Neurodegenerative

Question 1

Most common degenerative disorder

Answer 1

1st Alzheimer’s
2nd IPD

Question 2

Most common familial type of IPD

Answer 2

PARK-8 gene: AD, chromosome 12, enzyme LRRK-2 (leucine rich repeat kinase)

Question 3

Onset of postural instability in Parkinson’s disease vs P+

Answer 3

IPD 8-10 years
MSA: 5 years
PSP: 2 years

Question 4

Most initial non-motor symptoms in IPD

Answer 4

Anosmia/hyposmia

Question 5

Wilson disease genetics

Answer 5

Autosomal recessive ch13, mutation in ATP7B

Question 6

IPD PET scan findings: decreased uptake in what areas

Answer 6

Dopaminergic dorsal striatum (🟢putamen🟢 < caudate) , then nigrostriatal pathway

Question 7

Most likely to cause hallucination from IPD medications

Answer 7

Amanatadine and dopamine agonists > carbidopa/levodopa

Question 8

Most likely to cause dyskinesia from IPD medications

Answer 8

Levodopa/carbidopa > dopamine agonists and COMT-I

Question 9

Best option of DBS for dyskinesia in IPD

Answer 9

DBS-GPi

Question 10

Contraindications of DBS-STN in IPD

Answer 10

1- Severe depression and psychosis
2-Cognitive decline
3-Age > 70
4-Brain atrophy
5-On-phase Freezing of gait

Question 11

What is the goal of DBS-STN

Answer 11

Decrease Dopaminergic medications by 50%

Question 12

Preferred surgical management of tremor in IPD

Answer 12

Thalamotomy or DBS on ventral intermediate nucleus (VIM)

Question 13

Treatment of restless leg syndrome

Answer 13

Dopamine agonist or gabapentin

Question 14

Treatment of ٍREM sleep disorders

Answer 14

Clonazepam or melatonin in elderly

Question 15

Treatment of orthostatic hypotension in IPD

Answer 15

Fludrocortisone
Increase fluid intake
Midodrine

Question 16

List of tauopathies (5)

Answer 16

1-Alzheimers’ disease
2-FTD
3-CBD
4-PSP
5-pick disease

Question 17

List of syncleinopathies (5)

Answer 17

PALMR
1-Parkinson’s disease
2- Autonomic failure
3-Lewy body dementia
4-MSA
5-Spontaneous REM sleep behavioral disorder

Question 18

FDG PET in different types of P+

Answer 18

MSA: putamen and/or cerebellar
LBD: occipital
PSP: prefrontal cortex (anterior cingulate)
CBD: frontopraietal
——-
Alzheimer’s: parietal-temporal > frontal
FTD: frontotemporal

Question 19

Pathology in different Parkinson’s plus syndromes

Answer 19

MSA: oligodendro-glial cytoplasmic inclusion (GCI)
DLB: Lewy bodies
PSP: tufted Astro yes
CBD: globose neurofibrillary tangles and ballooned neurons (achromasia)

Question 20

Wilson disease imaging findings and pathology

Answer 20

-CT brain: symmetrical hypodensity of putamen
-MRI T2 and FLAIR: bil symmetrical hyper-intense basal ganglia (putamen), thalami, and dentate nuclei. midbrain face of panda sign.
-Pathology: Alzheimer’s type 2 cells and opalski cells

Question 21

MCC of toxin induced Parkinsonism (environmental) and typical location

Answer 21

Manganese
Globus pallidus and STN

Question 22

Huntington’s disease genetics

Answer 22

AD on Chromosome 4, CAG repeat sequence

⚫️CAG >= 40 : high penetrance + have the disease
⚫️CAG 36-39 : reduced penetrance + have the disease
⚪️CAG 27-35 : intermediate penetrance + don’t have the disease
⚪️CAG <27 : normal

Question 23

Huntington’s disease imaging findings

Answer 23

MRI: unilateral or bilateral caudate atrophy and dilated lateral ventricles
PET: unilateral or bilateral caudate hypo-metabolism

Question 24

First line Tx for Sydenham’s chorea

Answer 24

Valproic acid

Question 25

Huntingtons disease FDA approved therapy

Answer 25

Tetrabenazine

Question 26

Causes of drug induced chorea

Answer 26

Levodopa (MCC) + dopamine agonists Lamotrigine Lithium OCP Estrogen Cocaine Amphetamine Methadone

Question 27

First line for adult onset focal dystonia

Answer 27

Botulinum toxin type A

Question 28

Best medical treatments for dystonia (if non-responsive to Botox or generalized)

Answer 28

1- Anticholinergics (benzotropine, trihexyphenidyl), effective in 40% 2- Baclofen, effective in 20% 3- Benzodiazepine, effective in 15%

Question 29

Preferred type of DBS in dyskinesia and/or dystonia (refractory and generalized)

Answer 29

Globus pallidus

Question 30

What is the gene for inherited myoclonus-dystonia, and what is the best treatment

Answer 30

-Gene: 3-sacroglycan gene (SGCE) -First option: gamma hydroxybutyric acid. Second option: clonazepam or Valproic acid.

Question 31

Treatment for hereditary essential myoclonus

Answer 31

1- clonazepam 2- 5-hydroxytryptophan

Question 32

Treatment options for lance Adams syndrome

Answer 32

1- clonazepam 2- ipracetam 3-Keppra 4-Valproic acid

Question 33

Difference between essential palatal myoclonus and symptomatic palatal myoclonus

Answer 33

🔲Essential palatal myoclonus: +ve ear clicks, disappears during sleep, affected muscle tensor veli palatini, -ve MRI findings. 🔲Symptomatic palatal myoclonus: -ve ear clicks, persistent during sleep, affected muscle Levator veli palatini, MRI : olivary hypertrophy. M>F

Question 34

First line therapy for restless leg syndrome

Answer 34

1- DA : pramipexole , or ropinirole or pergolide 2- Levodopa

Question 35

First line therapy for stiff-man syndrome

Answer 35

1-Diazepam 2- alt: clonazepam

Question 36

First line therapy for hemifacial spasms

Answer 36

1- botox injections (90% improvement) 2- surgical if refractory

Question 37

Stiff man syndrome pathophysiology

Answer 37

Antibodies against GAD (glutamic acid decarboxylase) in 70% Others: paraneoplastic or endocrinopathy

Question 38

6 domain for cognition:

Answer 38

1- Memory and learning 2- Perceptual motor 3- Executive function 4- Social cognition 5- Language 6- Complex attention

Question 39

Annual progression rate of MCI (mild cognitive impairment) to AD

Answer 39

In clinic 10-15% (LATEST study in sa 6-7%) In community 5-10%

Question 40

Alzheimer’s disease genetics

Answer 40

🟢Sporadic 95% 🟡Familial 5%: earliest and most common presenilin-1 > Amyloid precursor protein (APP) > presenilin-2 Susceptibility gene (only higher risk, not causative): aploliporotein 4

Question 41

What type of memory is affected in Alzheimer’s disease, and what type is spared

Answer 41

Episodic memory and delayed recall is affected Spared: procedural, old remote memory, and working memory

Question 42

Pathology of Alzheimer’s disease

Answer 42

-Neurofibrillary tangles (tau deposition) -Helical filaments -Amyloid plaques (senile plaques) -Lewy bodies (only in hippocampus)

Question 43

Most common phenotype of FTD

Answer 43

FTD behavioral variant: accumulation of TDP 43 due to mutation in Ch 9/C9ORF72

Question 44

Most common primary neurodegenerative cause of dementia in all ages

Answer 44

1- Alzheimer’s 2- Lewy body dementia 3- FTD

Question 45

Most common primary neurodegenerative cause of dementia in <65yo

Answer 45

1- Young onset Alzheimer’s 2- FTD 3- Lewy body dementia

Question 46

Most common primary and secondary cause of dementia

Answer 46

1-Alzheimer’s disease 2- Vascular dementia 3-Lewy body dementia 4-FTD

Question 47

Treatment of FTD behavioral type

Answer 47

For behavioral and psychiatric symptoms: SSRI first line For aggression and disinhibition: clonazepam, quetiapine, respiredone AVOID ChEI and memantine as it worsens behavioral symptoms.

Question 48

Treatment of Lewy body dementia

Answer 48

Based on symptoms Hallucinations: quetiapine is best REM sleep disorder: clonazepam or melatonin Parkinsonism: Same as Parkinson’s Depression: SSRI Anxiety: sertraline Cognitive: donepezil, galantamine, rivastigmine RLS: DA, gabapentin, CD/LD Orthostatic hypotension: fludrocortisone, midodrine

Question 49

Most common behavioral symptoms in vascular dementia

Answer 49

Depression

Question 50

What is the cognitive deficits seen in vascular dementia

Answer 50

Executive dysfunction

Question 51

What is the cognitive deficit seen in Lewy body dementia

Answer 51

Working memory and attention

Question 52

Characteristic EEG finding in anti-NMDA encephalitis

Answer 52

Delta brush pattern

Question 53

Genetics of CJD

Answer 53

-Sporadic CJD: Met or Val at codon 129 -Variant CJD: Met at codon 129 -Iatrogenic CJD: Met at codon 129 -Familial CJD: glutamine-lysine at codon 200 (Most common)> codon 178 -Fatal familial insomnia (FFI): codon 178 + codon 129