Flashcards in Neurodegenerative Disorders Deck (30)
Gradual decline in cognitive function that includes memory deficits and behavioral changes
What are some possible causes of dementia?
- Vitamin Deficiency
What are the diseases that primarily affect the cerebral cortex?
- Lewy Body Disease
- Frontotemporal Dementias
What is the most common cause of senile dementia in people over 65?
What genes can lead to the early onset of Alzheimer's disease?
- APP (amyloid precursor protein) on Ch21
- Presenilin 1 and 2
What gene is related to late onset Alzheimer's?
ApoE4 on Ch19
What gene is protective against Alzheimer's?
What will be seen grossly in Alzheimer's?
Hydrocephalus Ex Vacuo
Dilatation of the vacuoles in response to cerebral atrophy
What are the hallmarks of Alzheimer's?
- Neurofibrillary tangles of hyperphosphorylated tau protein
- Amyloid plaques
Amyloid deposition in the walls of arterial vessels in subarachnoid space - seen in most cases of Alzheimer's
What are the symptoms of Lewy Body Disease?
Initial dementia with visual hallucination with parkinsonian symptoms
What is the hallmark of Lewy Body disease?
Lewy Bodies of alpha-synuclein
What are the majority of frontotemproal lobar degenerative diseases linked to?
Mutations in tau protein on Ch17
A type of frontotemporal dementia that is rare
What is the classic presentation of Pick's Disease?
Patients present with aphasia instead of dementia, but will develop memory loss with time
What is generally spared in frontotemporal degeneration?
Superior Temporal Lobe
What are Pick bodies?
Globose neuronal inclusions of tau protein that are deposited in the hippocampus and the cortex
What are some diseases affecting the basal ganglia?
Multiple System Atrophy
Symptoms consist of variable combination of parkinsonism, cerebellar ataxia, and autonomic dysfunction – depend on the neuronal system involved
Werdnig-Hoffmann Disease (SMA Type I)
Autosomal recessive and causes floppy baby syndrome with the degeneration of LMNs
Kugelberg-Walander Disease (SMA Type II)
Similar to Werdnig-Hoffmann but presents at 3 months of age or later and is more mild
SMA Type III
Very rare and similar to Werdnig-Hoffmann but less severe with onset in infancy to early adolescence
What is the cause of all 3 types of spinal muscular atrophy (SMA)?
Mutations in genes SMN1/2 on Ch5
• Autosomal recessive
• Trinucleotide repeat GAA (glutamic acid) in
frataxin gene on Ch9
What is the most common hereditary ataxia?
• oculomotor abnormalities (ophthalmoplegia, nystagmus)
• cerebellar dysfunction
• altered mental status
– Loss of recent memory compensated by confabulation
Subacute Combined Degeneration
Myelin loss in posterior and lateral columns