Neurodegenerative Disorders Flashcards by Bonita Simmons

Pathogenesis of Multiple Sclerosis

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

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Diagnostics of Multiple sclerosis

oligoclonal IgG bands in CSF electrophoresis

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Acute Morphology of MS

periventricular inflammatory infiltrates

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chronic morphology of MS

loss of oligodendrocytes

astrocyte proliferation

gliosis

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Associations of MS

HLA-DR2

Vitamin D Insufficiency

EBV

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Most common sites for MS

Periventricular areas

Brain Stem

Optic Nerve

Cerebellum

Spinal Cord

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Morphology of PML

demyelination of axons and intranuclear inclusions

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Diagnostics of PML

PCR shows JC Virus in CSF

MRI: non-enhancing white matter lesions

without mass effect

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What causes central pontine myelinosis

Rapid correction of chronic hyponatremia causes cell lysis

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behavior changes

cognitive disorder

impaired vigilance

seizure

Presentation of PML

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autonomic dysfunction

charcot triad

abnormal reflexes/ sensation

Lhermitte sign

Internuclear opthalmoplegia

Optic neuritis

Presentation of MS

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Locked in syndrome

AMS

pseudo bulbar signs

Presentation of central pontine myelinosis

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what are pseudobulbar signs

dysarthria

dysphagia

dysphonia

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Pathogenesis of Alzheimer Disease

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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what ar Alzheimer plaques made of

AB protein

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What are Alzheimer tangles made of

hyperphosphorylated tau proteins

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Diagnostics of Alzheimer Disease

CT/MRI: widened sulci with narrowed gyri

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Morphology of Alzheimer Disease

intracellular neurofibrillary tangles and extracellular neuritic plaques

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Abnormal amyloid gene expression on chromosome 1 is due to

presenilin 2 mutation

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Abnormal amyloid gene expression on chromosome 14 is due to

Presenilin 1 mutation

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Abnormal amyloid gene expression on chromosome 21 is due to

APP mutation

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Associations of Alzheimer Disease

Hydrocephalus ex vacuo

Down Syndrome

HTN

DM type 2

HLD

Traumatic brain injury

family history

ACh deficiency

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Morphology of Frontotemporal dementia

spherical intracellular hyperphosphorylated tau inclusion bodies

Hyperphosphorylated TDP-43

What are pick bodies

spherical intracellular hyperphosphorylated tau inclusion bodies

Contrast CSF of FTD and Alzheimer Disease

FTD: increased AB protein AD: decreased B amyloid, but increased phosphorylated tau

Pathogenesis of FTD

mutations in microtubule associated tau proteins or progranulin gene

Diagnostic findings of someone with HIV-associated dementia

CD4 \<200

Morphology of HIV associated dementia

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

What are lewy bodies

intranuclear eosinophilic inclusions of misfolded alpha synuclein

Pathogenesis of Lewy bodies dementia

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

Diagnostics of Lewy Body Dementia

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

Paranoia frequent falls cognitive fluctuations impaired executive function and attention Late onset dementia Parkinsonism

Features of Lewy Body Dementia

Behavior changes Personality Changes Dementia

Features of FTD

Subcortical dementia Attention/ Working Memory/ Executive function Deficit Slow information processing

Features of HIV associated dementia

Memory loss anomic aphasia apraxia visual-spatial deficits behavior/ mood changes hallucinations paranoia incontinence seizure

Features of Alzheimer Disease

Pathogenesis of Parkinson disease

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

Inheritance of Huntington Disease

Autosomal Dominant

pathogenesis of Huntington Disease

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

caudate atrophy with enlargement of lateral ventricles

CT/MRI of Huntington Disease

Lewy bodies in Basal ganglia

Parkinson Disease

Lewy Bodies in Cortex

Lewy Body Dementia

features of Huntington disease

chorea aggressiveness depression progressive dementia

features of Parkinson disease

bradykinesia/ akinesia resting tremor pill-rolling tremor cogwheel rigidity postural instability shuffling gait

features of Freidrich Ataxia aside from ataxia

frequent falls intention tremor scoliosis

Features of Ataxia-telangiectasia aside from ataxia and telangiectasia

recurrent infection Athetosis

Mode of inheritance of Friedrich Ataxia and Ataxia-telangiectasia

Autosomal Recessive

PAthogenesis of Friedrich Ataxia

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

Pathogenesis of Ataxia-Telangiectasia

mutation of ATM gene, causing inability to repair dsDNA breaks

Diagnostics of Friedrich Ataxia

absent/ reduced nerve action potential normal motor conduction until late stages

Associations of Friedrich Ataxia

hypertrophic cardiomyopathy first decade of life

Associations of Ataxia-Telangiectasia

increased risk for carcinomas, gliomas and lymphomas

What is ALS

Asymmetric UMN and LMN impairment due to mutation of SOD1 gene

Signs of ALS

asymmetric limb weakness **UMN and LMN signs** dysarthria dysphagia cognitive impairment respiratory failure

Diagnostics of ALS

Normal nerve conduction ## Footnote **Elevated Creatine Kinase**

Morphology of ALS

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

what are Bunina bodies

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