Neurogenetics
Terms
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- 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.
- How many cases of DMD are new mutations aka somatic mosaics?
- 1/3
- 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.