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19 Cards in this Set

  • Front
  • Back
The accumulation of which protein causes amyloid deposit?
alpha beta (aB)
Parkinson's results from what?
The death of dopamine neurons in the SN.
What are the deposits found in neurons in PD called? What do they consist of?
Lewy bodies. Synuclein.
Prions are infectious protein particles that are responsible for these infectious diseases?
Scrapie and mad cow disease.
What are the clinical signs of AD?
Memory loss, cognitive defects, and dementia
Mutations in the prion gene give rise to what neurodegenerative disorders?
Creutzfield Jakob disease, Gerstmann-Straussler-Scheinker disease, and Fatal Familial Insominia
What are the most vulnerable neurons to AD?
hippocampus, entorhinal cortex, neocortex, and basal forebrain cholinergic system
Where is the amyloid deposit derived from? What cleaves the APP?
APP- amyloid precursor protein. Secretase
How is the dystrophin protein arranged? What is the problem in DMD?
It binds cytoskeletal actin at one end and the dystroglycan/sarcoglycan at the other. Muscle destruction due to instability of this connection and membrane disruption.
Why is Becker MD a milder disorder?
In its mutation, retains the translational reading frame and can produce dystrophin.
Why is Becker MD a milder disorder?
In its mutation, retains the translational reading frame and can produce dystrophin.
How many cases of DMD are new mutations aka somatic mosaics?
What causes Congenital Muscular dystrophy?
Mutations in laminin-2 which is link to the basement membrane of muscle.
What can mutations in the MPZ gene cause?
The same clinical chx's seen in PMP22 mutations.
What do these different variations of CMT affect: HMSN, HSN, and HMN?
Various portions of the nerve. Just the sensory nerve. The motor nerve.
In general, the CMT Type I syndrome are of what inheritance and show what defect?
Dominant and demyelination.
THE CMT Type II disorders are of what inheritance and the defect is seen where?
Dominant; axonal.
The CMT Type IV disorders are of what inheritance and have this fx?
Recessive; demyelination.
What do the affected neurons in AD contain?
tau and ubiquitin with neurofibrillary tangles.