77 Questions
What is a key factor in the etiology of neurodegeneration?
Impaired mitochondrial dynamics
Which metal accumulation in the human brain is a causative factor in the induction of oxidative stress?
Copper (Cu)
What does overproduction of reactive oxygen species during oxidative stress lead to?
Neuronal damage
Which primary brain regions are affected in major neurodegenerative diseases?
Spinal cord and Brain stem
What plays a key role in the pathophysiology of Alzheimer's Disease (AD) and Parkinson's Disease (PD)?
Sensitivity of glial cells and neurons to reactive oxygen species
What is identified as a contributing factor to the pathogenesis of neurodegenerative diseases?
Genetic factors
Which of the following is NOT a characteristic of neurodegenerative diseases?
They cause an increase in neuronal activity over time
Which of the following statements about Alzheimer's disease (AD) and Parkinson's disease (PD) is NOT true?
They respond identically to the same treatment for all patients
What is the primary cause of the greatest burden of neurodegenerative diseases?
Dementias
Which of the following statements about the clinical symptoms of neurodegenerative diseases is true?
They start some years before they become clinically apparent
What percentage of dementia cases is represented by Alzheimer's disease?
60-70%
Which of the following is NOT a common symptom associated with neurodegenerative diseases?
Increased appetite
What is the primary function of neurons in the context of neurodegenerative diseases?
To serve as the building blocks of the nervous system
Which of the following statements about the clinical presentation of neurodegenerative diseases is true?
They can present with variable clinical courses
Which of the following regions of the brain and spinal cord are primarily affected in Amyotrophic Lateral Sclerosis (ALS)?
Motor cortex, brain stem, and spinal cord
Which of the following is an approved drug for the treatment of ALS?
Riluzole
Which of the following statements is true regarding the inheritance pattern of Huntington's Disease (HD)?
HD is an autosomal dominant disorder.
On which chromosome is the Huntington's Disease (HD) gene located?
Chromosome 4
If one parent has Huntington's Disease, what is the probability that their child will inherit the disease?
50%
Which of the following statements accurately describes the concept of 'carriers' in relation to Huntington's Disease?
There are no carriers for Huntington's Disease.
What is the primary objective of the 'Personalized Neurology' approach in the context of neurodegenerative diseases?
To identify biomarkers that allow for precise subtyping and targeted therapies.
Which of the following is NOT listed as a potential cause of sporadic Amyotrophic Lateral Sclerosis (ALS)?
Genetic mutations
Which biomarker is considered a direct marker of Aβ pathology?
Plasma P-tau concentrations
What is the most direct biomarker for tangle pathology?
Tau PET
Which biomarker is rich in axons and leaks into CSF and blood during neuroaxonal degeneration?
Neurofilament light (NFL)
What is the best-established imaging biomarker for neurodegeneration?
Volumetric MRI of the brain
Which biomarker is considered a synaptic biomarker?
Neurogranin in CSF
What do CSF and plasma tau concentrations represent as markers?
Response to Aβ pathology
Which marker shows an increase in concentration in tau PET-positive individuals well before detectable tau pathology on PET?
Plasma P-tau concentrations
'SV2A-' and 'Fluorodeoxyglucose (FDG)' are associated with which type of imaging?
'SV2A-' with amyloid positron emission tomography (PET) and 'FDG' with volumetric MRI of the brain
What type of data can NGS technologies collect in relation to neurodegenerative diseases?
Digital genetic data
What is one of the main purposes of conducting differential transcriptome analyses on brain tissue?
Examine protein-coding genes
What is a major focus of personalized or precision medicine?
Customizing medical practice based on genetic tests
How can combining genetic data help in understanding neurological disease mechanisms?
Provide an 'omic' profile of the patients
What type of studies can help identify preclinical disease stages according to the text?
Genome-wide association studies (GWAS)
Which factors are mentioned as non-genetic influences on neurodegenerative evolution?
Nutrition and smoking habits
What technique allows for the examination of non-coding RNAs or splicing events in brain tissue?
Transcriptome analysis
What is the primary goal of using NGS technologies in the context of neurodegenerative diseases?
Generate digital genetic data for molecular signatures
What is the primary consequence when both RB1 genes in a retinal cell are mutated or missing?
The cell will grow unchecked and potentially become cancerous
What is the primary purpose of genetic testing for RB1 mutations in individuals with newly diagnosed retinoblastoma?
All of the above
What is the primary cause of the rapid central vision loss seen in Stargardt disease (STGD1)?
Both a and b
Which of the following is a key characteristic of monogenic macular dystrophies, such as Stargardt disease (STGD1)?
All of the above
What is the primary benefit of intensive monitoring and early diagnosis of high-risk infants with retinoblastoma?
It improves the prognosis for the affected individuals
Which of the following statements about the inheritance pattern of Stargardt disease (STGD1) is correct?
It has an autosomal recessive inheritance pattern
What is the primary mechanism by which the defective ABCA4 protein leads to the development of Stargardt disease (STGD1)?
It causes the accumulation of A2E lipofuscin in retinal pigment epithelium cells
Which of the following is a key characteristic of monogenic macular dystrophies that complicates diagnosis?
Incomplete penetrance and variability in disease expression
What is the main reason for considering genetic testing valuable in the context of genetic eye diseases?
To dictate a treatment and counseling plan based on disease-causing mutations
Which two genetic variants are highlighted as major contributors to age-related macular degeneration (AMD) risk and pathogenesis?
CFH (Y402H) and ARMS2/HTRA1
What provides the greatest genetic contribution to the development risk of age-related macular degeneration (AMD)?
Short nucleotide polymorphism (SNP) associations on chromosomes 1q31 and 10q26
Which technology should ideally not be used as a stand-alone for advancing genomic medicine in the context of genetic eye diseases?
NGS (Next-Generation Sequencing)
What accounts for approximately 70% of the total risk associated with age-related macular degeneration (AMD)?
Genetic variants in AMD
In the context of personalized approaches to diagnosis, what is the primary factor that has provided opportunities for improved clinical diagnosis and personalized interventions?
Increased access to NGS technologies
What is believed to be attributable to 50% of the genetic risk associated with age-related macular degeneration (AMD)?
'Common variants' highlighted in CFH (Y402H) and ARMS2/HTRA1
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?
'Genetic testing'
What is the primary goal of stratifying inherited eye diseases (IEDs) based on phenotypic and genotypic characteristics?
To identify gene-specific phenotypes in genetically heterogeneous monogenic diseases like retinitis pigmentosa (RP)
What is the primary objective of personalized ophthalmology in the context of age-related macular degeneration (AMD)?
To identify endophenotypes within the complex disease of AMD, enabling targeted interventions
Which of the following statements accurately describes the characteristics of inherited retinal diseases (IRDs)?
IRDs are a genetically and phenotypically heterogeneous group of conditions characterized by rod and cone photoreceptor degeneration
Which of the following statements regarding the molecular basis of inherited eye diseases (IEDs) is correct?
Dissecting the molecular basis of IEDs stratifies them into different disease subtypes
Which of the following treatments is mentioned in the text as a potential option for diabetic eye disease?
Laser surgery
What is the approximate number of disease-causing genes that have been identified and mapped for inherited retinal diseases (IRDs)?
Around 250 genes
Which of the following statements regarding the symptoms of diabetic eye disease is correct, based on the information provided in the text?
Individuals with diabetic eye disease may experience blurry vision, double vision, floaters, or dark spots
What is a recommended treatment approach for wet age-related macular degeneration (AMD)?
Treatments aimed at stopping abnormal blood vessel growth and antioxidant supplements
What is the main reason for the need for testing guidelines and counseling infrastructure in eye disease management?
To provide mechanism-specific treatments
Why is accurate phenotyping considered crucial for disease stratification?
To enable diagnostic context-specific data interpretation
What is a key driver for the adoption of personalized approaches in medical research?
The need for translational outputs
Why are many RP patients diagnosed only in mid to late-stage disease despite peripheral vision loss?
Photoreceptor degeneration
Why is it crucial to identify RP patients early for clinical trials?
To maximize the efficacy of treatment
What is the primary challenge posed by the development of targeted therapies for RP patients?
Ethical considerations in patient selection
What impacts the success of clinical trials for RP treatment according to the text?
Early identification of patients for maximal treatment efficacy
Why may changes in diagnostic processes be needed for RP patient management?
To enable early identification and treatment efficacy maximization
What is the primary cause of Best vitelliform macular dystrophy (BVMD)?
Mutations in BEST1
Which gene mutations result in Sorsby fundus dystrophy that resembles neovascular age-related macular degeneration (AMD) with early adulthood onset?
TIMP3
What is the primary characteristic feature seen in Doyne honeycomb retinal degeneration?
Drusen in the macula
Which macular dystrophy is associated with accumulation of lipofuscin as yellowish white flecks?
Doyne honeycomb retinal degeneration
Which gene mutations are known to cause overlapping phenotypes associated with congenital or juvenile glaucoma?
PAX6 and CYP1B1
What is the impact of detecting mutations in glaucoma-related genes on clinical care and genetic counseling?
Allows for appropriate surveillance and timely treatment
What is the presumed mechanism for photoreceptor and RPE dysfunction in Best vitelliform macular dystrophy (BVMD)?
Subretinal fluid accumulation
Explore the expected learning outcomes in personalized medicine within neurology, including different types of neurodegenerative diseases, their causes, and current available treatments. Learn about the approach to personalized neurology by understanding the importance of neurons and how neurodegenerative diseases impact the nervous system.
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