disinhibition)
18
Q
the indirect pathway of huntingtons increases/decreases inhibition of movement
A
increases inhibition of movement
19
Q
early huntingtons disease blocks… and is…
A
indirect pathway, hyperkinetic
20
Q
late huntingtons disease blocks… and is…
A
blocks both indirect and direct pathway, hypokinetic
21
Q
is chorea present with huntingtons
A
yes
22
Q
is gaze fixation abnormalities present in huntingtons
A
yes
23
Q
____ incontinence is present in huntingtons
A
urinary
24
Q
are pyschiatric disorders present in huntingtons? and what ones
A
personality changes and depression
25
what imaging can be used for huntingtons
MRI/PET
26
what can be seen on MRI/PETs (2)
1. atrophy and enlarged ventricles
| 2. not disease specific
27
for huntingtons, chorea is associated with anti____
anticonvulsant
28
for huntingtons, antipsychotic is associated with...
block dopamine
29
for huntingtons disease, how fast is the progression
slow
30
for huntingtons, there is a more severe onset if diagnosed before age...
40
31
some people with huntingtons may survive into (age?)
90s
32
do the people with huntingtons in the 90s have disabilities
yes
33
when do people diagnosed with huntingtons die after diagnosis
15-20 years
34
increasing disability often leads to death due to...
infection
35
what is also a contributing factor of huntingtons death
suicide
36
what is multiple sclerosis
chronic, demyelinating autoimmune disease of the CNS
37
what is a major cause of disability in young adults
multiple sclerosis
38
multiple sclerosis is named for ________ found throughout the CNS
sclerotic plaques
39
four types of multiple sclerosis
1. Relapsing-Remitting MS (RRMS)
2. Secondary Progressive MS
3. Primary Progressive MS
4. Progressive-Relapsing MS
40
what is Relapsing-Remitting MS
periods of neurologic dysfunction (greater than 24 hours)
41
level of recovery following Relapsing-Remitting MS
full or partial recovery
42
what do 50% of individuals with RRMS go on to develop
secondary progressive MS
43
how quick is the decline for Secondary Progressive MS
steady progressive decline
44
can patients with secondary progressive MS have relapses
yes
45
what is the decline like for Primary Progressive MS
steady decline from onset
46
recovery level for primary progressive MS
minimal recovery
47
what is the decline like for progressive-relapsing MS
progressive decline from onset with clear exacerbations
48
for the various types of MS, what are exacerbations/relapses
periods when symptoms are at their peak (worst)
49
what race and descent is most common for MS
caucasian of northern European descent
50
males or females more prone to MS
females
51
when is the onset of MS for males
later onset
52
is the male onset for MS less or more severe compared to females
more severe
53
incidence of MS rises from teens-#? then gradually declines
teens-35 years
54
what is noted regarding the diagnosis of MS regarding the equator
near the equator = less risk of MS
55
what is the actual link between sunlight and MS
less sun = less vitamin d = more MS
56
for MS, there is a ____ cell mediated inflammatory disorder
T Cell
57
what happens regarding myelin for people with MS
demyelination
58
what causes the demyelination for people with MS (2)
1. infammatory cells
| 2. extracellular environment
59
loss of myelin causes neurons to be susceptible to...
apoptosis
60
the relapses in MS can be attributed to...
demyelination
61
for patients with MS, axon loss and cell death lead to...
long-term disability
62
symptoms of MS (there's a shit ton)
1. optic neuritis
2. sensory changes
3. fatigue
4. spasticity
5. weakness
6. cranial nerve involvement
7. ataxia
8. pain
9. depression
10. cognitive decline (50%)
11. bowel and bladder symptoms
63
what sign is present with MS
Lhermitte's Sign
64
what is Lhermitte's Sign
momentary electric sensation evoked by neck flexion or cough =
65
what is Lhermitte's Sign indicative of
posterior column damage
66
to diagnose MS, what two things need to be present
1. dissemination in time
| 2. dissemination in anatomical space
67
what is the dissemination in time
2 separate clinical attacks at least 1 month apart or changes in MRI over time
68
what is dissemination in anatomical space
damage in at least two areas of the CNS
69
what can be revealed in the CNS of patients with MS (2)
1. oligoclonal bands
| 2. elevated immunoglobulins
70
what do disease modifying agents do for people with MS
reduce attacks by 1/3
71
what are three disease modifying agents for patients with MS
1. interferon drugs
2. immunomodulators
3. immunosuppressants
72
what do interferon drugs do
slow immune response
73
what do immunomodulators do
blocks immune cells
74
what do immunosuppressants do
decrease T-cells
75
are disease modifying agents effective for primary progressive
no
76
do the disease modifying agents help with secondary progressive
not sure
77
can corticosteroids help MS patients
yes
78
what do corticosteroids do for people with MS
shorten duration of acute attack
79
people with MS average #? attacks per year
1
80
if untreated after 15 years, what do 50% of people use to walk
assistive device
81
if untreated after 20 years, what are 50% of people
wheelchair bound
82
does MS have an impact on life expectancy
minimal impact
83
what are poor prognostic indicators for MS (3)
1. early motor or cerebelar symptoms
2. disability after the 1st attack
3. multiple attacks in the 1st year
84
what is the most common form of hereditary ataxia
Fredreich's Ataxia
85
what type of disease is fredreich's ataxia
autosomal recessive
86
what is Fredreich's Ataxia characterized by
ascending and descending fibers of the spinal cord including the spinocerebellar tracts
87
when is FA manifested
5-15
88
____% of children of affected parents develop the disorder
25%
89
FA is linked to the ____ arm of chromosome #?
long arm of chromosome 9
90
FA disrupts normal production of...
frataxin
91
what does the disruption of frataxin do (2)
1. certain cells can't produce energy effectively
| 2. build up of toxic byproducts
92
most common symptom of FA
ataxic gait
93
in people with FA, what does staggering/lurching gait lead to
wide BOS
94
clinical manifestations of FA
1. clumsiness/tremor
2. sensory impairment
3. loss of DTR
4. muscle tone
5. progressive weakness of limbs
6. cardiomyopathy
7. dysarthria
95
what is preserved with FA
mentation
96
critical requirements for diagnosis of FA (3)
1. onset ataxia before 25
2. progressive course
3. loss of DTRs
97
95% of patients with FA are using wheelchairs by...
45
98
when do people with FA lose the ability to walk
15 years after onset
99
mean death age for FA
30s
100
when do people with FA survive to
50s and 60s
