Neurodegenerative disease

Question 1

Pathology of Alzheimer’s disease

Answer 1

Extracellular plaques (beta amyloid) 
Intracellular tangles (tau proteins)
Generalized cerebral atrophy: narrowed gyri and widened sulci, dilated ventricles

Question 2

Pathology of Pick’s disease

Answer 2

Intracellular Pick bodies made up of tau proteins

Selective atrophy of frontal and temporal lobes

Question 3

Pathology of dementia with Lewy bodies

Answer 3

Intracellular Lewy bodies made up of alpha synuclein

Question 4

Pathology of Parkinson’s disease

Answer 4

Intracellular Lewy bodies made up of alpha synuclein

Atrophy of the substantia nigra

Question 5

Pathology of ALS

Answer 5

Intracellular speroids made up of neurofilament subunits/superoxide dismutase (SOD1)

Question 6

Pathology of multisystem atrophy

Answer 6

Glial inclusions made of alpha synuclein and tau proteins

Atrophy of putamen (grey-green color), SN, cerebellum, pons and olivary nuclei

Question 7

Differential diagnosis of patient presenting with dementia

Answer 7

Stroke
Infectious (CJD, syphilis, HIV)
Neoplasms
Drugs/toxins
Metabolic
Vitamin deficiencies (Vit B)

Question 8

What are the 3 main neurodegenerative diseases affecting the cerebral cortex?

Answer 8

Alzheimer’s disease
Lewy body disease
Frontotemporal dementias (Picks)

Question 9

What are the 2 main neurodegenerative diseases of the basal ganglia?

Answer 9

Parkinson’s disease

Huntingtons disease

Question 10

What are the major neurodegenerative diseases of the cerebellum and spinal cord?

Answer 10

Multiple system atrophy
ALS
Spinal muscular atrophy
Friedreich’s ataxia

Question 11

2 types of Alzheimers disease?

Answer 11

Familial (early onset): autosomal dominant

Sporadic (late onset)

Question 12

What disorder is often associated with AD?

Answer 12

Down syndrome. The APP gene is located on chromosome 21, which is duplicated in Down’s patients.

Question 13

What genes are associated with late onset AD?

Answer 13

ApoE4 on chromosome 19 increases risk

ApoE2 is protective

Question 14

Presentation of a patient with dementia with Lewy bodies

Answer 14

Initially dementia and visual hallucinations, followed by parkinsonian symptoms

Question 15

Presentation of patient with Pick’s disease

Answer 15

Aphasia progressing to dementia

Very rare

Question 16

Etiology/Pathogenesis of Huntington’s disease

Answer 16

Autosomal dominant chromosome 4 mutation leads to abnormal expansion of CAG triplet repeat
Decreased levels of GABA and Ach in the caudate causes choreiform movements

Question 17

Symptoms of multiple system atrophy

Answer 17

In 4th-6th decade, variable combination of parkinsonism, cerebellar ataxia and autonomic dysfunction

Question 18

What is Werdnig-Hoffman Disease?

Answer 18

Spinal muscular atrophy type 1: floppy baby

Autosomal recessive disorder (c5: SMN gene) causing degeneration of lower motor neurons, atrophy of distal muscles

Question 19

What is Kugelberg-Walander disease?

Answer 19

Spinal muscular atrophy type 2

Similar to type 1, but later presentation

Question 20

What is the most common form of hereditary ataxia?

Answer 20

Friedreich’s ataxia

Question 21

What is Friedreich’s ataxia?

Answer 21

Autosomal recessive disorder causes trinucleotide repeat on chromosome 9
Leads to degeneration of the cerebellum (ataxia) and degeneration of spinal cord tracts (loss of sensation, strength and reflexes)

Question 22

Pathologic findings of vascular dementia

Answer 22

Multiple strokes
Single stroke in strategic site
Small vessel disease

Question 23

Histology/Pathology of Wernicke’s encephalopathy

Answer 23

Acute: Normal mamillary body dimensions with recent petechial hemorrhages
Chronic: shrunken mamillary bodies, brown discoloration, central gliosis

Question 24

Effects of methanol toxicity

Answer 24

Permanent loss of vision, delirium, convulsions, coma, death due to global hypoxic injury, white matter necrosis and hemorrhages/infarction

Question 25

Effects on brain of CO poisoning

Answer 25

Cerebral edema, white matter petechial hemorrhages, hemorrhagic necrosis of globus pallidus

Question 26

What is central pontine myelinolysis?

Answer 26

Triangular lesion of the pons caused by rapid correction of electrolyte imbalance (hyponatremia)