Neurodegenerative Diseases — MCQs
A 60-year old female presented with decreased movements for the last 2 years with rigidity and vertical large square wave jerks. The most likely diagnosis is?
Biochemical etiology of Alzheimer's disease relates to:
A 78-year-old woman presents with a progressive decline in daily activity. She gives a history of convulsions and visual hallucinations. She does not talk to anyone and keeps looking at the sky. Pathological examination shows the presence of Lewy bodies within the neurons. What is the most probable diagnosis?
What is the characteristic histological appearance of brain in Creutzfeldt-Jakob disease?
In Huntington's chorea, which of the following is not typically associated?
Which of the following statements regarding Huntington’s chorea is true?
Which condition is characterized by spongiform degeneration of the cerebral cortex?
Neurofibrillary tangles are associated with:
An elderly man has become progressively unable to live independently over the past several years, requiring assistance with daily activities. He has no motor or sensory deficits on physical examination, but is unable to give the current date or state his location. At autopsy, a large superficial left parietal lobe hemorrhage is found, along with numerous neocortical neuritic plaques and neurofibrillary tangles in the brain. Which mechanism is most likely responsible for his disease?
Loss of striatal fibres in caudate nucleus is associated with?
Neurodegenerative Diseases Indian Medical PG Practice Questions and MCQs
Question 1: A 60-year old female presented with decreased movements for the last 2 years with rigidity and vertical large square wave jerks. The most likely diagnosis is?
- A. Parkinson's disease
- B. Lewy body dementia
- C. Multisystem atrophy
- D. Progressive supranuclear palsy (Correct Answer)
Explanation: ### Progressive supranuclear palsy - The combination of **decreased movements**, **rigidity**, and especially **vertical large square wave jerks** is highly characteristic of progressive supranuclear palsy (PSP). - **Vertical gaze palsy** is a cardinal feature, and square wave jerks are often an early sign preceding overt gaze limitation. *Parkinson's disease* - While it presents with **bradykinesia** (decreased movements) and rigidity [1], [2], features like **vertical large square wave jerks** are not typical. - Parkinson's is primarily characterized by **resting tremor**, **postural instability**, and often a good response to levodopa [1]. *Lewy body dementia* - This condition presents with **cognitive fluctuations**, **recurrent visual hallucinations**, and **spontaneous parkinsonism**, but **vertical large square wave jerks** are not a defining feature. - The parkinsonism in LBD is typically milder than in Parkinson's disease. *Multisystem atrophy* - MSA is characterized by parkinsonism, cerebellar ataxia, and autonomic dysfunction (**orthostatic hypotension**, **urinary incontinence**), but **vertical large square wave jerks** are not a core diagnostic criterion. - The rigidity in MSA is often less responsive to levodopa compared to Parkinson's.
Question 2: Biochemical etiology of Alzheimer's disease relates to:
- A. Dopamine
- B. Acetylcholine (Correct Answer)
- C. GABA
- D. Serotonin
Explanation: ***Acetylcholine*** - Alzheimer's disease is significantly associated with a **reduction in cholinergic neuronal activity** in the brain, impacting memory and learning. - Medications for Alzheimer's disease often aim to **increase acetylcholine levels** or prevent its breakdown (e.g., cholinesterase inhibitors). *Dopamine* - **Dopamine deficits** are primarily associated with **Parkinson's disease**, affecting motor control and movement. - While dopamine may play a minor role, it is **not considered the primary biochemical etiology** of Alzheimer's. *GABA* - **GABA (gamma-aminobutyric acid)** is the main inhibitory neurotransmitter in the brain and is often associated with anxiety disorders and epilepsy. - While GABAergic system changes can occur in Alzheimer's, they are **secondary to the primary cholinergic dysfunction**. *Serotonin* - **Serotonin** is widely known for its role in mood, sleep, and appetite regulation, and its imbalances are linked to depression and anxiety. - While some **serotonergic changes** can be observed in Alzheimer's disease, the primary biochemical deficit is not serotonin.
Question 3: A 78-year-old woman presents with a progressive decline in daily activity. She gives a history of convulsions and visual hallucinations. She does not talk to anyone and keeps looking at the sky. Pathological examination shows the presence of Lewy bodies within the neurons. What is the most probable diagnosis?
- A. Prion disease
- B. Huntington's disease
- C. Lewy body dementia (Correct Answer)
- D. Alzheimer's disease
Explanation: ***Lewy body dementia*** - The presence of **progressive cognitive decline**, **visual hallucinations**, and **convulsions** in an elderly patient is highly indicative of Lewy body dementia. - The definitive pathological finding of **Lewy bodies** within neurons confirms the diagnosis. *Prion disease* - Characterized by rapidly progressive dementia, **myoclonus**, and cerebellar ataxia, without typical visual hallucinations or convulsions. - Pathological examination typically shows **spongiform changes** and accumulation of abnormal prion protein, not Lewy bodies. *Huntington's disease* - Presents with a classic triad of **motor dysfunction** (chorea), psychiatric symptoms, and cognitive decline, typically with an earlier onset (30-50 years). - It is an inherited neurodegenerative disorder, and its pathology involves neuronal loss in the striatum, without Lewy bodies. *Alzheimer's disease* - The most common cause of dementia, characterized by **memory impairment** as an early and prominent feature. - Pathological findings include **amyloid plaques** and **neurofibrillary tangles**, not Lewy bodies, and visual hallucinations are less common or occur later in the disease.
Question 4: What is the characteristic histological appearance of brain in Creutzfeldt-Jakob disease?
- A. Neuronophagia
- B. Demyelination
- C. Microabscess
- D. Spongiform change in brain (Correct Answer)
Explanation: ***Spongiform change in brain*** - **Spongiform change** or **vacuolation** describes the characteristic microscopic appearance of the brain in Creutzfeldt-Jakob disease (CJD), where numerous small vacuoles are seen within the neuropil, giving it a sponge-like appearance [1]. - This change is due to neuronal loss and the accumulation of **prion protein (PrPSc)** aggregates, leading to dysfunctional neurons and astrogliosis [1]. *Neuronophagia* - **Neuronophagia** refers to the engulfment and destruction of degenerating neurons by microglial cells. - While it can be seen in various neurodegenerative and inflammatory conditions, it is not the *characteristic* and definitive histological hallmark of CJD. *Demyelination* - **Demyelination** is the loss of the myelin sheath surrounding nerve fibers, leading to impaired nerve impulse conduction [1]. - This is characteristic of diseases like **multiple sclerosis** but is not a primary pathological feature of CJD [1]. *Microabscess* - **Microabscesses** are small collections of inflammatory cells, typically neutrophils, and necrotic debris. - They are characteristic of bacterial or fungal infections within the central nervous system, such as in severe bacterial meningitis or brain abscesses, and are not seen in CJD [1]. **References:** [1] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. The Central Nervous System, pp. 1284-1286.
Question 5: In Huntington's chorea, which of the following is not typically associated?
- A. Slurred speech
- B. Dysmetria (Correct Answer)
- C. Degeneration of striatal GABA-ergic neurons
- D. Progressive dementia
Explanation: ***Dysmetria*** - **Dysmetria**, an inability to control the distance, speed, or coordination of movements, is more characteristic of **cerebellar dysfunction**, not typically a primary feature of Huntington's chorea [3]. - While some motor incoordination can occur, profound dysmetria specifically points away from the classic basal ganglia pathology of Huntington's disease. *Slurred speech* - **Dysarthria**, or slurred speech, is a very common symptom in Huntington's chorea due to the involuntary movements affecting the muscles of articulation. - The progressive neurological degeneration impacts various motor functions, including speech production. *Progressive dementia* - **Progressive dementia** is a hallmark feature of Huntington's chorea, manifesting as cognitive decline, executive dysfunction, and memory impairment. - This cognitive deterioration is often a significant and debilitating aspect of the disease. *Degeneration of striatal GABA-ergic neurons* - **Degeneration of striatal GABA-ergic neurons** within the caudate and putamen is the primary neuropathological finding in Huntington's chorea [1]. - This loss of inhibitory neurons leads to the characteristic hyperkinetic movements, such as chorea [2].
Question 6: Which of the following statements regarding Huntington’s chorea is true?
- A. It is a trinucleotide repeat expansion type of disorder (Correct Answer)
- B. There is a loss of function type of mutation.
- C. It is an autosomal recessive disorder.
- D. Increased number of CAA repeats.
Explanation: ***It is a trinucleotide repeat expansion type of disorder*** - Huntington's chorea is caused by an expansion of a **CAG trinucleotide repeat** in the **huntingtin gene (HTT)**. - This expansion leads to a misfolded protein and an **autosomal dominant** neurodegenerative disorder [1]. *There is a loss of function type of mutation.* - Huntington's chorea is primarily a **gain-of-function** mutation, where the expanded polyglutamine tract in the huntingtin protein leads to **toxic protein aggregation** and neuronal dysfunction. - While there might be some aspects of altered protein function, the core pathology is attributed to the **toxic effects** of the abnormal protein rather than a simple loss of its original function [1]. *It is an autosomal recessive disorder.* - Huntington's chorea is an **autosomal dominant** disorder, meaning only one copy of the mutated gene is sufficient to cause the disease. - Each child of an affected parent has a **50% chance** of inheriting the disease. *Increased number of CAA repeats.* - Huntington's chorea is characterized by an increased number of **CAG trinucleotide repeats**, not CAA repeats. - The expansion of these CAG repeats beyond a certain threshold (typically >35-40 repeats) in the huntingtin gene is directly responsible for the disease.
Question 7: Which condition is characterized by spongiform degeneration of the cerebral cortex?
- A. Creutzfeldt-Jakob disease (Correct Answer)
- B. Subacute sclerosing panencephalitis
- C. Fatal familial insomnia
- D. Cerebral toxoplasmosis
Explanation: ***Creutzfeldt-Jakob disease*** - This is a **prion disease** characterized by rapid cognitive decline, myoclonus, and distinctive EEG changes, with **spongiform degeneration of the cerebral cortex** as the hallmark neuropathological feature [1]. - The spongiform changes are due to intracellular vacuoles within neurons and astrocytes, giving the brain tissue a **spongy appearance** [2]. - CJD shows **widespread cortical involvement**, making it the classic answer for cortical spongiform degeneration [2]. *Subacute sclerosing panencephalitis* - This condition is a rare, **chronic, progressive encephalitis** caused by persistent measles virus infection. - It is characterized by widespread **demyelination, gliosis, and intranuclear inclusion bodies**, but not spongiform degeneration. *Fatal familial insomnia* - This is another **prion disease** that also exhibits spongiform degeneration, but the key difference is **anatomical distribution** [2]. - FFI primarily affects the **thalamus** (a subcortical structure) and causes severe insomnia, dysautonomia, and motor signs [2]. - While spongiform changes occur in FFI, they are most prominent in the **thalamus rather than the cerebral cortex**, making CJD the better answer for cortical spongiform degeneration [2]. *Cerebral toxoplasmosis* - This is an **opportunistic infection of the brain** caused by **_Toxoplasma gondii_**, primarily seen in immunocompromised individuals. - It typically results in the formation of **abscesses or ring-enhancing lesions**, rather than spongiform degeneration. **References:** [1] Cross SS. Underwood's Pathology: A Clinical Approach. 6th ed. Common Clinical Manifestations Of Central And Peripheral Nervous System Disease, pp. 712-713. [2] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. The Central Nervous System, pp. 1284-1286.
Question 8: Neurofibrillary tangles are associated with:
- A. Alzheimer's disease (Correct Answer)
- B. Bipolar disorder
- C. Schizophrenia
- D. Multiple infarctions
Explanation: ***Alzheimer's disease*** - **Neurofibrillary tangles** are intracellular aggregates of hyperphosphorylated tau protein, a hallmark pathological feature of Alzheimer's disease [1]. - These tangles disrupt neuronal function and transport, leading to neuronal death and contributing to cognitive decline in **Alzheimer's pathology** [2]. *Bipolar disorder* - **Bipolar disorder** is a mood disorder characterized by shifts between manic and depressive episodes. - It is not primarily associated with macroscopic brain pathology like neurofibrillary tangles; rather, it involves complex neurochemical dysregulation and genetic factors. *Schizophrenia* - **Schizophrenia** is a chronic mental disorder characterized by psychosis, disorganized thought, and impaired social functioning. - While it involves structural and functional brain changes, **neurofibrillary tangles** are not characteristic pathological findings in schizophrenia. *Multiple infarctions* - **Multiple infarctions** refer to multiple small strokes that can lead to **vascular dementia** [1]. - The primary pathology is cerebrovascular damage and neuronal loss due to ischemia, not the presence of neurofibrillary tangles. **References:** [1] Cross SS. Underwood's Pathology: A Clinical Approach. 6th ed. Common Clinical Manifestations Of Central And Peripheral Nervous System Disease, pp. 721-722. [2] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. The Central Nervous System, pp. 1292-1294.
Question 9: An elderly man has become progressively unable to live independently over the past several years, requiring assistance with daily activities. He has no motor or sensory deficits on physical examination, but is unable to give the current date or state his location. At autopsy, a large superficial left parietal lobe hemorrhage is found, along with numerous neocortical neuritic plaques and neurofibrillary tangles in the brain. Which mechanism is most likely responsible for his disease?
- A. Conformational change in the prion protein (PrP)
- B. Dopamine deficiency
- C. Expansion of polyglutamine repeats
- D. Aggregation of Aβ peptide (Correct Answer)
Explanation: ***Aggregation of Ab peptide*** - The presence of **neocortical neuritic plaques** containing **Aβ (Amyloid beta) peptides** is indicative of Alzheimer's disease, where peptide aggregation is a crucial mechanism [1,2]. - This aggregation leads to **neurodegeneration** and associated symptoms, aligning with the patient's cognitive decline and sudden coma [2]. *Dopamine deficiency* - Primarily associated with **Parkinson's disease**, which typically presents with **motor deficits** such as tremors and rigidity, unlike this patient's purely cognitive symptoms. - Dopamine deficiency does not explain the findings of **neurosenile plaques** and **tangles** in the context of an 86-year-old male. *Conformational change in the prion protein (PrP)* - This mechanism relates primarily to **prion diseases** like Creutzfeldt-Jakob disease, characterized by rapid neurological decline and distinctive histopathological findings. - There is no evidence of **prion-like degeneration** or **spongiform changes** noted in this patient's brain autopsy findings. *Expansion of polyglutamine repeats* - This is primarily associated with **Huntington's disease**, marked by **chorea and cognitive decline**, rooted in basal ganglia dysfunction, which is not applicable here. - The findings in this patient relate more to **Alzheimer's disease** pathology than polyglutamine expansion disorders. **References:** [1] Cross SS. Underwood's Pathology: A Clinical Approach. 6th ed. Common Clinical Manifestations Of Central And Peripheral Nervous System Disease, pp. 721-722. [2] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. The Central Nervous System, pp. 1290-1294.
Question 10: Loss of striatal fibres in caudate nucleus is associated with?
- A. Hemiballismus
- B. Huntington's disease (Correct Answer)
- C. Charcot-Marie-Tooth disease
- D. Parkinson's disease
Explanation: ***Huntington's disease*** - This neurodegenerative disorder is pathologically characterized by **atrophy of the striatum**, particularly the **caudate nucleus** [1]. - The loss of striatal neurons, especially medium spiny neurons, leads to the characteristic **chorea** and cognitive decline [1]. *Hemiballismus* - Characterized by **unilateral, violent, flinging movements** of the limbs. - It is typically caused by a lesion in the **subthalamic nucleus**, not the caudate nucleus. *Charcot-Marie-Tooth disease* - A group of inherited disorders that affect the **peripheral nerves**, leading to muscle weakness and sensory loss. - This condition does not involve the degeneration of the striatal fibers in the caudate nucleus. *Parkinson's disease* - Primarily caused by the degeneration of **dopaminergic neurons** in the **substantia nigra pars compacta**. - While it affects the basal ganglia circuitry, its primary pathology is not the loss of striatal fibers in the caudate nucleus but rather a **dopamine deficiency**. **References:** [1] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. The Central Nervous System, pp. 1299-1300.
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