Week 3 Flashcards

Question

What medications are used to treat Parkinson’s symptoms?

Answer 1

Levodopa, dopamine agonists, MAO-B inhibitors, amantadine; anticholinergics for tremor. Side effects include hallucinations, impulse control disorders, nausea.

Answer 2

Wearing off, delayed onset, dyskinesias (involuntary movements), “on-off” fluctuations.

Answer 3

DBS (Deep Brain Stimulation): Electrodes in subthalamic nucleus modulate abnormal signals. LCIG (Duodopa): Gel infusion of levodopa into the small intestine. Apomorphine: Subcutaneous dopamine agonist.

Answer 4

Improved motor symptoms; possible decline in executive function/impulse control; improved sleep/anxiety.

Answer 5

Antidepressants: For mood-related problems. Antipsychotics (e.g. Clozapine): For hallucinations/delusions. Rivastigmine: For cognitive impairment; effective in Parkinson’s disease dementia, debated in MCI.

Answer 6

Multidisciplinary care (especially in advanced stages): Physical/exercise therapy Occupational therapy Speech therapy Dietetics CBT: For anxiety and depression. Cognitive function training/strategies: For cognitive impairment.

Answer 7

Dopaminergic medication often less effective. Highly variable disease course → tailored treatment based on motor/non-motor symptoms, levodopa response, and patient abilities.

Answer 8

Often early onset (even at diagnosis). Frequently affects: Executive functioning Attention Working memory Cognitive flexibility and planning Difficulty with both automatic and controlled actions.

Answer 9

Initially fronto-striatal → later may involve posterior cortical areas. Can affect: Memory (implicit and explicit) Language (complex sentence comprehension, fluency) Visuospatial abilities (navigation, construction, spatial neglect) Social cognition (emotion recognition, Theory of Mind)

Answer 10

Timing of cognitive decline: DLB: Cognitive/neuropsych symptoms before or <1 year after motor symptoms. PDD: Dementia develops later in the disease. Both show: Fluctuations in attention Visual hallucinations Memory retrieval impairment (preserved recognition)

Answer 11

Presence of MCI Older age, longer disease duration Severe motor symptoms PIGD subtype Mood disorders Early memory/visuospatial problems = worse prognosis

Answer 12

Rapid cognitive decline Hallucinations Cognitive fluctuations Relatively mild motor symptoms History of MCI and poor levodopa response

Answer 13

Common and severe, often worse than typical PD Domains affected: Slowed processing Complex attention Memory Language DLB: Severe memory, executive, and visuospatial impairments MSA: Less severe than DLB PSP & CBD: Language disorders, apraxia, visuospatial deficits CBD may mimic FTD cognitive profiles

Answer 14

Level 1: Basic screening by physician Level 2: Full neuropsychological testing (2+ tests per domain); preferred for diagnosing dementia

Answer 15

Depression: Fatigue, anhedonia; less guilt/suicidal behavior Anxiety: Physical tension, internal tremor Apathy: Lack of motivation/initiative Psychosis: Illusions, hallucinations (early: mild; late: complex/frightening) Impulsive-Compulsive Disorders (ICDs): Hypersexuality, gambling, eating, buying, punding, dopamine dysregulation

Answer 16

Depression and anxiety may result from dopaminergic “off” periods. Non-motor fluctuations can exist without motor fluctuations. Can be managed by adjusting dopaminergic medication.

Answer 17

Chronic, progressive neurodegenerative disorder Motor + non-motor symptoms (cognitive, mood, sleep, fatigue) Majority develop dementia Treatment: Medication, paramedical care, possibly neurosurgery Neuropsychologists play key roles in diagnosis and support

Answer 18

: Huntington’s disease is an autosomal dominant, progressive, and incurable brain disorder that typically begins around age 40. It is characterized by motor impairments (e.g., involuntary jerky movements—chorea, reduced voluntary movement—hypokinesia), cognitive decline, and neuropsychiatric symptoms (e.g., mood swings, personality changes). Other symptoms include speech and swallowing difficulties, sleep and body temperature issues, and weight loss. As the disease progresses, all symptoms worsen, leading to complete dependency and eventual death. Average disease duration is 15–20 years, with pneumonia and suicide as the most common causes of death.

Answer 19

Huntington’s disease is hereditary and autosomal dominant—each child of an affected parent has a 50% chance of inheriting the disease. It often affects multiple generations in a family. The disease leads to severe disruptions in social, work, and family life due to its motor, cognitive, and neuropsychiatric symptoms. As symptoms worsen, patients require extensive care, often resulting in nursing home admission. The burden on families is physically and emotionally exhausting. There is no cure, but a multidisciplinary approach can help manage symptoms and improve quality of life for both patients and caregivers.

Answer 20

Huntington’s disease is diagnosed through genetic testing that identifies the number of CAG repeats on the Huntington gene. A higher number of repeats confirms gene carriage. This test can detect whether a person is a carrier even before symptoms appear.

Answer 21

A neurologist makes the clinical diagnosis based on: Characteristic motor symptoms (e.g., chorea), A family history of the disease, And/or a positive genetic test. Emotional, behavioural, and cognitive changes may precede motor symptoms by many years.

Answer 22

According to the DSM-5: 1. The criteria for mild or major neurocognitive disorder must be met. 2. Onset must be insidious with gradual progression. 3. There must be clinically established Huntington’s disease, or risk based on family history/genetic test. 4. Symptoms must not be due to another medical condition or mental disorder.

Answer 23

Huntington’s disease is rare, affecting 5–10 per 100,000 people globally. Most cases develop between ages 30–50. Late-onset may occur after age 60. Juvenile Huntington’s is very rare and begins in childhood. In the Netherlands, approx. 1,200–1,500 people have Huntington’s, and 6,000–9,000 are at risk of carrying the gene.

Answer 24

Huntington’s disease is caused by a CAG repeat expansion in the huntingtin gene on the short arm of chromosome 4. - Fewer than 36 repeats = no disease - 40+ repeats = disease will develop - 36–39 repeats = variable expression - 27–35 = intermediate range; may expand in future generations

Answer 25

The gene mutation causing Huntington’s disease was discovered in 1993 by the Huntington’s Disease Collaborative Research Group. The disease is inherited in an autosomal dominant pattern, meaning a child has a 50% chance of inheriting the mutation from an affected parent.

Answer 26

In 1872, George Huntington, a young American physician, described the clinical features of the disease in families. He highlighted its hereditary nature, late adult onset, and association with psychiatric symptoms. Though others observed it earlier, Huntington's concise description led to the disease bearing his name.

Answer 27

People from affected families may choose genetic testing to determine if they carry the mutation. Since 1995, pre-implantation genetic testing (PGT) with IVF can prevent passing the gene to offspring. However, due to fear, stigma, or emotional burden, some families avoid testing or discussing the disease entirely.

Answer 28

In Huntington’s disease, the mutated huntingtin protein becomes toxic, causing brain cell death—especially in the striatum, cerebral cortex, and subcortical white matter. This leads to brain atrophy, starting in the basal ganglia, particularly the caudate nucleus and putamen, which are critical for movement and cognitive processing.

Answer 29

Wild-type huntingtin is a multifunctional protein that supports neuronal transport and communication and is neuroprotective. It is essential for brain development and healthy functioning. In Huntington’s disease, the mutated form causes toxicity rather than protection.

Answer 30

Treatment is multidisciplinary and aims to relieve symptoms and improve quality of life. This includes pharmacological therapies for neuropsychiatric and motor symptoms, and non-pharmacological support such as physiotherapy, occupational therapy, speech therapy, and psychological interventions like CBT and ACT.

Answer 31

- Neuropsychiatric symptoms: SSRIs (e.g., for depression) and neuroleptics (for mood or behavior). - Motor symptoms: Drugs like tetrabenazine or neuroleptics to modulate dopaminergic transmission. These treatments aim to ease symptoms but do not alter disease progression.

Answer 32

A noticeable slowing of information processing speed is often present early on—even after accounting for motor impairments. Tasks like the Stroop Test and Trail Making Test help reveal these deficits, which may not be immediately visible to others.

Answer 33

Patients often struggle with executive control of attention, not attention itself. They may show poor self-awareness, impulsiveness, and difficulty regulating behavior. Problems with planning, initiation, and flexibility (e.g., switching tasks or thoughts) lead to apathy and a heavy reliance on family caregivers.

Answer 34

Many patients have limited insight into their condition and underestimate its impact. Involuntary movements may be egosyntonic—perceived as normal rather than pathological—making the disease feel like part of their identity rather than something separate or disruptive.

Answer 35

Even before motor symptoms appear, patients may have trouble recognizing emotions and understanding others’ perspectives (Theory of Mind). This can lead to conflicts, reduced empathy, and significant strain in relationships, often becoming a predictor of disease onset.

Answer 36

In early stages, memory deficits are not very noticeable, but over time, patients struggle with learning and retaining new information, even beyond attention and executive issues. Eventually, both retention and semantic memory (facts and general knowledge) deteriorate, affecting recognition and recall.

Answer 37

Communication problems stem from cognitive deficits like slowed processing, poor attention, and working memory decline. Speech is further disrupted by motor symptoms (e.g., dysarthria) and eventually slows and becomes limited. In advanced stages, this may lead to mutism, making verbal expression nearly impossible.

Answer 38

Patients may struggle with visual perception (especially motion, color, and space). This is due to retinal thinning, cell loss, and atrophy in the visual cortex, affecting how visual information is processed and understood.

Answer 39

Depression, apathy, and anxiety are early and persistent symptoms. Suicidal thoughts affect 1 in 5 patients. Depression may decline as the disease progresses, but apathy increases, severely affecting quality of life. Other symptoms include compulsive behavior, irritability, aggression, and even psychosis, which correlates with more severe cognitive issues.

Answer 40

Behavioral disinhibition—like impulsivity and inappropriate social behavior—often emerges due to frontotemporal lobe damage. Patients may lack insight into their actions, leading to risky behaviors such as dangerous driving, conflict escalation, or impulsive decisions. This significantly increases stress for caregivers and loved ones.

Answer 41

Huntington’s is marked by both excess movements (like chorea) and reduced voluntary movement (hypokinesia). Additional signs include bradykinesia, dystonia, rigidity, and difficulties with eye movements, posture, balance, and swallowing. These motor symptoms are often the most recognizable clinical features of the disease.

Answer 42

Most patients suffer from chewing and swallowing issues (dysphagia), increasing the risk of choking and aspiration pneumonia, a major cause of death. There's also unintentional weight loss due to high energy demands. Autonomic dysfunction affects temperature regulation, heart rate, digestion, and sweating. Despite experiencing pain, many patients perceive it less acutely. Fatigue and disrupted sleep patterns are also common.

Answer 43

Even before motor symptoms emerge, subtle cognitive and emotional changes can cause decline in work, finances, and driving. Most individuals stop working by age 47 due to burnout and reduced function. As the disease progresses, symptoms like apathy, disinhibition, and agitation severely disrupt independence, social life, and family dynamics, often requiring specialized long-term care.

Answer 44

In the Netherlands and globally, specialized centers coordinate care and research. The HKNN network fosters national collaboration, while initiatives like ENROLL enable international research. Ongoing studies focus on biomarkers for early detection and pharmaceutical interventions to delay onset in gene carriers. Clinicians and researchers also collaborate on evidence-based guidelines for care across all disease stages.

Answer 45

Because the disease involves motor, cognitive, neuropsychiatric, and social domains, treatment requires coordinated input from neurologists, psychologists, therapists, and social workers. This team-based approach ensures care is comprehensive and tailored, supporting both patients and their families as the disease progresses.

Answer 46

MS is a chronic neurological disease marked by inflammation and neurodegeneration in the central nervous system (brain and spinal cord). This disrupts signal transmission, leading to potential functional loss. It affects around 2.8 million people worldwide, with a 2:1 female-to-male ratio, and is typically diagnosed between ages 20–40, making it the most common neurological disorder in young adults. Rarely, it can also occur in children (1.5%).

Answer 47

MS is multifactorial in origin. Contributing factors include vitamin D deficiency, childhood obesity, smoking, and Epstein-Barr virus infection. Although not genetic, family history increases risk—children of parents with MS are 10–15x more likely to develop it. Twin studies show a 20–30% concordance in identical twins, and 2–5% in fraternal twins.

Answer 48

The key pathological processes are demyelination, inflammation, and neurodegeneration. Demyelination disrupts signal transmission, and lesions are visible on MRI. Inflammation, often linked with relapses, results from an autoimmune attack involving T- and B-cells. Two hypotheses exist: Outside-in: Immune response is primary. Inside-out: Myelin loosens first, triggering immune response.

Answer 49

While once thought to be a white matter disease, MS also affects grey matter, with lesions and demyelination in both. Neurodegeneration occurs in both areas and becomes more pronounced in progressive stages. MRI may show brain atrophy (especially in cortex, thalamus, and hippocampus). This degeneration contributes significantly to severe symptoms and cognitive decline.

Answer 50

1. Relapsing-Remitting MS (RRMS) – 85% of cases; flare-ups followed by (near) full recovery. 2. Secondary Progressive MS (SPMS) – RRMS that later progresses to a steady decline without relapses. 3. Primary Progressive MS (PPMS) – 12% of cases; gradual decline from onset, no relapses. 4. Progressive Relapsing MS (PRMS) – Rare; steady decline with relapses from the start. 5. Clinically Isolated Syndrome (CIS) – A single symptomatic episode; ⅓ remain isolated, ⅔ progress to MS.

Answer 51

People with MS have a 7.5-year shorter life expectancy than the general population (75.9 vs. 83.4 years). Disability gradually increases, and complications like urinary tract infections can become fatal. MS strikes in young adulthood, often during career and family-building years, severely impacting quality of life and social participation.

Answer 52

The extent and location of brain damage vary widely across individuals, making the symptoms and progression of MS unpredictable. Even with imaging and classification, the individual course remains difficult to forecast.

Answer 53

- Common symptoms: acute visual impairments (optic neuritis), sensory impairments, motor impairment, bladder and bowel dysfunction, spasms, pain, sexual dysfunction, cognitive impairments, and fatigue. - Fatigue is one of the most common and disabling symptoms, affecting over 80% of people with MS.

Answer 54

- Dissemination in time: Multiple episodes (relapses) of physical symptoms over time. - Dissemination in place: Symptoms caused by damage in at least two different locations in the brain or spinal cord. - For primary progressive MS (PPMS): Same principles apply, but without distinct episodes.

Answer 55

Repeated brief cognitive screening is recommended for all MS patients to detect early cognitive decline. If cognitive complaints arise, an extensive neuropsychological exam is done, including tests for: - Information processing speed - Learning and memory - Attention - Executive function - Visuospatial perception - Word fluency - Assessment always includes evaluation of fatigue and mood (anxiety, depression), often via questionnaires.

Answer 56

Visualizes white matter abnormalities (lesions, demyelination) and their location. Shows cumulative increase in lesions over time, reflecting disease progression. Detects active inflammation during relapses using T1-weighted scans with contrast agents (gadolinium). Monitors neurodegeneration signs like brain atrophy.

Answer 57

A contrast agent containing iron particles (gadolinium) is injected. Normally, the blood-brain barrier prevents contrast entry. During acute inflammation, the blood-brain barrier opens, allowing contrast to leak into the brain. MRI detects these iron particles, highlighting active lesions. Active inflammation typically lasts 4–6 weeks before the barrier recovers.

Answer 58

Extensive cerebral cortex atrophy (visible as dilation of spaces between brain folds). Enlargement of brain ventricles. Atrophy of deep grey matter structures, especially the thalamus. Grey matter lesions occur but are harder to detect with standard MRI and not routinely evaluated in many hospitals.

Answer 59

Disease-modifying treatments primarily aim to inhibit the inflammatory component of MS, reducing relapses by 29 to 68%. There are over 10 DMT options today, such as interferon, fingolimod, and ocrelizumab, each with varying effectiveness and side effects. More effective treatments often carry more severe side effects. However, these therapies mainly target inflammation and do not adequately address the neurodegenerative aspects of MS, which are responsible for progression and cognitive decline.

Answer 60

Besides disease-modifying therapies, medications are used to manage specific MS symptoms like fatigue, sleep disturbances, numbness, and spasms. Some symptom treatments (e.g., baclofen for spasms or medicinal cannabis for pain) can negatively impact cognitive function. Since cognitive decline is linked to neurodegeneration, which current DMTs do not effectively treat, cognitive impairment is generally not a reason to change DMT. When assessing cognition in MS patients, medication effects must be carefully considered.

Answer 61

Cognitive impairment affects approximately 43 to 65% of people with MS, often first showing as slowed information processing and memory difficulties. Attention and executive function deficits tend to appear later in the disease. Cognitive problems significantly impact daily functioning, especially work ability, with about 65% of MS patients becoming unable to work within five years of diagnosis. Early identification and monitoring of cognitive symptoms are crucial, with support from neuropsychologists or occupational therapists recommended.

Answer 62

Cognitive impairment occurs at all MS stages and can be an initial symptom. It is more frequent and severe in secondary progressive MS (SPMS) compared to relapsing-remitting MS (RRMS), where inflammation dominates and neurodegeneration is minimal early on. In SPMS, neurodegeneration (brain atrophy) increases, worsening cognitive impairment. Primary progressive MS (PPMS) typically shows less brain involvement and milder cognitive impairment, though it may develop later.

Answer 63

Men are less likely than women to develop MS, but when affected, men experience faster disease progression and neurodegeneration, leading to quicker cognitive decline. However, the pattern of cognitive impairment is similar between men and women.

Answer 64

Cognitive impairment in MS is usually subtle and slowly progressive, with some patients showing stable cognition early on and about 25% experiencing decline. In the secondary progressive phase, cognitive decline often worsens. Around 5-10% may develop Major Neurocognitive Disorder, but dementia is rare in MS. Cognitive relapses—acute, temporary cognitive impairments without physical symptoms—can also occur, often going unrecognized and requiring time for recovery.

Answer 65

The clinical-radiological paradox in MS refers to the mismatch where some people show extensive brain damage on MRI but perform well cognitively, while others have severe cognitive impairment despite limited brain damage. This is explained by cognitive (brain) reserve—the brain's ability to compensate for damage. Higher education and cognitive reserve can delay cognitive impairment, but once reserve is depleted, cognitive decline becomes apparent.

Answer 66

In MS, cognitive impairment can affect all domains, but deficits in information processing speed and memory often occur first and most frequently.

Answer 67

Information processing speed depends on intact signal transmission between neurons, which requires healthy myelin (white matter). MS causes demyelination of white matter early on, leading to cognitive slowing. However, cognitive decline usually occurs only when over 75% of white matter is damaged, due to protective brain reserve.

Answer 68

People with MS most commonly have problems with learning (encoding) new information rather than retrieving it. Slowed information processing speed limits the amount of new information learned, especially in tasks with a time component.

Answer 69

Hippocampal damage in MS includes demyelination, lesions, and atrophy, leading to memory impairments. Advanced MRI shows these abnormalities, and greater hippocampal damage correlates with more severe memory problems.

Answer 70

Beyond processing speed and memory, many people with MS show deficits in attention (20-50% in complex tasks), executive functions (15-25%), verbal fluency (20-25%), visuospatial functioning (12-19%), and social cognition (impaired emotion recognition and Theory of Mind). MS symptoms like impaired hand function and vision can complicate testing and interpretation.

Answer 71

Intellectual reasoning and language comprehension often remain relatively unaffected in MS, showing resilience to MS-related brain damage.

Answer 72

Fatigue affects over 80% of people with MS. Anxiety and depression occur in 20-30%, while pain symptoms affect 26-86%. These symptoms are common but often underrecognized and untreated.

Answer 73

Cognitive impairment, especially executive dysfunction, can limit problem-solving, mental flexibility, and planning. This reduced adaptability makes it harder to cope actively with MS challenges, increasing the risk of developing depression.

Answer 74

Fatigue, mood problems, and pain often co-occur with cognitive complaints but don’t always reflect true cognitive impairment. Informant reports and thorough assessment help differentiate symptoms for accurate diagnosis and treatment, which can improve perceived cognition.

Answer 75

Cognitive impairments in MS are common, often more disabling than physical symptoms, and not always recognized as disease-related by patients. Regular inquiry and follow-up help with early detection, support maintaining work, social relationships, and overall quality of life. Neuropsychologists play a key role in this process.

Week 3 Flashcards

Chapter 21, chapter 22, chapter 23 (100 cards)