Neurodegenerative Diseases - Random Order!!! Flashcards Preview

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Flashcards in Neurodegenerative Diseases - Random Order!!! Deck (21)
1

Corticobasal Degeneration - presentation and Pathology

Parkinsonism + Alien Limb Phenomenon + Asymetric motor signs + Dementia 

 

see ballooned, achromatic neurons 

tau+ inclusions 

deep gray matter and brainstem 

2

Variant Creutzfeldt-Jakob disease differences from regular CJD?

Younger Age at onset

Longer disease duration 

 

+Florid Plaques: amyloid core surroudnded by spongiosis

PrPsc detectable in lymphoid tissue 

 

MAd Cow Disease 

2

Chronic Traumatic Encephalopathy - what happens and what are symptoms and pathology?

Consequence of repetitive mild TBI (concussions) and get symptoms 8-10 yrs later 

Symptoms include irritability, impulsivity, aggression, depression, short term memory loss, and heightened suicidality 

 

See Tau Accumulation in patchy distribution - focal areas of increased tau at the cortical surface and in depths of sulci 

 

Increased reactivity in Amygdala 

3

What do you see in Binswanger's disease - subtype of vascular dementia?

White Matter Degeneration secondary to vascular disease - can look like a Leukodystrophy!!!

See Small Artery Sclerosis 

Severe Arteriosclerosis + WM Damage = Binswangers

4

Lewy Body Dementia - Presentation!!!!!! And patholgy

Presentation: *Fluctuating Cognition - 2nd most common form of dementia

Personality changes, visual hallucinations, and LATER get Parkinsonism 

 

Cortical Disease process occurs first and get Lewy Bodies and Lewy Neurites that are synuclein positive in cortex, brainstem and limbic system 

4

What the heck is CADASIL eh?

 

Pathology? 

 

Gene involvement? 

Cerebral Autisomal Dominant Angiopathy with Subcortical Infarcts and Leukoencephalopathy 

NOTCH 3 Mutation!!!! 

See White Matter Degeneration and infarcts 

Vascular thickening with PAS+ Deposits

Also present in BV in skin 

 

5

Synucleinopathies - what's happening there? 

 

What are some examples of them? 

See Neurodegeneration + accumulation of Alpha-synuclein 

 

Parkinson's Disease

Lewy Body Dementia

Multiple System Atrophy (Alpha-synucliein + Oligodendrocytes) 

5

Pathology in FTD with Parkinsonism? 

 

Pathology in FTD with Motor Neuron disease? 

FTD+P = Tau positive Neurofibrillary tangles, Frontotemporal degeneration and degeneration of Substantia Nigra

 

FTD+ALS = Frontotemporal degeneration and TDP-43+ Inclusions 

6

Progressive Supranuclear Palsy - Presentation and Pathology

PSP = Parkinsonism + Taupathy!!!!!!!

 

Parkinsonism + Vertical Gaze Paralysis 

 

see Tau+ Neurofibrillary degeneration in neurons AND glia in deep gray matter and brainstem 

7

What are the 3 forms of Vascular Dementia? 

Multiple Infarct Dementia

 

Binswanger's Disease

 

CADASIL 

8

Creutzfeltdt Jakob Disease - Pathology and Presentation 

Presentation: Rapidly progressive dementia, Startle Myoclonus, Period Sharp Waves on EEG 

-middle age or older 

 

see PrPsc instead of normal Pr (chromosome 19) and get Spongiform degeneration of Gray Matter 

10

Genes involves in Alzheimer's Disease? 

Familial Early Onset AD: 

Chromosome 21 - (seen with Down Syndrome) Gene for  Beta Amyloid Precursor Protein 

Chromsome 14 - Presenilin 1 

Chromosome 1 - Presenilin 2

Beta-APP is cleaved by beta and gamma secretase encoded for by the Presenilin genes 

Late onset AD: Apolipoprotein E4 allele 

E4 involved in lipid transport 

11

Multiple System Atrophy - Presentation and Pathology

Parkinsonism (with poor response LDOPA) + Ataxia + Autonomic Failure

***Alpha-synuclein positive OLIGODENDROGLIAL cytoplasmic inclusions 

 

Striatonigral degeneration 

Olivopontocerebellar degeneration (cerebellum and inf olivary nuerons) 

Shy-Drager syndrome - pregangionic sympathetic neuron loss - degeneration of intermediolateral cell column of SC 

 

13

Parkinson Disease = Pathology and genetics

Loss of Da Neurons in Substantia Nigra 

See Lewy Bodies (Synuclein positive eosinophilic inclusion with halo around it ) in Substantia nigra 

 

 

Familial Disease linked to Alpha-synuclein PARK1 Genes

15

What is Parkinsonism? 

Presentation of Rigidity, Bradykinesia, and Tremor 

16

ALS Presentation and Pathology

 

 

Gene? 

Muscle WEakness/wasting but cognition preserved (except for 10% also have FTD) 

 

Degeneration of Upper and Lower Motor Neurons 

Lower = Neurogenic atrophy of skeletal muscles (Amyotrophy) 

Upper = Lateral Column Degeneration ( Wallerian Degeneration) 

See Bunina Bodies and TDP43+ inclusions in motor neurons 

 

 

small percentage of Cu-Zn Superoxide Dismutase Germline Mutations (SOD1) 

17

Clinical PResentation of Alzheimer's Disease? 

 

Pathology of Alzheimer's Disease? 

Progressive Memory Loss + Dysfunction in at LEAST one other cognitive domain

 

See Amyloid plaques (Amyloid beta staining with congo red to see beta-pleated sheets)

 

see Neurofibrillary tangles with Tau

18

What are the 3 types of Fronto-temporal Dementia?

 

General Pathology of FTD?

Pick Disease

FTD with Parkinsonism linked to Chromosome 17 (tau) 

FTD with motor neuron disease - spectrum of ALS

 

In general, see atrophy of FT lobes - knife blade atrophy 

dementia with lots of accumulations that are non-AD and non-LB

19

Most common cause of familial FTD and ALS worldwide? 

Most sporadic but some from C9orf72 hexanucleotide repeat expansion 

20

Tauapathies - in general what's happening? 

 

What are examples of Taupathies? 

See neurodegenerative diseases with accumulation of phosphorylated tau

Tau is a microtubule associated protein on Chromosome 17 

 

Picks Disease and FTD

Progressve Supranuclear palsy

Corticobasal Degeneration

Chronic Traumatic Encephalopathy

Alzheimer's Disease 

21

Pick Disease PResentation and Pathology

 

 

Presentation - Language Dysfunction, Personality changes, Memory Loss

 

Tau-positive Pick Bodies (rounde dinclusins +tau stain) and Ballooned neurons