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Eugenie Notes > Notes 2A > Flashcards

Notes 2A Flashcards

1
Q

Fencer’s posture in a seizure is assoc with and indicates activation of?

A

frontal lobe epilepsy and indicated activation of the supplementary motor area

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2
Q

Gabapentin can worsen what seizures?

A

Generalized, especially myoclonus

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3
Q

MOA of gabapentin?

A

Works by interacting with the alpha2-omega subunit of presynaptic L-type voltage-regulated calcium channel
Pregabalin has a higher bioavailability

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4
Q

Risk of patient with simple febrile seizures will develop epilepsy?

A

5%

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5
Q

Generalized epilepsy with febrile seizures + is assoc with what gene

A

SCN1A mutation (alpha subunit of a sodium channel)

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6
Q

Progressive myoclonic epilepsy are due to (2)
features
treatment?

A
  • lysosomal or mitochondrial disorders
  • cognitive decline, myoclonus (epilepstic and non epileptic), and seizures, and may be associated with ataxia or movement disorders
    VPA is first line always
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7
Q

VPA is a P450 inducer or inhibitor?

A

inhibitor

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8
Q

Normal PDR is seen at what age?

A

8-10

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9
Q

Ranges for each frequency on EEG

A

Beta > 14 Hz, alpha 8 - 13 Hz, delta 4-7 Hz, omega < 4 Hz

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10
Q

EEG in JME

A

4-6 Hz polyspike and wave

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11
Q

Benign rolandic epilepsy (also aka benign childhood epilepsy with centrotemporal spikes): EEG findings

A

bilateral independent centrotemporal spikes on normal background

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12
Q

West Syndrome triad?

A

Hypsarrhythmia
Infantile Spasms
psychomotor arrest/aggression

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13
Q

Causes of West Syndrome? Treatment?

A

ischemic injuries, brain malformations, congenital or acquired infections, chromosomal abnormalities, and inborn errors of metabolism

ACTH or Vigabtrin

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14
Q

Lamotrigine and OCP interaction

A

Only OCPs with estrogen ethinylestradiol interact -> inc clearance/decreases blood concentration of LTG

Progesterone containing OCPs are gucci

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15
Q

MOA of lacosamide

A

slow inactivation of voltage gated Na channels

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16
Q

Rufinamide: MOA, cleared by, approved for?

A

Na channels: prolongs the inactive state of Na channels
renal clearance
adjunct tx for LGS

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17
Q

Mesial Temporal Sclerosis semiology

A
  • Behavioral arrest, preceded by aura (rising epigastric sensation, nausea, olfactory and or gustatory hallucinations, a sensation of fear or terror, or other emotional changes)
  • Autonomic manifestations: tachycardia, resp changes, face flushing, pallor…
  • Dymnesic manifestations: deja vu, deja entendu, jamais vu, jamais entendu, panoramic vision (a rapid recollection of episodes in the past)
  • Automatism (nose picking, lip smacking, chewing, and picking with the hands)
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18
Q

Aicardi Syndrome:

Inheritance

features (triad)

Boys or girls?

A

X linked dominant

Infantile spasms, chorioretinal lacunae and agenesis of the corpus callosum

lethal in boys, typically only girls

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19
Q

Doose Syndrome

Onset

features

Treatment

A

Myoclonic-astatic epilepsy

1-5yo

normal prior to seizure onset, then develop generalized seizures (myoclonic or atonic usually).

VPA is first line

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20
Q

Dravet’s Syndrome

initial pres and features

assoc with mutation of

Treatment

A

initially presents with a febrile seizure in first year of life that develops into partial or generalized sz and developmental delay

SCN1A

VPA, TPM, ZNS, ketogenic diet

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21
Q

Which drugs worsen Dravet Syndrome (4)

A

PB

Phenytoin

CBZ

LTG

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22
Q

Ohtahara Syndrome

age group

presentation

prognosis

A

Early infantile epileptic encephalopathy

1day-3mo

tonic spasms occurring multiple times a day with interictal EEG showing encephalopathy

poor prognosis

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23
Q

Benign myoclonic epilepsy of infancy

males/females

onset

features

EEG

Tx?

A

males

4mo-3y

brief myoclonic seizures that are easily treatable and do not cluster

Interictal EEG is normal

Treat with VPA, resolves in a year usually

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24
Q

Difference between Ohtahara EEG and Benign myoclonic epilepsy

A

Ohtahara has an ABNORMAL interictal EEG.

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25
Q

Benign neonatal seizures

onset

features

assoc with

treatment

A

day 5ish

partial tonic clonic seizures

associated with apnea spells

No need to treat, resolves by 4-6 weeks

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26
Q

Panayiotopoulos Syndrome

Onset

features

EEG

Tx

A

Early onset childhood occipital epilepsy

seizures consist of tonic eye deviation and vomiting, visual auras and occur during sleep

EEG with occipital spikes which disappear with eye opening and reappear with eye closure

No tx needed, good prog

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27
Q

Gastaut type childhood occipital epilepsy

A

same as Panayiotopoulos but later onset (8yo)

usually benign, AEDs sometimes needed

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28
Q

Lennox Gastaut Syndrome

Features

onset

Tx

A

Triad of multiple seizure types (atypical absence, tonic, atonic, myoclonic and GTC), EEG with diffuse slow 1-2Hz spike and wave complexes, cognitive delay

1-8yo (sometimes normal before seizure onset)

VPA and clonazepam are first line (can also use LTG, felbamate, TPM, vigabatrin)

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29
Q

Landau Kleffner Syndrome

Features

Age

Tx

A

acquired epileptic aphasia- aphasia assoc with epileptic patterns on EEG and seizure of various types

2-11yo

VPA or LTG

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30
Q

Autosomal nocturnal frontal lobe epilepsy

Features

EEG

Assoc with gene mutation?

Tx

A

bizarre episodic behaviors in the context of hypermotor seizures (thrashing and jerking) that occur during non-REM sleep

EEG with epileptic activity during motions and normal interictally.

Assoc with nicotinic ACH receptors (CNRNA4 and CHRNB2)

CBZ or OXC

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31
Q

Electrical Status Epilepticus during slow wave sleep (ESES)

Features

EEG

A

children with psychomotor impairment and multiple seizure types that occur more often during sleep

  • EEG shows slow spikes-wave complex occurring during non-REM sleep occupying at least 85% of slow-wave sleep time
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32
Q

Progressive Myoclonic Epilepsies (5)

A
  • Unverricht– Lundborg syndrome
  • Lafora body disease
  • MERRF
  • sialidosis Type 1 and 2
  • Neuronal ceroid lipofuscinosis
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33
Q

Unverricht-Lundborg Syndrome

inheritance

age

mutation

presentation

Tx

A

autosomal recessive

6-15yo

mutation in CSTB gene to make cystatin B

stimulus sensitive myoclonus, eventually progressing to focal and generalized seizures and neurologic deterioration: ataxia, tremors, cognitive decline

VPA, clonazepam, LEV, ZNS

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34
Q

Which ASMs make Unverricht-Lundborg seizures worse

A

myoclonic so phenytoin, LTG, carbamazepine, oxcarbazepine, vigabatrin, tiagabine, gabapentin, and pregabalin

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35
Q

MERRF (mitochondrial epilepsy with ragged red fibers)

features

A

mitochondrial disorder consisting of myoclonic seizures +

migraine, short stature, ataxia, cog delay, deafness, elevated lactate, proximal muscle weakness suggestive of myopathy

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36
Q

Salidosis Type 1

mutation

features

A

alpha neuraminidase deficiency

action myoclonus, slowly progressive ataxia, GTC, vision loss

fundoscopic exam with cherry red spot

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37
Q

Sialidosis Type 2

mutation

features

A

NEU1 gene on chromosome 6 (deficiency of N-acetyl neuraminidase and beta-galactosialidase)

myoclonus with coarse features, corneal clouding, hepatomegaly, skeletal dysplasia and learning disabilties.

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38
Q

Lafora Body Disease

inheritance

mutation

features

micro

A

auto rec

EPM2A on chromosome 6

generalized and focal myoclonic seizures, transient blindness and visual hallucinations

PAS+ intracellular inclusion bodies

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39
Q

Simple febrile seizure

A

generalized, usually isolated, and lasting less than 15 mins

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40
Q

complex febrile seizure

A

more than 15 mins

focal features, multiple times within 24 hour period

higher risk of subsequent epilepsy

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41
Q

Recurrent febrile seizures may occur if

A

family hx of FS

<18 mo at time of first FS

lower peak temperature and shorter duration of fever prior to first FS

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42
Q

Rasmussen Encephalitis: mutation

A

Ab against GluR3 subunit of the AMPA receptor

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43
Q

Risk factors that increase the chance of SJS after initiation of ASMs like CBZ, LTG

A

Asian decent

HLA-B 1502

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44
Q

Normal sleep consists of how many cycles of NREM/REM

A

4-6

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45
Q

Characteristics of sleep stage 1

A

attenuation of occipital predominant alpha rhythm

can see POSTs and vertex waves

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46
Q

Characteristics of sleep stage 2

A

presence of K complexes, sleep spindles

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47
Q

Characteristics of sleep stage 3

A

slow wave sleep, delta range

48
Q

Characteristics of REM sleep

A

rapid eye movements, sawtooth waves, atonic muscles (except for diaphragm and extraocular muscles)

49
Q

Amount of time in REM sleep increases or decreases with age?

A

DEC

50
Q

What drug notoriously reduces length of REM cycles and increases REM latency?

A

SSRI

51
Q

OSA is diagnosed based on

A

AHI = complete cessation or reduction of airflow for at least 10 seconds

5-15 = mild

15-30 = mod

30+ = severe

52
Q

REM sleep behavior disorder is highly associated with?

A

alpha synucleinopathies

Parkinson, MSA, Lewy Body Dementia

53
Q

Low HR in REM is a sign of

A

dysautonomia

54
Q

NonREM parasomnias typically occur in what stage? Examples of these

A

Stage 3

confusional arousal, sleep walking, sleep terrors

55
Q

Kleine-Levin Syndrome

Features

A

recurrent episodes of hypersomnia that occur weeks/months apart that last for several days to weeks.

Episodes consist of 18-20 hours of sleep a day, hyperphagia (eating a lot) and hyper-sexuality

In between episodes patients have normal sleep behavior

56
Q

Narcolepsy diagnostic criteria

A

Excessive daytime sleepiness + any of these

  1. Mean sleep latency <8 min on MSLT with >2 sleep onset REM periods
  2. REM sleep latency < 15 mins on PSG
57
Q

Narcolepsy with cataplexy (aka Narcolepsy Type 1) is characterized by? Assoc with

A

episodes with sudden loss of motor tone of voluntary muscles

Assoc with low CSF hypocretin

58
Q

Low CSF hypocretin assoc with Narcolepsy with cataplexy comes from?

A

loss of hypocretin int the lateral hypothalamus

(not seen in narcolepsy without cataplexy)

59
Q

Treatment for narcolepsy with cataplexy?

A

First line is gamma-hydroxybutyrate

others are TCAs, SSRIs

60
Q

RLS is associated with a deficiency of

A

iron, ferritin is typically less than 50

61
Q

Normal Direct movement pathway

A

Excitatory pathway

  • striatum + GPi+ SNr+ thalamus
  • Normally causes inhibition of GPi and SNr which results in less inhibition of the thalamus and increasing thalamic outflow to the cortex
62
Q

Normal indirect movement pathway

A

Inhibitory Pathway

  • Striatum + GPe + STN + GPi + thalamus
  • In this pathway, striatum inhibits GPe cousing less inhibition of sub thalamus which will activate the GPi and SNi which will inhibit the thalamus
  • Ultimately the indirect pathway will decrease the thalamic outflow to the cortex
63
Q

Major outflow of the basal ganglia arises in the

A

globus pallidus interna

64
Q

In PD, what happens to these BG pathways?

A
  • the substantial nigra pars compacts projects to the striatum, inhibiting the indirect pathway and exiting the direct pathway (in the case of PD)
65
Q

Hyperkinetic movement disorders result from ?

A

reduced activity in the indirect pathway

66
Q

Hypokinetic movement disorders result from

A

reduced action in the direct pathway

67
Q

D1 receptors are involved mainly in what pathway

A

direct

68
Q

D2 receptors are involved mainly in what pathway

A

indirect

69
Q

PD with dementia is a diagnosis made when

A

the patient meets criteria for idiopathic PD for at least 1 year before dementia onset

70
Q

Mutations involved in hereditary PD?

A
  • α-synuclein (PARK1 gene), leading to abnormalities in synaptic vesicle trafficking. Autosomal dominant, young onset.
  • Parkin (PARK2 gene), a ubiquitin E3 ligase. Autosomal recessive, juvenile onset.
  • Leucine-rich repeat kinase 2 (LRRK2 and PARK8 gene). The LRRK2 mutation is one of the most common causes of familial PD. Autosomal dominant
71
Q

MOA of entocapone

A

COMT inhibitor

(inhibit conversions of dopamine to its metabolite, extending its half life and reducing “off” periods and increasing “on” periods)

72
Q

MOA of carbidopa

A

decreases conversion of peripheral dopamine so it can cross BBB

73
Q

MOA of pramipexole and ropinirole

A

D2/D3 agonists

74
Q

MOA of rasagiline and selegiline

A

MAO-B inhibitors

75
Q

MOA of trihexyphenidyl

A

Anticholinergic used only for tremors

76
Q

MOA of amantadine

A

(antagonist of NMDA): anti-glutaminergic

77
Q

SE of dopamine agonists

A

sedation, LE edema, impulse control problems

78
Q

SE of levodopa

A

dyskinesias and choreiform movements, which develop the longer you take the medication and as dosages increase

79
Q

DBS for PD is effective in reducing what symptoms, and ineffective in what else?

A

reducing tremor and bradykinesia

but not in improving gait, falls, or axial sx

80
Q

Contraindications to DBS for PD?

A

cognitive dysfunction, can worsen it significantly

81
Q

nuclei targeted in DBS for PD?

A

subthalamic nucleus and globus pallidus interna

82
Q

What nuclei can be targeted with DBS in PD for tremor dominant PD?

A

ventral intermediate nucleus

83
Q

Potential fatal feature that can occur in MSA is?

A

laryngeal dystonia

84
Q

Hot cross buns sign is seen in? Due to?

A

MSA

neuronal loss in the pons and pontocerebellar tracts with intact corticospinal tracts

85
Q

Features of corticobasal syndrome

A

focal limb rigidity and/or dystonia, cortical myoclonus, cortical sensory loss, alien limb

86
Q

Unilateral lesion in the substantia nigra will cause?

A

contralateral hemiparkinsonism

87
Q

Toxicities that can cause parkinsonism?

A

Manganese and CO

88
Q

Manganese toxicity

population

features

imaging

A

seen in welders/miners, patients with chronic liver disease, and on TPN.

parkinsonism, typical gait cock walk (toe walking with elbow flexion)

hyperintense BG on T1

89
Q

Essential tremor

inheritance

Tx options

Resistant tx

A

AD
propranolol, primidone are main. Then you have gabapentin, atenolol, topiramate, benzos

If resistant → DBS to the ventral intermediate nucleus of thalamus

90
Q

Huntingtons Disease

mutation

Tx

A

CAG repeat

antidopaminergics like tetrabenazine and atypical antipsychotics

91
Q

Rubral tremor

features

caused by

A

aka Holmes tremor

low frequency tremor present at rest, with posture and with action

lesion in the dentate nucleus of the cerebellum, or superior cerebellar peduncle

92
Q

Tourette’s Syndrome

assoc with

possible MOA

tx

A

ADHD and OCD

thought to involve dopaminergic hyper stimulation of the ventral striatum and limbic system

Tx with antidopaminergic agents like haloperidol, pimozide, clonidine

93
Q

Wilson’s Disease

mutation

labs

features

MRI findings

tx

A
  • Mutation of gene encoding the copper transporting P type ATPase ATP7N on Xome 13 ( the enzyme usually transports copper across membranes)
  • low ceruloplasmin, high urine copper
  • parkinsonism, dystonia, tremor, ataxia, dysarthria
  • Double panda sign: inc T2 signal in caudate and putamen while sparing red nucleus
  • tx with D-penicillamine , zinc and low copper diet
94
Q

Sydenham chorea

typically after

treat with

A

GBS infection

antidopaminergics

95
Q

Chorea acanthocytosis

mutation

features

wet smear shows

A

VPS13A on chromosome 9

  • orolingual dystonia, chorea, self mutilating behavior, cognitive decline with dementia, dysarthria, ophthalmoplagia, seizures

acanthocytes (speculated RBCs on wet smear)

96
Q

trick to relieve sx of focal dystonia? main treatment of dystonia

A

gest antagoniste

  • a sensory trick (geste antagoniste) such as touching the face or head or positioning the head in a specific manner against an object, may partially relieve Sx
  • Main tx is botox
97
Q

Meige’s Syndrome

A

blepharospasm + oromandibular dystonia

98
Q

Tolosa Hunt Syndrome

what is it

features

tx

A

Inflammation of cavernous sinus

  • episodic orbital pain associated with paralysis of one or more of the third, fourth, and/or sixth cranial nerves, which usually resolves spontaneously
  • responds to steroids
99
Q

Palatal myoclonus

what is it

A
  • Audible palatal clicks due to Eustachian tube contraction
  • Persist during sleep
  • Affects the Guillain-Malloret triangle (dentate nucleus, inferior olive and the red nucleus)
100
Q

Hemifacial spasm can be caused by?

A

compression of CN 7, or sometimes demyelination of CN7.

Blink reflex is also usually affected.

101
Q

Paroxysmal kinesigenic dyskinesia (PKD)

features

tx

A

episodes of hyperkinetic abnormal movements for seconds to about 5 mins (dystonia, chorea, ballism, dysarthria) with intervening normalcy

responds well to ASMs, usually CBZ

102
Q

Paroxysmal nonkinesigenic dyskinesia

features

A

attacks last 2mins - hours

do not respond well to tx

103
Q

Paroxysmal exertion dyskinesia (PED)

features

mut

tx

A

episodes of hyperkinetic abnormal movement assoc with exercise and last 5-30min

mutation in GLUT-1

keto diet can decrease frequency

104
Q

Features of dopa-responsive dystonias

A

diurnal variation

sx more severe at end of day and improved in the morning. Sx also commonly start at the feet and become generalized

strongly responsive to levodopa

105
Q

Stiff person syndrome

features

antibody

tx

A
  • Characterized by increased tone affecting predominantly the axial muscles, including the paraspinal muscles, leading to exaggerated lumbar lordosis, in addition to abdominal muscles, leading to a “board-like” abdomen, exaggerated startle response.
  • assoc with GAD ab
    • tx with benzos or baclofen
106
Q

Paraneoplastic type of stiff person syndrome is assoc with

A

antiamphiphysin

107
Q

Main output cell of the cerebellum? inhibitory/excitatory? NT?

A

purkinje

inhib

GABA

108
Q

alcohol predominantly affects what part of the cerebellum and thus causes?

A

midline vermis

truncal ataxia

109
Q

Freidrich’s ataxia

inheritance, mutation

features

A

AR

GAA repeat in gene that encodes frataxin on chromosome 9

cerebellar dysfunction, neuropathy, upper motor neuron findings, high-arched feet and spinal deformities, Cardiac involvement (conduction abnormalities and hypertrophic cardiomyopathy)

110
Q

What med can improve the HCM seen in Friedrich’s ataxia

A

Idebenone, a Coenzyme q10 analog

111
Q

Which medications can worsen absence seizures?

A

Phenytoin, gabapentin, carbamazepine, and LTG

112
Q

Formula for replacing phenytoin/VPA?

A

(target level (15) - current level) X (weight in KG x volume of distribution(usually 0.8))
For example in someone who is 75kg and level of 10, would need 300mg load.

Depakote is same formula except volume of distribution is 0.2

113
Q

Name the CYP inducers?

A

CBZ
PB
PHY
OXC
vigabatrin

114
Q

which receptor do benzos act on?

A

GABA-A receptors

115
Q

MOA of lacosamide (more specific)

A

enhances slow inactivation of voltage dependent sodium channels, resulting in inhibition of neural firing and stabilization of hyperexcitable neuronal membranes.

**It is also known to interfere with CRMP-2 (collapsing response mediator transporter-2), a cell protein involved in neuronal differentiation and axonal guidance.

116
Q

gelastic seizures originate where?

A

hypothalamus

Eugenie Notes (10 decks)

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