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Clinical & Neuropsychology 2 > NP: Lecture 12 Motor Disorders II > Flashcards

NP: Lecture 12 Motor Disorders II Flashcards

1
Q

eerste case van huntington

A

First described by practitioner George Huntington in 1872, he
described in detail the clinical picture of this
disease in a number of families who had
probably fled Europe because of the stigma
(and persecution) resulting from the idea that
they were ‘possessed’.
It was clearly a disease with dramatic symptoms
and a genetic basis (Gregor Mendel, 1865).

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2
Q

huntington kenmerken

A

progressive neurodegenerative disease
autosomal dominant inheritance
too many CAG repeats on chromosome 4

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3
Q

hoeveel repeats per severity

A
  • mild: 36 < CAG > 39
  • severe: CAG > 40
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4
Q

incidence hd

A

60 cases per year nl

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5
Q

onset hd

A

between 30-40

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6
Q

kijken naar plaatje dna bij huntington

A

oke

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7
Q

Since 1993 it is possible to determine with a DNA
test whether someone is a mutation carrier, even
before the first symptoms of the disease appear.

A

oke

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8
Q

waar is degeneration bij hd

A

in basal ganglia, vooral striatum (caudate nucleus and putamen)

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9
Q

waar leidt deze degeneratie toe

A

interruption of the circuitry for controlled motor behaviour

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10
Q

hoe leidt de repeats tot hd

A

teveel CAG repeats -> gene abnormality -> altered function of protein huntingtin -> extensive cortical + subcortical atrophy in caudate nucleus

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11
Q

dyskinesias =

A

verzamelnaam voor involuntary movements

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12
Q

wat voor motor symptoms bij hd

A

chorea
impaired gait, posture and balance
dystonia
rigidity
difficulty speech
difficulty swallowing

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13
Q

chorea =

A

involuntary movements, lijkt op dansen

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14
Q

dystonia=

A

disturbed muscle tone -> muscles start to contract involuntarily

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15
Q

cognitive symptoms of hd

A

reduced mental speed
attention deficit
executive syndrome
perseverance of thoughts and actions
memory problems
perception
language production
poor insight

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16
Q

reduced mental speed wat is hier mee

A

vaak het eerste symptoom
lastig te onderscheiden van motor problems

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17
Q

executive syndrome symptoms

A

mental rigidity
impaired inhibition and flexibility
loss of initiative
planning

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18
Q

memory problems in hd

A

at first mainly due to attentional and EF problems
learning and remembering
semantic memory intact

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19
Q

perception

A

basic visual functions such as shape matching

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20
Q

language production problem

A

fluency, hypophonia (zacht praten) en dysarthria (mainly secondary to motor problems, = moeilijk praten)

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21
Q

wat blijft intact van language bij hd

A

wordfinding and grammar

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22
Q

affective and psychiatric symptoms

A
  • Depression
  • Apathy
  • Anxiousness (increased risk suicide)
  • Irritable
  • Loss of decorum
  • Compulsive thoughts and actions
  • Psychotic behaviour (relatively rare)
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23
Q

diagnostiek

A
  • Motor rating scales: e.g. Unified Huntington’s Disease
    Rating Scale
  • Neuropsychology: cognitive impairments
  • Questionaires: affective en psychiatric questionnaires
24
Q

diagnosis hd is based on

A

(1) a family history of Huntington’s disease,
(2) a positive DNA test,
and (3) a gradual onset on (subtle) motor problems.

25
Q

treatment of hd

A

no cure, maar verlichten van symptoms:
* antidepressants (SSRIs) and sometimes antipsychotic medication (benzodiazepines)
* occupational therapy
* speech and language therapy
* physiotherapy

26
Q

juvenile hd if..

A

.the disease starts before 20

27
Q

3 phases of hd

A
  1. Initial phase of behavioral disorder, learning difficulty, gait disturbance, and mild chorea
  2. A florid phase with signs of mental deterioration, rigidity, speech disturbance, and seizures
  3. A terminal phase of bed confinement, hypotonia and increasing seizures
28
Q

the younger the age of onset of HD…

A

the shorter the survival

29
Q

relationship between repeats and disease onset

A

There is an inverse relationship between the number of
CAG repeats and the age of disease onset: the higher
the number of cag repeats, the lower likely will be the
age at which the disease manifests clinically.

dus meer repeats = eerder (en ook eerder overlijden)

30
Q

Huntington’s disease life expectancy

A

Time from the first symptoms to death is on average between 15 to 20 years

31
Q

parkinsons disease kenmerken

A

Substantia nigra
Reduced motor behaviour (akinesia, bradykinesia, masked
face)
Limited genetic basis
High prevalence

32
Q

huntingtons disease kenmerken

A

Striatum (putamen, nucleus caudatus)
Increased motor behaviour (hyperkinesia,
chorea)
Single gene genetic basis
Low prevalence

33
Q

both pd and hd…

A

may lead to dementia

34
Q

door wie was ms gevonden

A

Jean-Martin Charcot; grandfather of neurology. In 1868
he published a report of a woman with three progressive
symptoms: tremor, poor articulation, and double vision.

35
Q

ms kenmerken

A

Progressive disease of the brain and spinal cord

  • autoimmune disease: the immune system attacks the myelin sheath that covers nerve fibers and causes inflammation
  • in people with a genetic disposition: first degree relatives have a 10-fold change of developing the disease
36
Q

lesions in spinal cord

A

somatosensory perception in limbs

37
Q

lesions in optic nerve

A

visual problems

38
Q

lesions in brain stem and cerebellum

A

decreased power and motor coordination

39
Q

lesions in brain

A

cognitive and emotional impairments

40
Q

dus waar zitten de lesions meestal

A

spinal cord
optic nerve
brainstem and cerebellum
brain

41
Q

rrms

A
  • periods of new symptoms or relapses that develop over days or weeks and usually improve partially or completely
  • relapses are followed by periods of disease remission that can
    last months or even years.
42
Q

kijken naar model verschillende disease courses ms

A

oke

43
Q

wat voor damage in the brain bij ms

A

demyelination and inflammation -> atrophy
je ziet sclerae -> plaques or lesions in WM

44
Q

diagnosis at early stages of ms

A

Peripheral: electrophysiology -> measure transmission time over a
long axon with evoked responses

Central: TMS -> measure difference in transmission time between
stimulation over de motor strip and over the spinal cord

45
Q

consequences of ms disease

A

heel veel,
in cns, throat, sensation, urinary system, visual, speech, muscluloskeletal, bowel etc.

46
Q

kijken naar model van alle symptomen van ms

A

oke

47
Q

scale for the progression of ms

A

expanded disability status scale (EDSS)

48
Q

ms prevalence

A
  • About 2,500,000 people in the world
  • About 200 per 100.000
  • Higher proportion of women: 2 to 3 women for 1 man
  • Uneven distribution around the world (increases if you
    move away from the equator?)
  • Environmental factors?
49
Q

sensory-motor symptoms of ms

A
  • numbness or weakness in arm and/or leg -> on one side of your body at a time
  • electric-shock sensations -> bending the neck forward (Lhermitte sign)
  • tremor
  • lack of coordination or unsteady gait
  • fatigue
50
Q

visual symptoms of ms

A

partial or complete loss of vision, usually in one eye

51
Q

cognitive impairment in ms

A
  • Recent research shows that about 45 -70% of
    patients suffer from cognitive impairment.
  • However, only 5-10% develop dementia. If this
    happens it concerns a frontal-subcortical type of
    dementia.
52
Q

wat voor soort cognitive impairments

A
  • Bradyphrenia (slowness of thought)
  • Memory impairment
  • Retrieval problem with intact recognition
  • Slowly decreasing working memory
  • Impaired learning
  • Attention and concentration problems (PASAT)
  • Dysexecutive syndrome (less pronounced)
  • Language deficits (word-finding and slurred speech)
53
Q

affective problems of ms

A
  • depression (25 – 55 % and about 50% of MS
    patients experience one episode of depresion)
  • severe risk of suicide (15% of death in MS)
54
Q

treatment ms

A

no cure

  • treating relapses of MS symptoms (steroid medication)
  • treating specific MS symptoms, for instance:
  • fatigue (amantadine, exercise, keeping healthy sleep pattern)
  • cognitive problems: neuropsychological training programme’s
  • treatment to reduce the number of relapses, for instance, subcutaneous interferon beta-1a (IFN β-1a) and dietary regimes
55
Q

prognosis of ms

A

*chance of walking unaided after 15 years following disease onset is 50%.
* frequency of death by suicide is about 7.5 times higher compared to the general population.
* average life expectancy is 25 to 35 years after the diagnosis
* most common causes of death in MS patients are secondary complications resulting from immobility, chronic urinary tract infections,
compromised swallowing and breathing Multiple Sclerosis

56
Q

favorable factors for ms

A

female
low rate of relapses
complete recovery from first relapse
long interval between first and second attack
symptoms predominantly from afferent systems (sensory)
younger age of onset
low disability at 2-5 years from the disease onset
later cerebellar involvement
involvement of only one cns system at the time of onset

Clinical & Neuropsychology 2 (30 decks)

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