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A comprehensive overview of key concepts and mechanisms related to spinal muscular atrophy (sma), traumatic brain injury (tbi), stroke, and lysosomal storage diseases. It delves into the causes, symptoms, and potential treatments for these neurological conditions, highlighting the role of genetics, stem cell transplantation, and lysosomal function. The document also explores the use of ipscs and brain organoids as models for studying these diseases. It is a valuable resource for students and researchers interested in understanding the complexities of these neurological disorders.
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Spinal muscular atrophy (SMA) -- Answer ✔✔ - serious and typically fatal neurological disease that attacks the nerve cells that control voluntary muscles - only affects lower motor neurons
common initial symptoms of stroke -- Answer ✔✔ There are some symptoms that are quite common in stroke and one of the key symptoms of stroke is it can be quite sudden onset. So sudden problems with vision, blurriness, double vision, sometimes problems with understanding speech or speaking, paralysis of an arm or a leg. exact symptoms is dependent on where in the brain is the blood supply blocked off Strokes - hemorrhagic -- Answer ✔✔ rupture of blood vessels; going to impair the supply of blood downstream from that area where the injury is. But it also has the added problem in that you can have a leakage of that blood into the surrounding tissue and that can put pressure on the tissue. And also there are some quite inflammatory molecules within the blood itself that the brain is not normally exposed to that can promote further damage. Ischemic stroke: embolism -- Answer ✔✔ embolism - where you have a clot that is essentially traveled. It's come loose and traveled up that artery until it becomes lodged blocking off the blood supply to everything above it Ischemic stroke: thrombosis -- Answer ✔✔ a clot that is kind of built up more gradually on the wall of that brain or artery. current treatment of ischemic stroke -- Answer ✔✔ if we can have a way to dissolve that clot, we might be able to restore blood supply to that area of the brain and limit the amount of cell death that occurs tPA - tissue plasminogen activator, and it's essentially a concentrated form of something our own body makes for dissolving clots. And if it's provided soon after the symptoms, typically in less than four and a half hours, it can break up that clot, help to restore some of that blood supply, and reduce the damage What would happen if you treat a hemorrhagic stroke with tPA? -- Answer ✔✔ tPA promotes blood supply so this would make a hemorrhagic rupture worse since you would want clotting to stop the bleeding
why are neurons especially susceptible to lysosomal storage diseases? -- Answer ✔✔ - neurons can't divide and they can't dilute out the accumulating substrates
one-sided conversation repetitive motor mannerisms lack of spontaneous social play Asperger's syndrome: Little professors -- Answer ✔✔ lack of empathy little ability to form friendships one sided convo intense absorption in special interest clumsy movement Birth trauma is a risk factor of autism -- Answer ✔✔ - anemia ~8x
DSM-V has now separated from autism spectrum disorders Fragile X syndrome -- Answer ✔✔ retardation in most, autism like symptoms in some Timothy syndrome -- Answer ✔✔ heart arrhythmia and autism symptoms (developmental delay) mutations in CACNA1C, a subunit of a voltage gated calcium channel Gentamicin - drug discovery using patient iPS cells -- Answer ✔✔ - common antibiotic that is also toxic to certain mammalian sensory cells such as hair cells in inner ear
exhibited increased white matter autofluoresnecne and mylein basic protein (MBP) levels that are strongly correlated exhibit increased accumulation of the disease-associated oligodendrocyte protein Sepina3n within the white matter why is there thicker white matter seen in FIRE mice? -- Answer ✔✔ - no microglia means no myelin turn over - just accumulating
Highly associated with TDP-43 pathology Progranulin (GRN) -- Answer ✔✔ Secreted protein that regulates lysosomal function
60 mutations that result in haploinsufficiency microglia have the highest levels of progranulin in the brain Tau (MAPT) -- Answer ✔✔ Microtubule stabilizing protein Families with mutations nearly always have history of FTD example of disease where two copies of a gene gives you lysosomal storage disease but one copy gives you neurodegenerative disease -- Answer ✔✔ one copy GBA = parkinsons two copies = gauchers what did we see in FTD mice with human iPSC-microglial progenitors? -- Answer ✔✔ - reduced neuropathology