Brainscape's Knowledge GenomeTM

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


See full index

NMSP Exam 1 > Demyelinating, Neurodegenerative And Genetic Disorders > Flashcards

Demyelinating, Neurodegenerative And Genetic Disorders Flashcards

1
Q

What are demyelinating diseases?

A

Acquired conditions, preferentially damage myelin with relative preservation of axons

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

What are degenerative diseases?

A

Diseases of gray matter; progressive loss of neurons with associated secondary changes in white matter tracts; presence of protein aggregates that are resistant to degradation through ubiquitin proteasome system

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

How are degenerative diseases classified?

A

Asymptomatic/anatomic (anatomic regions affected reflect sx) or pathologic (types of inclusions or abnormal structures observed)

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

What is the clinical pattern for prion disease?

A

Rapidly progressive dementia

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

What are the inclusions for prion disease?

A

Kuru plaques and diffuse PrP deposits

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

What is the genetic cause for prion disease?

A

PrP

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

What is the clincal pattern for Alzheimer’s disease?

A

Dementia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

What are the inclusions for Alzheimer’s disease?

A

Amyloid beta plaques and tau tangles

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

What are genetic causes of Alzheimer’s?

A

APP, PS1 and 2, trisomy 21

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

What is the clinical pattern for frontotemporal degeneration (FTLD)?

A

Behavioral changes, language disturbance

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

What inclusions are seen in FTLD?

A

tau, TDP43, FUS

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

What are the genetic causes for FTLD?

A

Tau, TDP43, progranulin, C9orf72, FUS

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

What is the clinical pattern for PD?

A

Hypo kinetic movement disorder with or without dementia

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

What inclusions are associated with PD?

A

Alpha synuclein, or none

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

What are the genetic causes of PD?

A

Alpha synuclein (mutations or amplification), LRRK2, DJ1, PINK1, parkin

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

What is the clincal pattern for PSP?

A

Parkinsonism with abnormal eye movements

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

What inclusions are seen in PSP?

A

Tau (also the genetic cause)

18
Q

What is the clinical pattern for CBD?

A

Parkinsonism with asymmetric movement disorder

19
Q

What inclusion is seen with CBD?

A

Tau

20
Q

What is the clinical pattern for multiple system atrophy?

A

Parkinsonism, cerebellar ataxia, autonomic failure

21
Q

What inclusion is seen in MSA?

A

Alpha synuclein

22
Q

What is the clinical pattern for HD?

A

Hyperkinetic movement disorder

23
Q

What inclusion is seen with HD?

A

Huntington (Htt is genetic cause)

24
Q

What is the clinical pattern for spinocerebellar ataxia?

A

Cerebellar ataxia

25
Q

What inclusions are seen with spinocerebellar ataxias?

A

Various porteins (polyglutamine containing)

26
Q

What is the clinical pattern for ALS?

A

Weakness with upper and lower motor neuron signs

27
Q

What inclusions are seen with ALS?

A

SOD1, TDP43, FUS (also genetic causes)

28
Q

What is the clinical pattern for spinal bulbar muscular atrophy?

A

Lower motor neuron weakness, diminished androgen

29
Q

What inclusions are seen with SBMA?

A

Androgen receptor (polyglutamine containing); androgen receptor also genetic cause

30
Q

What are neurofibrillary tangles?

A

Bundles of filaments in cytoplasm of neurons that displace or encircle nucleus (not specific to AD unlike plaques)

31
Q

What kind of neurofibrillary tangles are present in pyramidal neurons?

A

Flame tangles

32
Q

What kind of neurofibrillary tangles are present in the round nucelus?

A

“Globose”, basket weave or fibers around nucleus

33
Q

Basophilic fibrillar structures can be seen with which stain?

A

Bielschowsky stain (silver stain)

34
Q

What kind of neurofibrillary tangles are present after death?

A

Ghost or tombstone tangles

35
Q

What is tau?

A

Abnormally hyper phosphorylated, axonal microtubule associated protein that enhances microtubule assembly —> forming tangles (MAP2 and ubiqutin)

36
Q

What is MPTP?

A

Illegal psychoactive meperidine analogues (heroin) —> acute Parkinsonism and destruction of neurons in the substantia nigra

37
Q

What are neuronal storage diseases?

A

Mostly autosomal recessive; defect in catabolism of sphingolipids, mucopolysaccharides or mucolipids; accumulation of substrate of enzymes in lysosomes (neuronal death); cortical involvement includes loss of cognitive function and possible seizure activity

38
Q

What are leukodystrophies?

A

Mostly AR except adrenoleukodystrophy is X linked; loss of cerebral function at younger ages; myelin abnormalities; diffuse involvement of white matter (deterioration of motor skills, spasticity, hypotonia or ataxia)

39
Q

What are mitochondrial encephalopathies?

A

Oxidative phosphorylation disorders (generation of ATP, neurons critically dependent on it); mutations in mitochondrial or nuclear genomes; selectively target neurons

40
Q

What is heteroplasmy?

A

Presence of both wild type and mutated mitochondrial genomes within different populations of mitochondria in single cells —> wide cell to cell variation in disease expression

NMSP Exam 1 (8 decks)

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