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74 Cards in this Set

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Chr14: presenilin 1
Chr1: presenilin 2
Chr21: APP
These 3 genes are all involved in early onset of this disease.
cortex: atrophy, degeneration of neurons
hippocampus: memory deficits
basal nucleus of meynert & basal forebrain: degeneration of basal forebrain cholinergic neurons
progressive dementia:
1. progressive decline in short-term memory
2. lang/speech difficulties
3. visuospatial disorientation
4. apraxia
5. personality changes
-Most common cause of dementia in US.
-Imparied memory, cognition, functional decline.
-Equal: men/women
-50% of 85+ YO
-Down's (trisomy 21) is risk factor
Large amts. of senile/neuritic plaques (with amyloid beta) and neurofibrillary tangles (with large amts. of phosphorylated tau protein) are necessary for diagnosis of what disease?
cortical atrophy (same as AD)
1. dementia
2. parkinsonisms: bradykinesia, tremor, resistant to L-DOPA, hallucinations
Dementia + Hallucinations=DLB
3. cognitive changes different than those seen in PD
What abnormal protein deposits are found in the cortex, basal ganglion, & substantia nigra--in what disease?
What abnormal protein contains deposits of alpha-synuclein & ubiquitin?
In what brain structure are LB's well defined? What disease process does this involve?
Substantia Nigra, DLB
In what brain structure are LB's ill defined? What disease process does this involve?
Cortex, DLB
What disease causes progressive dementia, with an unknown cause?
-No plaques, tangles, or lewy bodies
-lesions in frontal/temporal cortex-->"blade-like gyri"
-Non-Alzheimer's Dementia, affects Frontal and Temporal Lobes
-Personality change, language dysfunction, and affective symptoms
1. Loss of neurons
2. Extreme atrophy of frontal and temporal lobes
3. Tau Protiens inclusions
Variant of FTD
Pick's Disease (Lobar Atrophy)
Extreme Atrophy limited to frontal and temporal lobes of brain.
-Neurons distend/stain + for ubiquitin inclusions
Pick's Disease (Lobar Atrophy)
-Cerebral atrophy with gliosis and loss of cortical neurons, especially affecting temporal and frontal lobes.
-onset~60 YO
-ubiquitin marks the abnormal proteins for destruction
Pick's Disease (Lobar Atrophy)
What are round/ovoid intraneural cytoplasmic inclusions containg p-lated tau called? What diesease process are they involved in?
Pick Bodies, Pick's Disease (Lobar Atrophy)
A patient presents with dementia and no other specific features, what disease does he most likely have?
Patient presents with dementia and hallucinations, what disease does the patient most likely have?
Patient with dementia and an autopsy report shows severe atrophy of the brain in the frontal and temporal regions. How did the patient die?
-expanded polygluatamine repeat in exon
-autosomal dominant
Huntington's Disease
-Atrophy of the Straitum (caudate and the putamen), cortex, globus pallidus
-Atrophy in caudate nucleus causes boxcar ventricles
Huntington's Disease
Clinical presentation involves chorea, behavioral and cognitive changes
Huntington's Disease
1.Striatum Atrophy
2.Trinucleotide Repeat Disease
3.Neuronal Loss
5.NO Inclusion Bodies
6.Onset 35-40 YO
Huntington's Disease
-Synuclein protein, this is the major protein found in what? What disease is synuclein protein involved in?
Lewy Bodies, Parkinson's Disease
LB's which cause degeneration of the neurons in the substantia nigra-->decrease dopamine-->depigmentation
Parkinson's Disease
1.Resting Tremor
4.Gait Instability
Parkinson's Disease
Microscopically-->see LB's which have a dense core and a clear halo.
Parkinson's Disease
-autosomal recessive
-decrease plasma binding of Cu
-can be reversed by a Cu chelator
Wilson's Disease
Effects the basal ganglion, this is a disease of theliver and of the lens
Wilson's Disease
-cornea has manifestation of Kayser-Fleischer Rings
-occurs in adolescents and young adults
-movement disorders such as dystonia
-behavioral, cognitive changes
Wilson's Disease
Copper deposits (toxic levels) in: liver, cornea, basal ganglia (lenticular nuclear=putamen + globus pallidus)
Wilson's Disease
Chr21 that affects copper/zinc superoxide dismutase gene
Skeletal muscle atrophy, lateral column degeneration due to corticospinal tract degeneration, atrophies of the spinal roots
-Rapidly progessive UMN & LMN failure leading to death, most often respiratory failure
-UMN-->increased reflexes
-UMN degeneration-->cortical atrophy-->degeneration of the lateral cortical spinal tract
-LMN degeneration-->anterior motor neurons of spinal cord
-skeletal muscle atrophy
-Autosomal recessive trinucleotide repeat in intron-->affects regulation of gene expression
Friedreich's Ataxia
Lesions occur in:
2.Spinal Cord
Friedreich's Ataxia
1.Gait Ataxia
2.Cerebellar Incoordination
3.Sensory Deficits
4.Cardiac & other abnormalities
Friedreich's Ataxia
Onset ~10 YO (before 25 YO typically)
Friedrich's Ataxia
-protein with abnormal configuration
-replicates by transforming a normal protein into an abnormal conformation
-are resitant to degradation
-accumulate in specific cell types-->cause disease b/c of neuronal cell death
Prion Disease
-Characteristics of Disease: Progressive neurological deterioration, heterogenous phenotype for a variety of reasons.
Prion Disease
-Normal conformation of protein is an alpha-helix
-Abnormal conformation of protein=B-pleated sheets which are protease resistant and form aggregates
Prion Disease
Codon at 129: Met/Val
Codon at 178: Asp
Normal Prion Protein
Codon at 129: Val
Codon at 178: Asn
CJD with cortex lesions
Codon at 129: Meth
Codon at 178: Asn
-CJD with lesions to thalamus & superior olive
-Pt presents with Fatal Familial Insomnia
-Clinical course is dementia with myoclonus and progressive neurological decline.
-Death usually occurs in less than a year after onset of symptoms.
-Pathological changes include spongiform encephalopathy.
-Also neural necrosis
-Usually under 45 yo
-Behavioral changes more prominent and ataxia presents early on
-All had characteristics of codon 129 which made them more susceptible
Variant CJD in Great Britain, AKA Mad Cow Disease
An infection of Bovine Spongiform Encephalopathy causes what disease?
Variant CJD in Great Britain, AKA Mad Cow Disease
-CNS lesion: cerebral & cerebellar cortex
-Motor nerves affected
-Children: CNS & PNS
-Adults: PNS
Lead Poisoning
CNS: edema, white matter necrosis, vascular proliferation, glial proliferation, neuron damage
PNS: segmental demyelination & axon degeneration
Lead poisoning
CNS effects (esp children):
-acute-->increased ICP, seizure
-chronic-->cognitive effects

PNS: segmental demyelination of motor nerves-->wrist/foot drop, slowed nerve conduction, later axonal degeneration
Lead poisoning
Results primarily in sensory neuropathy
Arsenic Poisoning
arSENic poisoning results in SENsory neuropathy
Permanent deficits in 4 locations:
1.Cerebral cortex (laminar necrosis)
2.Hippocampus (pyramidal cells)
3.Cerebellum (purkinje cell death)
4.Globus Pallidus necrosis ***
(Globus Pallidus shows discoloration signaling a movement disorder)
CO toxicity
Etiology is hypoxia
CO toxicity
Symtoms: HA, dizzy, confusion
CO toxicity
Lesion Location:
-Anterior horn
-Posterior columns
B1/thiamine deficiency: alcoholic polyneuropathy
-Due to thiamine deficiency-->bad nutrition
B1/thiamine deficiency: alcoholic polyneuropathy
-Myelin and axon degeneration in anterior horn
-posterior root degeneration & 2ndary degeneration of posterior columns
B1/thiamine deficiency: alcoholic polyneuropathy
-numbness, paresthesias, weakness
-motor and sensory weakness, mostly distal
B1/thiamine deficiency: alcoholic polyneuropathy
confusion, opthalmoplegia, and ataxia
This classic triad of symptoms occurs in what illness
Wernicke's Encephalopathy
What occurs first, WE or KP?
1.Is WE or KP reversible if given thiamine?
-irreversible, causing memory disturbance and confabulation
Lesion location:
1. periaqueductal gray matter including third nerve nuclei and MLF-->causes opthalmoplegia
2. floor of 4th ventricle including the vestibular nucleus-->causes ataxia
Lesion location:
-mamillary bodies, medial dorsal thalamus-->cause memory deficits and cognitive symptoms
-mamillary body lesions look red b/c of hemorrhage
-small petechial hemorrhages in mamillary bodies
-vascular changes: endothelial prominence & petechial hemorrhages
-neuronal necrosis
-macrophage response & gliosis
B1/thiamine deficiency: WE & KP
Lesion Location:
-spinal cord-thoracic (primary myelin sheaths-->degen axons)-->reversible
-dorsal columns-->involved early
-lateral columns-->corticospinal tract, spinothalamic tract-->contributes leg involvement
Vit B12 deficiency
-Decreased intake, impaired absorption (IF def/pernicious anemia)
-Folic acid: releive anemia (not neuro def)
Vit B12 def
-Motor & sensory degeneration
-Ataxia-->caused by sensory deficits or cerebellar deficits
-Sensory def (numb/tingling)
-Loss of vibration, proprioception, pain
-LE weakens (due to thoracic spinal cord)
-Increased deep tendon reflexes/Babinski signs
Vit B12 deficiency
-Associated with elevated blood ammonia levels-->cause toxicity in brain
-Symptoms: Disturbances in consciousness, motor abnormalities
Hepatic Encephalopathy