Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

Neurology > Neurogenetics > Flashcards

Neurogenetics Flashcards

1
Q

what type of inheritance is duchenne MD

A

x linked recessive

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

what is the onset and progression of duchennes

A

delay in motor development
onset of weakness 3-4 years (pelvic and shoulder girdle)
wheelchair bound by 10-12 years
death from involvement of respiratory and cardiac muscles

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

what is the characteristic posture of duchennes

A

accentuated lumbar lordosis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

what hypertrophies in duchennes

A

calf muscles

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

what causes duchenes

A

mutation in dystrophin gene in X chromosome that causes a dystrophin deficiency (dystrophin connects the contractile elements of the cell- muscle cells unable to renew and so degenerate with age)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

what are the majority of mutations in duchennes

A

large scale mutations (70%)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

how is duchennes diagnosed

A 
gowers sign, toe walking 
raised serum CK 
electromyography (EMG)
muscle biopsy (not done as painful)
molecular genetic testing
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

what is autosomal recessive limb girdle muscular dystrophies

A

dystrophy similar to duchennes

mutation not in X chromosome so affects boys and girls equally in a recessive pattern

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

why are females protected from x linked conditions

A

as have other working x chromosome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

if a mother is carrier of duchennes what is the chance of a son getting it

A

1 in 2

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

how many cases of duchennes are not inherited but caused by a new mutation

A

1/3rd

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

how prevelant is duchennes

A

1 in 3000

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

what mutation testing can be done in duchennes

A

can identify in affects or in female carriers

pre natal testing in female carriers

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

what is the screening test for duchennes

A

serum CPK

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

how prevelant is huntingtons disease

A

1 in 20,000

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

what is huntingtons disese and its symptoms

A

progressive neurodegenerative disorder

  • onset between 30-50
  • involuntary movements
  • dementia
  • progresses to severe dependency and death
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

what is the inheritance of huntingtons

A

autosomal dominant

age dependant penetrance

18
Q

what are the early clinical signs of huntingtons

A 
clumsiness
agitation 
irritability 
apathy 
anxiety 
disinhibition 
delusions, hallucinations 
abnormal eye movements 
depression
19
Q

what are the intermediate clinical signs of huntingtons

A 
dystonia 
involuntary movements 
balance and gait problems 
reduced manual dexterity 
slow voluntary movements 
difficulty initiating movements 
inability to control speed and force of movement 
weight loss (swallowing difficulties)
speech difficulties (dysarthric speech)
stubborness
20
Q

what is dystonia

A

sustained or repetitive muscle contractions result in twisting and repetitive movements or abnormal fixed postures

21
Q

what are the late clinical signs of huntingtons

A 
rigidity 
bradykinesia (difficulty initiating and continuing movements)
severe chorea 
serious weight loss
inability to walk 
inability to speak 
swallowing problems, danger of choking 
dependence
22
Q

what is caudate atrophy

A

loss of cortical tissue (caudate nuclei- usually project into the lateral ventricles)
get it in huntingtons

23
Q

what causes huntingtons

A

mutations in the huntingtons gene
CAG (Codes for glutamine- in huntingtons this gene is expanded causing an accumulation of glutamine which has a neurotoxic effect)

24
Q

why does huntingtons have earlier onset in each generation

A

as more repeats of the CAG gene get added each generation- neurogenerative condition

25
Q

what does age dependent penetrance in huntingtons mean

A

the older you get the lower your risk of getting the condition

26
Q

what genetic testing is done for huntingtons

A

pre natal and pre gestational

no known treatment to stop progession so essential to have informed consent

27
Q

what is spinal muscular atrophy

A

a neurodegenerative disorder that causes progressive loss of anterior horn cells in spinal cord and brain stem nuclei

28
Q

what is the inheritance of spinal muscular atrophy

A

autosomal recessive

variable age of onset and rate of progression (types 0-4 depending on age of onset)

29
Q

what are the features of spinal muscular atrophy

A

proximal muscles weakness

tongue fasciculation

30
Q

what causes spinal muscular atrophy

A

SMN1 deficiency (essential for survival of LMNs) due to mutation making gene unable to make mRNA

31
Q

if both parents are carriers for spinal muscular atrophy what is the chance of the child being affected

A

1 in 4

32
Q

how do drugs work against spinal muscular atrophy

A

mRNA which alters the pattern of slicing and allows it to retain the exon (exon 7) that would be missing in the disease- retains the proteins that would be deficient
Drug needs to be intra-thecal injected = lumbar puncture

33
Q

what condition does alzheimer disease cause

A

dementia

34
Q

who gets alzheimers

A

usually occurs in old age
can cause pre senile dementia
some clustering in families

35
Q

what causes alzheimers

A 
loss of cortical neurones 
neurofibrillary tangles (intracellular proteins)
senile plaques (extracellular protein deposits)
36
Q

what are senile plaques

A

extracellular protein deposits containing amyloid beta protein

37
Q

what is the inheritance of alzheimers

A

autosomal dominant in 5-10% of cases (usually early onset)
common multifactoral forms

get it in down syndrome (onset in 3rd or 4th decade)

is genetically heterogenious (same phenotype produced)

38
Q

what mutations cause autosomal dominant alzheimers

A

APP (amyloid precursor gene- senile plaques)
presenilin 1 and 2 (more common than APP)
ApoE (associated with familial clusters)

(APP gene involves in splicing secretase)

39
Q

what are the types of ApoE genotypes associated with in alzheimers

A

E4 prediposes to the disease with clustering in families

E2 associated with longevity and old age without the disease

40
Q

what is the inheritance of multiple sclerosis

A

multifactoral - polygenic

some clustering in families

Neurology (35 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions