Personalized Medicine in Neurology Learning Outcomes
77 Questions
0 Views

Choose a study mode

Play Quiz
Study Flashcards
Spaced Repetition
Chat to lesson

Podcast

Play an AI-generated podcast conversation about this lesson

Questions and Answers

What is a key factor in the etiology of neurodegeneration?

  • Excessive vitamin C intake
  • Impaired mitochondrial dynamics (correct)
  • Overproduction of vitamin D
  • High levels of glucose in the blood

    • Which metal accumulation in the human brain is a causative factor in the induction of oxidative stress?

  • Carbon (C)
  • Gold (Au)
  • Sodium (Na)
  • Copper (Cu) (correct)

    • What does overproduction of reactive oxygen species during oxidative stress lead to?

  • Improved cognitive function
  • Decreased heart rate
  • Neuronal damage (correct)
  • Better muscle coordination

    • Which primary brain regions are affected in major neurodegenerative diseases?

    <p>Spinal cord and Brain stem</p> Signup and view all the answers

    What plays a key role in the pathophysiology of Alzheimer's Disease (AD) and Parkinson's Disease (PD)?

    <p>Sensitivity of glial cells and neurons to reactive oxygen species</p> Signup and view all the answers

    What is identified as a contributing factor to the pathogenesis of neurodegenerative diseases?

    <p>Genetic factors</p> Signup and view all the answers

    Which of the following is NOT a characteristic of neurodegenerative diseases?

    <p>They cause an increase in neuronal activity over time</p> Signup and view all the answers

    Which of the following statements about Alzheimer's disease (AD) and Parkinson's disease (PD) is NOT true?

    <p>They respond identically to the same treatment for all patients</p> Signup and view all the answers

    What is the primary cause of the greatest burden of neurodegenerative diseases?

    <p>Dementias</p> Signup and view all the answers

    Which of the following statements about the clinical symptoms of neurodegenerative diseases is true?

    <p>They start some years before they become clinically apparent</p> Signup and view all the answers

    What percentage of dementia cases is represented by Alzheimer's disease?

    <p>60-70%</p> Signup and view all the answers

    Which of the following is NOT a common symptom associated with neurodegenerative diseases?

    <p>Increased appetite</p> Signup and view all the answers

    What is the primary function of neurons in the context of neurodegenerative diseases?

    <p>To serve as the building blocks of the nervous system</p> Signup and view all the answers

    Which of the following statements about the clinical presentation of neurodegenerative diseases is true?

    <p>They can present with variable clinical courses</p> Signup and view all the answers

    Which of the following regions of the brain and spinal cord are primarily affected in Amyotrophic Lateral Sclerosis (ALS)?

    <p>Motor cortex, brain stem, and spinal cord</p> Signup and view all the answers

    Which of the following is an approved drug for the treatment of ALS?

    <p>Riluzole</p> Signup and view all the answers

    Which of the following statements is true regarding the inheritance pattern of Huntington's Disease (HD)?

    <p>HD is an autosomal dominant disorder.</p> Signup and view all the answers

    On which chromosome is the Huntington's Disease (HD) gene located?

    <p>Chromosome 4</p> Signup and view all the answers

    If one parent has Huntington's Disease, what is the probability that their child will inherit the disease?

    <p>50%</p> Signup and view all the answers

    Which of the following statements accurately describes the concept of 'carriers' in relation to Huntington's Disease?

    <p>There are no carriers for Huntington's Disease.</p> Signup and view all the answers

    What is the primary objective of the 'Personalized Neurology' approach in the context of neurodegenerative diseases?

    <p>To identify biomarkers that allow for precise subtyping and targeted therapies.</p> Signup and view all the answers

    Which of the following is NOT listed as a potential cause of sporadic Amyotrophic Lateral Sclerosis (ALS)?

    <p>Genetic mutations</p> Signup and view all the answers

    Which biomarker is considered a direct marker of Aβ pathology?

    <p>Plasma P-tau concentrations</p> Signup and view all the answers

    What is the most direct biomarker for tangle pathology?

    <p>Tau PET</p> Signup and view all the answers

    Which biomarker is rich in axons and leaks into CSF and blood during neuroaxonal degeneration?

    <p>Neurofilament light (NFL)</p> Signup and view all the answers

    What is the best-established imaging biomarker for neurodegeneration?

    <p>Volumetric MRI of the brain</p> Signup and view all the answers

    Which biomarker is considered a synaptic biomarker?

    <p>Neurogranin in CSF</p> Signup and view all the answers

    What do CSF and plasma tau concentrations represent as markers?

    <p>Response to Aβ pathology</p> Signup and view all the answers

    Which marker shows an increase in concentration in tau PET-positive individuals well before detectable tau pathology on PET?

    <p>Plasma P-tau concentrations</p> Signup and view all the answers

    'SV2A-' and 'Fluorodeoxyglucose (FDG)' are associated with which type of imaging?

    <p>'SV2A-' with amyloid positron emission tomography (PET) and 'FDG' with volumetric MRI of the brain</p> Signup and view all the answers

    What type of data can NGS technologies collect in relation to neurodegenerative diseases?

    <p>Digital genetic data</p> Signup and view all the answers

    What is one of the main purposes of conducting differential transcriptome analyses on brain tissue?

    <p>Examine protein-coding genes</p> Signup and view all the answers

    What is a major focus of personalized or precision medicine?

    <p>Customizing medical practice based on genetic tests</p> Signup and view all the answers

    How can combining genetic data help in understanding neurological disease mechanisms?

    <p>Provide an 'omic' profile of the patients</p> Signup and view all the answers

    What type of studies can help identify preclinical disease stages according to the text?

    <p>Genome-wide association studies (GWAS)</p> Signup and view all the answers

    Which factors are mentioned as non-genetic influences on neurodegenerative evolution?

    <p>Nutrition and smoking habits</p> Signup and view all the answers

    What technique allows for the examination of non-coding RNAs or splicing events in brain tissue?

    <p>Transcriptome analysis</p> Signup and view all the answers

    What is the primary goal of using NGS technologies in the context of neurodegenerative diseases?

    <p>Generate digital genetic data for molecular signatures</p> Signup and view all the answers

    What is the primary consequence when both RB1 genes in a retinal cell are mutated or missing?

    <p>The cell will grow unchecked and potentially become cancerous</p> Signup and view all the answers

    What is the primary purpose of genetic testing for RB1 mutations in individuals with newly diagnosed retinoblastoma?

    <p>All of the above</p> Signup and view all the answers

    What is the primary cause of the rapid central vision loss seen in Stargardt disease (STGD1)?

    <p>Both a and b</p> Signup and view all the answers

    Which of the following is a key characteristic of monogenic macular dystrophies, such as Stargardt disease (STGD1)?

    <p>All of the above</p> Signup and view all the answers

    What is the primary benefit of intensive monitoring and early diagnosis of high-risk infants with retinoblastoma?

    <p>It improves the prognosis for the affected individuals</p> Signup and view all the answers

    Which of the following statements about the inheritance pattern of Stargardt disease (STGD1) is correct?

    <p>It has an autosomal recessive inheritance pattern</p> Signup and view all the answers

    What is the primary mechanism by which the defective ABCA4 protein leads to the development of Stargardt disease (STGD1)?

    <p>It causes the accumulation of A2E lipofuscin in retinal pigment epithelium cells</p> Signup and view all the answers

    Which of the following is a key characteristic of monogenic macular dystrophies that complicates diagnosis?

    <p>Incomplete penetrance and variability in disease expression</p> Signup and view all the answers

    What is the main reason for considering genetic testing valuable in the context of genetic eye diseases?

    <p>To dictate a treatment and counseling plan based on disease-causing mutations</p> Signup and view all the answers

    Which two genetic variants are highlighted as major contributors to age-related macular degeneration (AMD) risk and pathogenesis?

    <p>CFH (Y402H) and ARMS2/HTRA1</p> Signup and view all the answers

    What provides the greatest genetic contribution to the development risk of age-related macular degeneration (AMD)?

    <p>Short nucleotide polymorphism (SNP) associations on chromosomes 1q31 and 10q26</p> Signup and view all the answers

    Which technology should ideally not be used as a stand-alone for advancing genomic medicine in the context of genetic eye diseases?

    <p>NGS (Next-Generation Sequencing)</p> Signup and view all the answers

    What accounts for approximately 70% of the total risk associated with age-related macular degeneration (AMD)?

    <p>Genetic variants in AMD</p> Signup and view all the answers

    In the context of personalized approaches to diagnosis, what is the primary factor that has provided opportunities for improved clinical diagnosis and personalized interventions?

    <p>Increased access to NGS technologies</p> Signup and view all the answers

    What is believed to be attributable to 50% of the genetic risk associated with age-related macular degeneration (AMD)?

    <p>'Common variants' highlighted in CFH (Y402H) and ARMS2/HTRA1</p> Signup and view all the answers

    Which is considered particularly valuable in the context of genetic eye diseases when a treatment plan is determined by the presence of a disease-causing mutation?

    <p>'Genetic testing'</p> Signup and view all the answers

    What is the primary goal of stratifying inherited eye diseases (IEDs) based on phenotypic and genotypic characteristics?

    <p>To identify gene-specific phenotypes in genetically heterogeneous monogenic diseases like retinitis pigmentosa (RP)</p> Signup and view all the answers

    What is the primary objective of personalized ophthalmology in the context of age-related macular degeneration (AMD)?

    <p>To identify endophenotypes within the complex disease of AMD, enabling targeted interventions</p> Signup and view all the answers

    Which of the following statements accurately describes the characteristics of inherited retinal diseases (IRDs)?

    <p>IRDs are a genetically and phenotypically heterogeneous group of conditions characterized by rod and cone photoreceptor degeneration</p> Signup and view all the answers

    Which of the following statements regarding the molecular basis of inherited eye diseases (IEDs) is correct?

    <p>Dissecting the molecular basis of IEDs stratifies them into different disease subtypes</p> Signup and view all the answers

    Which of the following treatments is mentioned in the text as a potential option for diabetic eye disease?

    <p>Laser surgery</p> Signup and view all the answers

    What is the approximate number of disease-causing genes that have been identified and mapped for inherited retinal diseases (IRDs)?

    <p>Around 250 genes</p> Signup and view all the answers

    Which of the following statements regarding the symptoms of diabetic eye disease is correct, based on the information provided in the text?

    <p>Individuals with diabetic eye disease may experience blurry vision, double vision, floaters, or dark spots</p> Signup and view all the answers

    What is a recommended treatment approach for wet age-related macular degeneration (AMD)?

    <p>Treatments aimed at stopping abnormal blood vessel growth and antioxidant supplements</p> Signup and view all the answers

    What is the main reason for the need for testing guidelines and counseling infrastructure in eye disease management?

    <p>To provide mechanism-specific treatments</p> Signup and view all the answers

    Why is accurate phenotyping considered crucial for disease stratification?

    <p>To enable diagnostic context-specific data interpretation</p> Signup and view all the answers

    What is a key driver for the adoption of personalized approaches in medical research?

    <p>The need for translational outputs</p> Signup and view all the answers

    Why are many RP patients diagnosed only in mid to late-stage disease despite peripheral vision loss?

    <p>Photoreceptor degeneration</p> Signup and view all the answers

    Why is it crucial to identify RP patients early for clinical trials?

    <p>To maximize the efficacy of treatment</p> Signup and view all the answers

    What is the primary challenge posed by the development of targeted therapies for RP patients?

    <p>Ethical considerations in patient selection</p> Signup and view all the answers

    What impacts the success of clinical trials for RP treatment according to the text?

    <p>Early identification of patients for maximal treatment efficacy</p> Signup and view all the answers

    Why may changes in diagnostic processes be needed for RP patient management?

    <p>To enable early identification and treatment efficacy maximization</p> Signup and view all the answers

    What is the primary cause of Best vitelliform macular dystrophy (BVMD)?

    <p>Mutations in BEST1</p> Signup and view all the answers

    Which gene mutations result in Sorsby fundus dystrophy that resembles neovascular age-related macular degeneration (AMD) with early adulthood onset?

    <p>TIMP3</p> Signup and view all the answers

    What is the primary characteristic feature seen in Doyne honeycomb retinal degeneration?

    <p>Drusen in the macula</p> Signup and view all the answers

    Which macular dystrophy is associated with accumulation of lipofuscin as yellowish white flecks?

    <p>Doyne honeycomb retinal degeneration</p> Signup and view all the answers

    Which gene mutations are known to cause overlapping phenotypes associated with congenital or juvenile glaucoma?

    <p>PAX6 and CYP1B1</p> Signup and view all the answers

    What is the impact of detecting mutations in glaucoma-related genes on clinical care and genetic counseling?

    <p>Allows for appropriate surveillance and timely treatment</p> Signup and view all the answers

    What is the presumed mechanism for photoreceptor and RPE dysfunction in Best vitelliform macular dystrophy (BVMD)?

    <p>Subretinal fluid accumulation</p> Signup and view all the answers

    More Like This

    Use Quizgecko on...
    Browser
    Open
    Browser
    Browser