Neurodegenerative Disorders Flashcards

1
Q

Pathogenesis of Multiple Sclerosis

A

chronic degenerative demyelination of white matter in the CNS by TH1 and TH17 lymphocytes

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2
Q

Diagnostics of Multiple sclerosis

A

oligoclonal IgG bands in CSF electrophoresis

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3
Q

Acute Morphology of MS

A

periventricular inflammatory infiltrates

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4
Q

chronic morphology of MS

A

loss of oligodendrocytes

astrocyte proliferation

gliosis

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5
Q

Associations of MS

A

HLA-DR2

Vitamin D Insufficiency

EBV

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6
Q

Most common sites for MS

A

Periventricular areas

Brain Stem

Optic Nerve

Cerebellum

Spinal Cord

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7
Q

Morphology of PML

A

demyelination of axons and intranuclear inclusions

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8
Q

Diagnostics of PML

A

PCR shows JC Virus in CSF

MRI: non-enhancing white matter lesions

without mass effect

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9
Q

What causes central pontine myelinosis

A

Rapid correction of chronic hyponatremia causes cell lysis

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10
Q

behavior changes

cognitive disorder

impaired vigilance

seizure

A

Presentation of PML

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11
Q

autonomic dysfunction

charcot triad

abnormal reflexes/ sensation

Lhermitte sign

Internuclear opthalmoplegia

Optic neuritis

A

Presentation of MS

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12
Q

Locked in syndrome

AMS

pseudo bulbar signs

A

Presentation of central pontine myelinosis

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13
Q

what are pseudobulbar signs

A

dysarthria

dysphagia

dysphonia

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14
Q

Pathogenesis of Alzheimer Disease

A

Extracellular senile plaques and intracellular neurofibrillary tangles cause damage to the hippocampus and cause degeneration of cholinergic neurons in the nucleus basalis of Meynert

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15
Q

what ar Alzheimer plaques made of

A

AB protein

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16
Q

What are Alzheimer tangles made of

A

hyperphosphorylated tau proteins

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17
Q

Diagnostics of Alzheimer Disease

A

CT/MRI: widened sulci with narrowed gyri

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18
Q

Morphology of Alzheimer Disease

A

intracellular neurofibrillary tangles and extracellular neuritic plaques

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19
Q

Abnormal amyloid gene expression on chromosome 1 is due to

A

presenilin 2 mutation

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20
Q

Abnormal amyloid gene expression on chromosome 14 is due to

A

Presenilin 1 mutation

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21
Q

Abnormal amyloid gene expression on chromosome 21 is due to

A

APP mutation

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22
Q

Associations of Alzheimer Disease

A

Hydrocephalus ex vacuo

Down Syndrome

HTN

DM type 2

HLD

Traumatic brain injury

family history

ACh deficiency

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23
Q

Morphology of Frontotemporal dementia

A

spherical intracellular hyperphosphorylated tau inclusion bodies

Hyperphosphorylated TDP-43

24
Q

What are pick bodies

A

spherical intracellular hyperphosphorylated tau inclusion bodies

25
Q

Contrast CSF of FTD and Alzheimer Disease

A

FTD: increased AB protein

AD: decreased B amyloid, but increased phosphorylated tau

26
Q

Pathogenesis of FTD

A

mutations in microtubule associated tau proteins or progranulin gene

27
Q

Diagnostic findings of someone with HIV-associated dementia

A

CD4 <200

28
Q

Morphology of HIV associated dementia

A

Microglial nodules: macrophage-derived multinucleated giant cells and foci of tissue necrosis with reactive gliosis

29
Q

What are lewy bodies

A

intranuclear eosinophilic inclusions of misfolded alpha synuclein

30
Q

Pathogenesis of Lewy bodies dementia

A

Lewy bodies in glial cells cause myelin and glial dysfunction with subsequent neuronal degeneration

31
Q

Diagnostics of Lewy Body Dementia

A

cerebral atrophy of the frontal lobe with relative sparing of the hippocampus

32
Q

Paranoia

frequent falls

cognitive fluctuations

impaired executive function and attention

Late onset dementia

Parkinsonism

A

Features of Lewy Body Dementia

33
Q

Behavior changes

Personality Changes

Dementia

A

Features of FTD

34
Q

Subcortical dementia

Attention/ Working Memory/ Executive function Deficit

Slow information processing

A

Features of HIV associated dementia

35
Q

Memory loss

anomic aphasia

apraxia

visual-spatial deficits

behavior/ mood changes

hallucinations

paranoia

incontinence

seizure

A

Features of Alzheimer Disease

36
Q

Pathogenesis of Parkinson disease

A

nigrostriatal degeneration leads to excessive excitation of GPI by the subthalamic nucleus causing excessive inhibition of the thalamus

37
Q

Inheritance of Huntington Disease

A

Autosomal Dominant

38
Q

pathogenesis of Huntington Disease

A

CAG repeats on chromosome 4 causes neuronal loss and gliosis in the caudate nucleus, decreasing GABA and ACh

39
Q

caudate atrophy with enlargement of lateral ventricles

A

CT/MRI of Huntington Disease

40
Q

Lewy bodies in Basal ganglia

A

Parkinson Disease

41
Q

Lewy Bodies in Cortex

A

Lewy Body Dementia

42
Q

features of Huntington disease

A

chorea

aggressiveness

depression

progressive dementia

43
Q

features of Parkinson disease

A

bradykinesia/ akinesia

resting tremor

pill-rolling tremor

cogwheel rigidity

postural instability

shuffling gait

44
Q

features of Freidrich Ataxia aside from ataxia

A

frequent falls

intention tremor

scoliosis

45
Q

Features of Ataxia-telangiectasia aside from ataxia and telangiectasia

A

recurrent infection

Athetosis

46
Q

Mode of inheritance of Friedrich Ataxia and Ataxia-telangiectasia

A

Autosomal Recessive

47
Q

PAthogenesis of Friedrich Ataxia

A

GAA trinucleotide repeats on the frataxin gene of chromosome 9 cause mitochondrial accumulation of iron, leading to free radical damage and degeneration

48
Q

Pathogenesis of Ataxia-Telangiectasia

A

mutation of ATM gene, causing inability to repair dsDNA breaks

49
Q

Diagnostics of Friedrich Ataxia

A

absent/ reduced nerve action potential

normal motor conduction until late stages

50
Q

Associations of Friedrich Ataxia

A

hypertrophic cardiomyopathy

first decade of life

51
Q

Associations of Ataxia-Telangiectasia

A

increased risk for carcinomas, gliomas and lymphomas

52
Q

What is ALS

A

Asymmetric UMN and LMN impairment due to mutation of SOD1 gene

53
Q

Signs of ALS

A

asymmetric limb weakness

UMN and LMN signs

dysarthria

dysphagia

cognitive impairment

respiratory failure

54
Q

Diagnostics of ALS

A

Normal nerve conduction

Elevated Creatine Kinase

55
Q

Morphology of ALS

A

thin ventral roots

atrophy of precentral gyrus

UMN and LMN degeneration at corticospinal tracts

muscle atrophy

gliosis

bunina bodies

loss of LMN at anterior horn

56
Q

what are Bunina bodies

A

eosinophilic inclusions located in nerve cell cytoplasm, as seen in ALS