Neuro (Week 1) Neurogenetic Disorders 0.0 / 5 ? MedicineMedicineUniversityAll boards Created by: SteffersCreated on: 30-09-20 16:41 What causes Poly-Q disease? CAG nucleotide repeats 1 of 17 What diseases are a result of CAG nucleotide repeat expansions? Huntington’s disease 2 of 17 What is the typical mode of inheritance of Poly-Q disease? Autosomal Dominant 3 of 17 Non Poly-Q disease also involves repeats of CAG nucleotides False - They involve any other triplet except CAG 4 of 17 What diseases are associated with Non Poly-Q disease and what is their mode of inheritance? Myotonic dystrophy (Type I), Autosomal Dominant 5 of 17 What best describes ‘Anticipation’ Expansion of the trinucleotide region causing severe phenotype in subsequent generations 6 of 17 Huntington’s disease is not associated with haploinsufficiency, why? Huntington’s is a toxic gain of function 7 of 17 ‘Gene silencing’ is a new technique being developed as a potential therapeutic to which disease? Huntington’s disease 8 of 17 How does ‘gene silencing’ work? Anti-sense oligonucleotides in reverse sequences to DNA/RNA 9 of 17 What are the two types of genes that contribute to mitochondrial function? Mitochondrial and nuclear 10 of 17 Why are mitochondrial genes only inherited from the mother? Sperm does not transfer any cytoplasmic genetic information 11 of 17 Common manifestations of mitochondrial disease Myopathy, Encephalopathy, Diabetes 12 of 17 ‘Gowers sign’ is the typical clinical indication of which disease? Muscular dystrophy 13 of 17 Which diseases can mimic the clinical presentation found in Idiopathic Parkinson’s? Multiple System Atrophy & Progressive Supranuclear Gaze Palsy 14 of 17 Pes Cavus occurs in which typical neuropathy Peripheral 15 of 17 Autosomal Recessive diseases are almost always associated with the dysfunction of... Enzymes 16 of 17 Why are some genetic disorders not considered to be ‘congenital’ Gene products involved in functions that are not apparent at birth 17 of 17
Comments
No comments have yet been made