Degenerative Disease Flashcards
Is Prion disease sporadic, heritable, or transmissible?
Trick question: all of the above! There are multiple forms of this disease.
How is the variant form of Creutzfeldt-Jakob different from the regular form in terms of average age of onset and speed of progression?
Younger age at presentation and slower progression
How is Kuru prion disease transmitted?
Cannibalism.. gross
What is the inheritance of Gerstmann-Straussler-Scheinker?
Autosomal dominant
What kind of clinical findings are associated with Gerstmann-Straussler-Scheinker?
Cerebellar findings: clumsiness, incoordination, gait ataxia (myoclonus is absent) - there is much variation in presentation even within one family.
What is the inheritance of Fatal Familial Insomnia?
Autosomal dominant
Which anatomical brain regions are involved in Alzheimer’s?
Cortex and hippocampus
What are the characteristic neuropathological features of Alzheimer’s?
Amyloid plaques and fibrillary tangles
What are the characteristic neuropathological features of Parkinson’s?
Lewy bodies
What are the characteristic neuropathological features of Frontotemporal dementia?
Neurofibrillary tangles (tau protein), ubiquitin inclusions, and Pick bodies
What is the genetic defect of Huntington’s Disease?
CAG repeats on chromosome 4
Which anatomical brain regions are first involved in Parkinson’s?
Substantia nigra
