Neuropathology Practice Questions

Q: A 50-year-old man presents with a staggering gait and lightning pain in his hands and legs. His past medical history is significant for an aortic aneurysm and aortic insufficiency. Neurologic examination reveals impaired senses of vibration, as well as touch and pain in the lower extremities. The patient subsequently dies of pneumonia. Autopsy discloses obliterative endarteritis of meningeal blood vessels and atrophy of the posterior columns of the spinal cord. What is the appropriate diagnosis?

Tabes dorsalis. ### Explanation **Correct Answer: D. Tabes dorsalis** The clinical presentation and autopsy findings are classic for **Tertiary Syphilis**, specifically **Tabes dorsalis** (neurosyphilis) and **Syphilitic Aortitis**. 1. **Clinical Features:** "Lightning pains" (sharp, stabbing pains in the limbs) and a "staggering gait" (sensory ataxia due to loss of proprioception) are hallmark symptoms. 2. **Neurological Findings:** Impaired vibration and position sense indicate involvement of the **dorsal (posterior) columns** [1]. 3. **Pathology:** The autopsy finding of **obliterative endarteritis** (specifically *vasa vasorum* of the aorta leading to aneurysms/insufficiency) and **atrophy of the posterior columns** confirms the diagnosis. --- ### Why Other Options are Incorrect: * **A. Amyotrophic Lateral Sclerosis (ALS):** Involves both Upper and Lower Motor Neurons. It presents with muscle weakness and spasticity, but **sensory perception remains intact** [2]. * **B. Friedreich Ataxia:** While it involves the posterior columns and causes ataxia, it typically presents in **childhood/adolescence** and is associated with hypertrophic cardiomyopathy and kyphoscoliosis, not aortic aneurysms. * **C. Huntington Disease:** A trinucleotide repeat disorder characterized by **chorea** and progressive dementia due to atrophy of the **caudate nucleus**, not spinal cord atrophy. --- ### NEET-PG High-Yield Pearls: * **Argyll Robertson Pupil:** Often seen in Tabes dorsalis; pupils accommodate but do not react to light ("Prostitute's Pupil"). * **Romberg Sign:** Positive in Tabes dorsalis due to sensory ataxia (loss of proprioception) [3]. * **Charcot Joints:** Neuropathic arthropathy (painless joint destruction) is a common complication due to loss of pain sensation. * **Pathognomonic Pathology:** Look for "Heubner’s endarteritis" and "Gummas" in neurosyphilis questions.

Q: Which of the following gene is associated with Alzheimer's disease?

APOE4. Alzheimer’s Disease (AD) is the most common cause of dementia [1]. Its genetics are divided into early-onset (familial) and late-onset (sporadic) forms. The **APOE (Apolipoprotein E)** gene, located on chromosome 19, is the most significant genetic risk factor for late-onset AD. **Why APOE4 is correct:** The APOE gene has three common alleles: ε2, ε3, and ε4. The **APOE ε4 (APOE4)** allele increases the risk of developing AD and is associated with an earlier age of onset. It impairs the clearance of amyloid-beta (Aβ) peptides, leading to the formation of neuritic plaques, a hallmark of the disease. Inheriting one copy of ε4 increases risk 3-fold, while two copies increase risk 12-fold. **Analysis of Incorrect Options:** * **APOE1:** This is not a recognized common isoform of the Apolipoprotein E gene in human populations. * **APOE:** While this is the name of the gene itself, the question asks for the specific variant associated with the disease. * **APOE3:** This is the most common (neutral) allele. It is considered "risk-neutral" and does not significantly increase or decrease the risk of AD. **High-Yield Clinical Pearls for NEET-PG:** * **Protective Allele:** **APOE ε2** is considered protective against Alzheimer's disease. * **Early-Onset AD (Familial):** Associated with mutations in **APP** (Chr 21), **Presenilin 1** (Chr 14 - most common), and **Presenilin 2** (Chr 1). * **Down Syndrome Connection:** Patients with Trisomy 21 have an extra copy of the APP gene, leading to early-onset AD (often by age 40). * **Pathology:** Characterized by extracellular **Amyloid plaques** and intracellular **Neurofibrillary tangles** (composed of hyperphosphorylated **Tau protein**).

Q: Identify the rosette and its corresponding diagnosis.

Perivascular pseudorosette. ***Perivascular pseudorosette*** - Characterized by **radial arrangement** of tumor cells around blood vessels with **fibrillary processes** extending toward the vessel wall, creating a perivascular pattern. - **Pathognomonic** for **ependymoma**, a glial tumor arising from ependymal cells lining the ventricles and central canal of the spinal cord. *Homer Wright rosette* - Features tumor cells arranged in a **circular pattern** around a **central tangle of neural filaments** without a true lumen. - Classically associated with **neuroblastoma** and **medulloepithelioma**, but not diagnostic as they can be seen in other neural tumors. *True rosette* - Contains a **central true lumen** lined by tumor cells, representing primitive neural tube formation. - Seen in **primitive neuroectodermal tumors (PNET)** and **medulloepithelioma**, but less specific than other rosette types. *Flexner Wintersteiner rosette* - Shows tumor cells arranged around a **central lumen** with terminal bars and **internal limiting membrane**, resembling retinal photoreceptors. - **Pathognomonic** for **retinoblastoma**, the most common primary intraocular malignancy in children.

Question 1

A 45-year-old man presents with weakness and wasting of the muscles of his right hand for 8 months. Physical examination shows fasciculations of the hand. The patient's speech is impaired, and 6 years later, he dies of respiratory insufficiency. Autopsy shows atrophy of ventral roots in the spinal cord. Which of the following is the most likely diagnosis?

Accepted Answer

Amyotrophic lateral sclerosis

Answer

Gerstman Straussler-Scheinker disease

Answer

Huntington disease

Answer

Multiple infarct dementia

Question 2

In Tuberous sclerosis, which of the following is NOT typically seen?

Accepted Answer

Ependymoma

Answer

Adenoma sebaceum

Answer

Giant cell astrocytoma

Answer

Subependymal nodules

Question 3

Peripheral nerve sheath tumors include all of the following except:

Accepted Answer

Synovial sarcoma

Answer

Schwannoma

Answer

Neurofibroma

Answer

Malignant peripheral nerve sheath tumor (MPNST)

Question 4

Spongiform changes in astrocytic tumor with neuronal loss is seen in?

Accepted Answer

Prion disease

Answer

Alzheimer's disease

Answer

Parkinson's disease

Answer

Amyloidosis

Question 5

A 50-year-old man presents with a staggering gait and lightning pain in his hands and legs. His past medical history is significant for an aortic aneurysm and aortic insufficiency. Neurologic examination reveals impaired senses of vibration, as well as touch and pain in the lower extremities. The patient subsequently dies of pneumonia. Autopsy discloses obliterative endarteritis of meningeal blood vessels and atrophy of the posterior columns of the spinal cord. What is the appropriate diagnosis?

Accepted Answer

Tabes dorsalis

Answer

Amyotrophic lateral sclerosis

Answer

Friedreich ataxia

Answer

Huntington disease

Question 6

Which of the following gene is associated with Alzheimer's disease?

Accepted Answer

APOE4

Answer

APOE1

Answer

APOE

Answer

APOE3

Question 7

A neuropathologist is performing an autopsy on a 65-year-old man who had resting tremor, rigidity, and akinesia. Histologic sections of the substantia nigra reveal neurons containing round eosinophilic inclusions. Such inclusions most likely represent?

Accepted Answer

Lewy bodies

Answer

Granulovacuolar degeneration

Answer

Hirano bodies

Answer

Lafora bodies

Question 8

Genetic alteration in which of the following chromosomes can lead to oligodendroglioma?

Accepted Answer

Chromosome 19q

Answer

Chromosome 3p

Answer

Chromosome 9q

Answer

Chromosome 13q

Question 9

A 50-year-old woman presents with a 5-year history of headaches, generalized tonic-clonic seizures, and bilateral leg weakness. Skull films reveal hyperostosis of the calvarium. Biopsy of the responsible lesion shows a whorling pattern of the cells. Which of the following is the most likely diagnosis?

Accepted Answer

Meningioma

Answer

Arachnoid cyst

Answer

Glioblastoma multiforme

Answer

Metastatic breast cancer

Question 10

Identify the rosette and its corresponding diagnosis.

Accepted Answer

Perivascular pseudorosette

Answer

Homer Wright rosette

Answer

True rosette

Answer

Flexner Wintersteiner rosette

Neuropathology — MCQs

Neuropathology — MCQs

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