Random questions Flashcards
1
Q
ALS patients are at risk of developing which dementia?
A
FTD - abnormal accumulation of TDP-43, including genetic forms associated with mutations in the genes C9ORF72, GRN, TARDBP, and VCP.
2
Q
Middle medulla is primarily supplied by what?
A
Anterior spinal artery
3
Q
What mutations can cause autosomal dominant partial epilepsy with auditory features (ADPEAF)?
A
LGI-1
4
Q
What mutation is associated with benign familial neonatal epilepsy?
A
KCNQ2
5
Q
What mutation is associated with familial frontal lobe epilepsy.
A
CNRNA4
6
Q
A lesion to which hypothalamic nuclei can lead to hyperthermia?
A
anterior nuceli - temp regulation
7
Q
lateral nucleus of hypothalamus regulates what?
A
thirst/hunger
8
Q
Ventromedial nucleus of hypothalamus regulates what?
A
satiety
9
Q
Dorsomedial nucleus of hypothalamus regulates what?
A
aggression
10
Q
Charcot Marie Tooth is associated with what pathology?
A
Recurrent episodes of demyelination and remyelination of peripheral nerves lead to the concentric proliferation of Schwann cells around axons, also known as “onion bulb” formations.
11
Q
What enzyme is mutated in Neimann-Pick>
A
sphinomyelinase
12
Q
What enzyme is mutated in Tay-Sach’s disease?
A
Hexosamindase A deficiency
13
Q
What enzyme is mutated in Krabbe disease?
A
Galactosylceramidase deficiency
14
Q
What enzyme is mutated in Gaucher disease?
A
Glucosylceramidase deficiency
15
Q
What enzyme is deficient in metachromatic leukodystrophy?
A
Arylsulfatase A deficiency
16
Q
Zinc toxicity can cause deficiency of what?
A
Copper- present similarly to subacute combined degeneration
17
Q
What med can be used for pseduobublar affect?
A
dextromethorphan-quinidine
18
Q
One of the first choice agents for OCD?
A
Paroxetine
19
Q
Are PSP and corticobaslar degeneration tau-opathies or alpha synucleinopathies?
A
Tau
20
Q
Is Alzheimer’s alpha synuclein or tauopathy?
A
tau
21
Q
What drugs can cause drug induced tremor?
A
Amiodarone, lithium, selective serotonin reuptake inhibitors, caffeine, valproic acid, immunosuppressants (tacrolimus, ciclosporin, and dopamine antagonists (haloperidol, thioridazine) are known to cause drug-induced tremors.
22
Q
Hot cross bun sign on imaging is suggestive of what disorder?
A
MSA
23
Q
Unlike other movement disorders, the hallmark of this disorder is autonomic dysfunction including urinary incontinence, erectile dysfunction, and orthostatic hypotension.
A
MSA
24
Q
What transverses through the jugular foramen?
A
The glossopharyngeal nerve (CN IX), vagus nerve (CN X), and spinal accessory nerve (CN XI)
25
acroparesthesias (burning, tingling pain in the upper and lower extremities), hypohidrosis, and angiokeratomas. Which disease?
Fabry - X linked recessive lysosomal storage disorder
enzyme: A-galactosidase A
26
Lumbar stenosis symptoms are exacerbated with lumbar flexion or extension?
extension
27
What are the segments of the carotid artery?
cervical (C1), petrous (C2), lacerum (C3), cavernous (C4), clinoidal (C5), ophthalmic (C6), and communicating (C7).
28
Which triptan has the longest half life and is FDA approved for menstrual headaches?
Frovatriptan
29
Telencephalon develops into what?
cerebral hemispheres, the basal ganglia, the hippocampus, and the amygdala.
30
myelencephalon develops into what?
medulla
31
Diencephalon develops into what?
thalamus, hypothalamus, and retina.
32
Mesencephalon develops into what?
midbrain
33
Metencephalon develops into what?
pons and cerebellum
34
myelomeningoclee is associated with what condition?
Chiari II malformation
35
Oculomasticatory myorhythmia is pathognomic of which disease?
Whipple's
**t.whipplei
36
non-epileptic paroxysm in newborn characterized by exaggerated startle response, tapping on nose/face?
hyperekplexa - 1/3 familial cases are associated with glycine receptor alpha 1 subunit gene mutation
37
anti-ma2 autoantibodies are most commonly associated with what tumor?
testicular
38
CCM1 mutation is associated with what?
numerous cavernous malformations
*chromosome 7q
39
Leigh syndrome MRI?
symmetrical T2 hyperintense lesions in BG, periaqueductal grey and cerebral peduncles or brainstem
40
locus coeruleus is the primary source of what?
norepi
41
nucelus basalis of meynert produces what?
acetylcholine
42
Sturge-Weber has what MRI findings?
angiomas involving leptomeninges, choroid and face
*port wine stain
*refractory epilepsy
43
Tourette's diagnosis
a patient must have two or more motor tics and at least one vocal tic for at least one year.
44
Depression with psychotic features
Patients who only experience psychotic symptoms during a major depression episode
45
Schizoaffective disorder
sx of schizophrenia with concurrent mood disorder. The psychotic sx must be present for at least 2 weeks without mood sx
46
what is the only thalamic artery to branch off the PCOM?
polar (tuberothalamic) artery
47
Donepezil MOA
AChE-inhibitor
48
Memantine MOA
Primarily via N-methyl-d-aspartate (NMDA) receptor blockade,
49
Kleine Levin syndrome
young males, requires at least 2 episodes of recurrent time limited hypersomia with behavioral (hyperphagia, irritability, sexual) or cognitive change with return to baseline between episodes
50
First dose bradycardia in MS drug?
Fingolomid
51
most common sider effect of dimethyl fumarate?
skin flushing
*can also cause nausea, diarrhea and leukopenia
52
Decorticate positioning lesion?
ABOVE the red nucelus (which is at the line of the midbrain)
53
Decerebrate positioning lesion?
At or BELOW red nucleus
54
Which meds should be avoided in Dravet syndrome?
Na channel blockers
*Dravet is a mutation in Na channel gene SCNA1
55
HSV encephalitis is known to trigger what?
NMDA encephalitis
56
Autosomal dominant nocturnal frontal lobe epilepsy
Sleep-related hyperkinetic AWARE seizures. Patients can have a prodrome of fear before the motor component of the seizure. *Mutations of nicotinic acetylcholine receptor genes CNRNA4 or CHRNB2 can cause this epilepsy syndrome.
57
NF-1 are at risk for developing what?
optic nerve/chiasm glioma, pilocytic astrocytoma, and neurofibromas.
58
Germinomas histology?
tumor cells are positive for cKIT, alkaline phosphatase, and SALL4.
59
Tangier disease
deficientin HDL, enlarged tonsils with an orange-yellow discoloration, and peripheral neuropathy. Patients often also have hepatosplenomegaly, lymphadenopathy, thrombocytopenia, anemia, coronary artery disease, and corneal clouding
60
Tolcapone and entacapone MOA?
COMT inhibitors- decrease the peripheral breakdown of levodopa
61
Epilepsy of Infancy with Migrating Focal Seizures (EIMFS).
Focal seizures that migrate between hemispheres and regression of milestones
Gene: KCNT1
62
Which Ab associated with dermatomyositis has the highest association with cancer?
Anti-TIF-1y
63
Gabapentin/Pregabalin MOA?
modulation of voltage gated Ca channels
64
Suprascapular nerve does what?
0-15 degree shoulder abduction/external rotation of arm
65
Pimavanersin MOA
Serotonin 5-HT2A receptor inverse agonist and antagonist
66
Allele for asians and CBZ induced SJS?
HLA B1502
67
Autonomic dysreflexia occurs with spinal injury at what level?
at or above T6
*intermediolateral cell column in thoracic cord which supplies sympathetic innervation
68
Zellweger syndrome is caused by what
autosomal recessive mutation in PEX gene
*elevated very long chain fatty acids
*inappropriate assembly of peroxisomes
69
Ropinirole MOA
direct dopamine agonist
70
MOA of abciximab?
Glycoprotein IIB/IIIA inhibitor
71
MOA of plavix?
ADP receptor inhibitor
72
Dabigatran MOA?
Direct thrombin inhibitor
73
Rivaroxaban and Apixaban MOA?
Factor Xa inhibitors
74
Meissner corpuscles do what?
superficial light touch
75
livedo reticularis is caused by what PD drug?
amantadine
76
A positive wave is seen in what?
acute neuronal injury (radiculopathy) or muscle inflammation
77
Ependymomas location?
most are around 4th ventricle
*perivascular pseudorosettes
78
Medulloblastomas path?
Homer-wright rosettes
*also around 4th ventricles
79
Do diffuse astrocytomas contrast enhance?
no
*unlike GBM
80
Weber syndrome?
ipsilateral 3rd nerve palsy with contralateral hemiparesis
*medial midbrain
81
Avastin targets what?
VEGF receptors
82
Alemtuzumab targets what?
CD-52 receptor on activated T and B lymphocytes
83
Natalizumab targets what?
Alpha 4 integrin on T lymphocytes
84
Ocrelizumab targets what?
CD20 positive B cells
85
High amplitude motor unit action potentials are indicative of acute or chronic problems?
chronic
86
Signs of acute neuronal injury on EMG?
positive sharp waves, fibrillations and fasciculations
87
Pompe disease deficiency?
alpha-glucosidase
88
McArdle disease is due to deficiency in what?
myophosphorylase deficiency.
89
phenobarbital MOA
increasing duration of GABA activated chloride channels
90
What type of headache has a prominent circadian periodicity?
cluster
91
Genes associated with association for Parkinsons?
GBA homozygotes and heterozygotes
LRKK2
92
Gene associated with Wilsons?
ATP7B, PRNP
93
Which 2 botulinum serotypes cleave SNAP 25?
A and B
94
MOA of riluzole?
glutamate release inhibitor
95
Where does manganese primarily accumulate in the brain during toxicity?
globus pallidus
*presents as dopamine resistant parkinsonism and dystonia
96
Tetrabenazine is used for what?
chorea for huntington's
97
What meds are approved for TD?
valbenazine and deutetrabenazine
*selective VMAT2 inhibitors
98
MOGAD pattern?
perivascular demyelination
KEY feature is preservation of oligodendrocytes
99
well circumscribed contrast enhancing intraventricular mass near foramen of monroe with hx of TS?
subependymal giant cell astrocytoma
100
What does a fasciculation sound like on EMG?
like popcorn pop
101
patient with weakness in b/l lower limbs, particularly quads and finger flexers most likely has what
Inclusion body myositis
102
what muscle is solely innervated by C5 nerve root
rhomboid
103
what travels through the superior orbital fissure?
oculomotor, trochlear, abducens, V1 branch
104
What artery supplies the LGN?
posterior choroidal
105
What artery supplies the MGN?
thalamogeniculate
106
What is cotard delusion?
a person denies the existence of their body. sometimes believe that they are dead.
*self starvation
107
SMA type 1 presents how?
-early in life
-hypotonia
-narrow chest
-tongue fasciculations
-hypo or areflexia
*often progresses to respiratory failure and almost always fatal by age 2
*mutation in SMN1
108
inititation of non-REM sleep is controlled by what area of the brain?
ventrolateral preoptic area
109
NF2 people develop what brain tumors?
vestibular schwannomas and multiple meningiomas
110
NF1 people develop what tumors
low grade gliomas
111
Wilson's disease has what on MRI
T2 FLAIR hyperintensities of caudate and putamen
*panda sign
112
Drug of choice for paroxysmal kinesigenic dyskinesia?
carbamazepine or phenytoin
113
What is Fahr's disease
progressive movement disorder, often parkinsonism and/or neurpsych disorder
-CTH with b/l calcification of the BG
114
oposoclonus myoclonus syndrome is associated with what?
usually paraneoplastic
kids: neuroblastoma
adults: neoplasms - medullary thyroid, breast adenocar, small cell lung cancer and paraneoplastic
115
Closure of neural tube happens when
4th week of gestation
116
Pinealoma can present how?
parinaud syndrome, insomnia, precocious puberty, gait disurbances, hydrocephalus
117
How does juvenile HD differ from adult onset HD?
no chorea
but has dystonia and bradykinesia, cerebellar dysfunction and neuropsych symptoms
118
most common cause of focal seizures in full term neonates?
hypoxic ischemic injury
119
most common cause of focal seizures in pre-term infants?
hemorrhage
120
what is the essential finding between multifocal motor neuron disease and ALS?
conduction blck
121
MOA of natalizumab?
inhibits T cell transmigration across the BBB by targeting alpha 4 integrin
122
lissencephaly is what
complete absence of sulci--VERY SMOOTH
123
Which MS drug is known to develop neutralizing antibodies?
interferon beta
124
What tumor is most commonly associated with cerebellar mutism?
medulloblastoma
125
What is a hypnic headache?
only occurs during sleep and causes awakening
"alarm clock headache"
126
Which type of headache responds to caffeine and lithium?
hypnic headache
127
which antibioitcs cause mania?
macrolidses
128
What age can sleep spindles first be seen?
44 weeks GA
129
Typical treatment for cerebral toxo?
pyrimethamine and sulfadiazine
130
1p/19q co deletion is seen in which brain tumor?
oligiodendroglioma
131
Raphe nucleus produces what?
serotonin
132
which bacteria is classically associated with rhomboencephalitis?
listeria monocytogenes
133
lead poisoning can produce what type of neuropathy?
motor- predominately radial nerve
134
logopenic pirmary progressive aphasia is characterized by what?
difficulty with word finding retrieval and repetition
135
semantic primary progressive aphasia is characterized by what?
impaired comprehension or single words and confrontation
136
what are the 3 most common causes of meningitis in neonate?
group b strep, e.coli, listeria monocytogenes
137
most common causes of bacterial menginitis in children ?
strep pneumo, neisseria, h.flu
138
most common cause of meningitis in adolescents/adults?
neisseria, strep pneumo
139
most common cause of bacterial meningitis in adults >50?
strep pneumo, neisseria, listeria
140
AQP4 channels are found on which cell type?
astrocytes
141
Psammoma bodies (little onion looking things) are seen in which brain tumor on path?
meningioma
142
what is a thalamic aphasia?
dominant hemisphere
fluency predominant deficit and less impressive difficulties with comprehension
143
Autofluorescent curvilinear bodies are characteristic of what disease?
neuronal ceroid lipofuscinoses
*seizures, retinopathy with vision loss, dementia
144
What med can be used in patients who are s/p TBI and lack motivation?
methylphenidate
145
Fatal fetal insomnia is characterized by what?
-inherited prion disease
-loss of K complexes and sleep spindles (abnl stage 2 sleep)
-delirium, hallucinations, clumsiness
146
What is seen on a muscle biopsy in steroid myopathy?
type 2 fiber atrophy
147
Triad of spasmus nutans?
torticollis, head bobbing and nystagmus
148
MOA of clonidine?
alpha 2 receptor agonist
149
What is the vertical gaze center and where is it located?
rostral MLF in the rostral midbrain
150
Recurrent meningitis in someone with a dimple in their lumboscacral region?
dermal sinus tract
151
How does leber hereditary optic neuropathy present?
20s-30s, sudden onset painless central vision loss with subsequent vision loss in the other eye weeks to months later
*usually caused by mitochondrial disorder
152
Neurosarcoidoisis manifests how?
papilledema, cranial mono/polyneuropathies, peripheral neuropathy, neuroendocrine dysfunction
153
Lipoatrophy is a side effect of which MS drug?
glatiramer acetate
154
Anti-amphiphysin paraneuplastic syndrome can result in what two conditions?
encephalomyelitis and stiff person syndrome
155
anti-Hu paraneoplastic syndrome can cause what?
pure sensory neuropathy
156
What class of meds when given with statins increase risk of statin induced myopathy?
calcium channel blockers, cyclosporine, niacin, fibrates
157
What does using steroids with bacterial meningitis help with?
decreases risk of hearing loss
158
Gene associated with HYPOkalemic periodic paralysis?
CACNA1S
159
what triggers HYPOKalemic periodic paralysis?
large carb meals, salt, insulin, steroids, rest after exercise
160
Gene most commonly associated with HYPERkalemic period paralysis?
SCN4A
161
What it the only oral CGRP (gepant) approved for abortive therapy for cluster headaches?
Galcanezumab
