NP: Lecture 12 Motor Disorders II

Question 1

eerste case van huntington

Answer 1

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).

Question 2

huntington kenmerken

Answer 2

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

Question 3

hoeveel repeats per severity

Answer 3

• mild: 36 < CAG > 39
• severe: CAG > 40

Question 4

incidence hd

Answer 4

60 cases per year nl

Question 5

onset hd

Answer 5

between 30-40

Question 6

kijken naar plaatje dna bij huntington

Answer 6

oke

Question 7

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.

Answer 7

oke

Question 8

waar is degeneration bij hd

Answer 8

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

Question 9

waar leidt deze degeneratie toe

Answer 9

interruption of the circuitry for controlled motor behaviour

Question 10

hoe leidt de repeats tot hd

Answer 10

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

Question 11

dyskinesias =

Answer 11

verzamelnaam voor involuntary movements

Question 12

wat voor motor symptoms bij hd

Answer 12

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

Question 13

chorea =

Answer 13

involuntary movements, lijkt op dansen

Question 14

dystonia=

Answer 14

disturbed muscle tone -> muscles start to contract involuntarily

Question 15

cognitive symptoms of hd

Answer 15

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

Question 16

reduced mental speed wat is hier mee

Answer 16

vaak het eerste symptoom
lastig te onderscheiden van motor problems

Question 17

executive syndrome symptoms

Answer 17

mental rigidity
impaired inhibition and flexibility
loss of initiative
planning

Question 18

memory problems in hd

Answer 18

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

Question 19

perception

Answer 19

basic visual functions such as shape matching

Question 20

language production problem

Answer 20

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

Question 21

wat blijft intact van language bij hd

Answer 21

wordfinding and grammar

Question 22

affective and psychiatric symptoms

Answer 22

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

Question 23

diagnostiek

Answer 23

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

Question 24

diagnosis hd is based on

Answer 24

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

Question 25

treatment of hd

Answer 25

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

Question 26

juvenile hd if..

Answer 26

.the disease starts before 20

Question 27

3 phases of hd

Answer 27

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

Question 28

the younger the age of onset of HD...

Answer 28

the shorter the survival

Question 29

relationship between repeats and disease onset

Answer 29

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)

Question 30

Huntington’s disease life expectancy

Answer 30

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

Question 31

parkinsons disease kenmerken

Answer 31

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

Question 32

huntingtons disease kenmerken

Answer 32

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

Question 33

both pd and hd...

Answer 33

may lead to dementia

Question 34

door wie was ms gevonden

Answer 34

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.

Question 35

ms kenmerken

Answer 35

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

Question 36

lesions in spinal cord

Answer 36

somatosensory perception in limbs

Question 37

lesions in optic nerve

Answer 37

visual problems

Question 38

lesions in brain stem and cerebellum

Answer 38

decreased power and motor coordination

Question 39

lesions in brain

Answer 39

cognitive and emotional impairments

Question 40

dus waar zitten de lesions meestal

Answer 40

spinal cord optic nerve brainstem and cerebellum brain

Question 41

rrms

Answer 41

- 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.

Question 42

kijken naar model verschillende disease courses ms

Answer 42

oke

Question 43

wat voor damage in the brain bij ms

Answer 43

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

Question 44

diagnosis at early stages of ms

Answer 44

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

Question 45

consequences of ms disease

Answer 45

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

Question 46

kijken naar model van alle symptomen van ms

Answer 46

oke

Question 47

scale for the progression of ms

Answer 47

expanded disability status scale (EDSS)

Question 48

ms prevalence

Answer 48

* 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?

Question 49

sensory-motor symptoms of ms

Answer 49

* 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

Question 50

visual symptoms of ms

Answer 50

partial or complete loss of vision, usually in one eye

Question 51

cognitive impairment in ms

Answer 51

* 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.

Question 52

wat voor soort cognitive impairments

Answer 52

* 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)

Question 53

affective problems of ms

Answer 53

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

Question 54

treatment ms

Answer 54

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

Question 55

prognosis of ms

Answer 55

*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

Question 56

favorable factors for ms

Answer 56

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