Neurodegenerative disorders

Question 1

Common theme of neurodegenerative disorders

Answer 1

Presence of protein aggregates that are resistant to degradation through ubiquitin-proteasome system

Question 2

Neurodegenerative disorders affecting cerebral cortex neurons

Answer 2

Alzheimer’s
Pick/FTD

Question 3

Neurodegenerative disorders affecting basal ganglia

Answer 3

Parkinson’s
Huntington’s

Question 4

Neurodegenerative disorder affecting spinocerebellar tract

Answer 4

Friedreich ataxia

Question 5

Neurodegenerative disorder affecting motor neurons

Answer 5

ALS

Question 6

Genetic mutations associated with early onset Alzheimer’s

Answer 6

PSEN-1 on chromosome 14 (common)
APP on chromosome 21
PSEN-2 on chromosome 1

Question 7

Genetic mutation associated with late onset Alzheimer’s

Answer 7

ApoE4 on chromosome 19

Question 8

Brain atrophy of medial temporal lobe and widening of lateral ventricles on MRI

Answer 8

Alzheimer’s disease

Question 9

Degeneration of cholinergic neurons in basal nucleus and deficiency of choline acetyltransferase resulting in decreased Ach

Answer 9

Alzheimer’s disease

Question 10

EC neuritic plaques of beta-amyloid protein and IC tau neurofibrillary tangles

Answer 10

Alzheimer’s disease

Question 11

Enzymatic cleavage of APP by beta-secretase and gamma-secretase leads to production of A-beta peptides to form

Answer 11

Amyloid plaque in Alzheimer’s disease

Question 12

Alterations in personality, behavior, and speech pattern precede memory loss

Answer 12

Fronto-temporal dementia

Question 13

Common mutations in fronto-temporal dementia

Answer 13

C9orf72 on chromosome 9 –> TDP-43

GRN on chromosome 7 –> TDP-43

MAPT on chromosome 17 –> Tau

Question 14

Name used to tau histopathologic fronto-temporal dementia

Answer 14

Pick disease

Question 15

Ballooned, achromatic cytoplasm with an eccentric nucleus

Answer 15

Pick cells

Question 16

Clusters of microglial cells/macrophages around small foci of necrotic brain tissue associated with memory loss

Answer 16

Microglial nodules in HIV associated dementia

Question 17

Gene mutations associated with early onset Parkinson’s

Answer 17

SNCA
GBA
LRRK2
PINK1/Parkin

Question 18

Cardinal features of Parkinson’s disease

Answer 18

Resting tremor
Cogwheel rigidity
Brady- or akinesia
Gait dysfunction

Question 19

Intraneuronal proteinaceous inclusions of alpha-synuclein

Answer 19

Lewy bodies

Question 20

3 stages of DLB

Answer 20

Brainstem predominant
Transitional limbic
Diffuse neocortical

Question 21

Early onset dementia with hallucinations and parkinsonism

Answer 21

DLB

Question 22

Autosomal dominant disease with anticipation characterized by decreased GABA and unbalanced dopamine in the striatum

Answer 22

Huntington’s disease

Question 23

Prominent loss of medium size spiny neurons and gliosis in the caudate nucleus and putamen with intraneuronal inclusions

Answer 23

Huntington disease

Question 24

MRI findings in Huntington disease

Answer 24

Enlargement of lateral ventricles reflecting atrophy of caudate lobes

Question 25

Autosomal recessive trinucleotide repeats in the frataxin gene on chromosome 9 causing mitochondrial iron overload

Answer 25

Friedrich ataxia

Question 26

Conditions associated with Friedrich ataxia

Answer 26

Hypertrophic cardiomyopathy
Kyphoscoliosis
Foot abnormalities
DM

Question 27

Infant or toddler presents with spastic weakness, staggering gait, and frequent falls with kyphoscoliosis

Answer 27

Friedrich ataxia

Question 28

Generation of neurons in spinal cord, brainstem, cerebellum, and motor cortex in toddler

Answer 28

Friedrich ataxia

Question 29

Autosomal recessive mutation in ATM gene

Answer 29

Ataxia telangiectasia

Question 30

Normal function of ATM gene

Answer 30

Repair of dsDNA breaks

Question 31

Increased risk of developing in ataxia telangiectasia

Answer 31

Carcinomas
Gliomas
Lymphomas

Question 32

Most common progressive motor neuron disease

Answer 32

ALS

Question 33

Mutations associated with familial ALS

Answer 33

C9orf72
SOD1
TDP43 and FUS/TLS

Question 34

Asymmetric limb weakness, slight spasticity of legs, generalized hyperreflexia, but no incontinence and spared sensation

Answer 34

ALS

Question 35

Residual motor neurons may contain eosinophilic bunina bodies and ubiquitin rich filamentous aggregates

Answer 35

ALS

Question 36

Type of mutation in Huntington disease

Answer 36

Trinucleotide repeat of CAG in huntingtin gene