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Neuro > NMJ disorders, sleep, mitochondrial encephalopathies > Flashcards

NMJ disorders, sleep, mitochondrial encephalopathies Flashcards

1
Q

Spinal muscular atrophy on EMG will present as _

A

Spinal muscular atrophy on EMG will present as fibrillation potentials, denervation, and increased amplitude of motor unit potentials

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2
Q

Fatiguing ptosis, double vision, dysarthria, dysphagia, and general weakness after muscle use is classic for [NMJ disorder]

A

Fatiguing ptosis, double vision, dysarthria, dysphagia, and general weakness after muscle use is classic for myasthenia gravis

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3
Q

Classic signs for lambert-eaton syndrome include _

A

Classic signs for lambert-eaton syndrome include slowly progressive leg weakness, constipation, dry mouth
* Sometimes see ptosis and diplopia

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4
Q

Botulism involves rapid [direction] paralysis with respiratory failure, constipation, and mydriasis

A

Botulism involves rapid descending paralysis with respiratory failure, constipation, and mydriasis
* Ocular, bulbar, extremities

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5
Q

Ascending paralysis with areflexia and sensory loss is suggestive of _

A

Ascending paralysis with areflexia and sensory loss is suggestive of guillain-barre

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6
Q

Botulism affects the [proteins]

A

Botulism affects the SNARE proteins
* Decreases release of Ach

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7
Q

Myasthenia gravis exerts its effects via [mechanism]

A

Myasthenia gravis exerts its effects via antibodies to the post-synaptic Ach receptors

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8
Q

Lambert-eaton myasthenic syndrome exerts its effect via [mechanism]

A

Lambert-eaton myasthenic syndrome exerts its effect via antibodies against voltage-gated Ca2+ on presynaptic membrane

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9
Q

(MG/LES) is associated with reduced Ach release

A

LES is associated with reduced Ach release

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10
Q

(MG/LES) symptoms can transiently improve after brief activation

A

LES symptoms can transiently improve after brief activation

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11
Q

Edrophonium and ice pack tests can be used for the diagnosis of _ (will cause improvement of symptoms)

A

Edrophonium and ice pack tests can be used for the diagnosis of myasthenia gravis (will cause improvement of symptoms)

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12
Q

MG is associated with underlying [condition]

A

MG is associated with underlying thymoma

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13
Q

LES is associated with underlying [condition]

A

LES is associated with underlying small cell lung carcinoma

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14
Q

Three anticholinesterase drugs that cross the BBB and can be used for Alzheimer disease:

A

Three anticholinesterase drugs that cross the BBB and can be used for Alzheimer disease: Dona Riva dances at the gala
1. Donepezil
2. Rivastigmine
3. Galantamine

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15
Q

_ is an anticholinesterase drug that we historically used to diagnose MG

A

Edrophoniumis an anticholinesterase drug that we historically used to diagnose MG
* Has since been replaced by anti-AchR antibody testing

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16
Q

_ is a long acting anticholinesterase that is used to treat MG; though it is a bandaid treatment

A

Pyridostigmine is a long acting anticholinesterase that is used to treat MG; though it is a bandaid treatment
* Increases Ach –> improves muscle strength
* Does not cross the BBB

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17
Q

MG on EMG will show _

A

MG on EMG will show amplitude decrement on repetitive nerve stimulation

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18
Q

_ and _ are two antibiotic classes that should be avoided in patients with MG

A

Aminoglycosides and Fluoroquinolones are two antibiotic classes that should be avoided in patients with MG
* Magnesium and beta blockers should also be avoided

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19
Q

Muscle weakness in LES tends to be in [location] > [location] and symmetric

A

Muscle weakness in LES tends to be in legs > arms and symmetric
* Will see areflexia or hyporeflexia

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20
Q

Botulism in adults involves the ingestion of _ ; while in babies it is caused by ingestion of _

A

Botulism in adults involves the ingestion of pre-formed toxin ; while in babies it is caused by ingestion of spores
* Treat with immunoglobulin (infant) or anti-toxin (adult)

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21
Q

Botulism affects [NT] release

A

Botulism affects Ach release

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22
Q

_ waves (1-3 Hz) are seen in stage N3

A

Delta waves (1-3 Hz) are seen in stage N3

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23
Q

_ waves (4-7) are seen in stage N1

A

Theta waves (4-7) are seen in stage N1
* Mild slowing, meditation

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24
Q

_ waves (8-13 Hz) are normal background waves

A

Alpha waves (8-13 Hz) are normal background waves

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25
Q

_ waves (> 13 Hz) are present during conscious thought, logical thinking, benzo use

A

Beta waves (> 13 Hz) are present during conscious thought, logical thinking, benzo use
* Awake and alert

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26
Q

Stage N1 is associated with _ waves

A

Stage N1 is associated with theta waves
* This is light sleep, easy to wake

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27
Q

Stage N2 is associated with _ waves

A

Stage N2 is associated with sleep spindles and K complexes
* This is the largest percentage of sleep
* Bruxism (twooth-grinding)

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28
Q

Stage N3 is associated with _ waves

A

Stage N3 is associated with delta waves
* Most prominent in first-half of night
* This is the deepest non-REM sleep

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29
Q

Sleepwalking, night terrors, and bedwetting are all associated with [sleep stage]

A

Sleepwalking, night terrors, and bedwetting are all associated with stage N3
* Can also see confusional arousals during N3

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30
Q

Bruxism is associated with [sleep stage]

A

Bruxism is associated with stage N2

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31
Q

REM stands for _

A

REM stands for rapid eye movement sleep

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32
Q

Dreaming, nightmares, and penile/clitoral tumescence occur during [sleep stage]

A

Dreaming, nightmares, and penile/clitoral tumescence occur during REM sleep

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33
Q

REM sleep occurs approximately every 90 minutes, with increased duration [when?]

A

REM sleep occurs approximately every 90 minutes, with increased duration as night progresses (longer REM towards the morning)

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34
Q

REM sleep involves [brain waves]

A

REM sleep involves beta waves
* Memory processing occurs
* Loss of motor tone
* Increased brain O2 use
* Variable pulse/BP
* Extraocular movements (PPRF)

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35
Q

As we age, we have _ N3 and REM

A

As we age, we have decreased N3 and REM

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36
Q

_ is the region in the hypothalamus that receives retinal inputs and serves to regulate circadian rhythms based on external light cycles

A

Suprachiasmatic pathway (SCN) is the region in the hypothalamus that receives retinal inputs and serves to regulate circadian rhythms based on external light cycles

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37
Q

The _ pathway is important for pupillary light reflex and accommodation

A

The pretectal pathway is important for pupillary light reflex and accommodation

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38
Q

Tectal (superior colliculus) pathway is needed for _

A

Tectal (superior colliculus) pathway is needed for reflexive head and eye movement

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39
Q

[NT] is particularly involved in movement, learning, memory, arousal, sleep

A

Ach is particularly involved in movement, learning, memory, arousal, sleep

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40
Q

[NT] is involved in reward, pleasure, planning, cognition, movement

A

Dopamine is involved in reward, pleasure, planning, cognition, movement

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41
Q

[NT] is important for mood, appetite, arousal, sleep-wake cycles, descending pain modulation

A

Serotonin is important for mood, appetite, arousal, sleep-wake cycles, descending pain modulation

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42
Q

[NT] is implicated in attention and arousal and is made in locus coeruleus

A

NE is implicated in attention and arousal and is made in locus coeruleus

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43
Q

The nigrostriatal pathway goes from _ to _

A

The nigrostriatal pathway goes from substantia nigra to striatum

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44
Q

The mesolimbic system includes _ to _

A

The mesolimbic system includes ventral tegmental area to nucleus accumbens & limbic system

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45
Q

The mesocortical pathway extends from _ to _

A

The mesocortical pathway extends from VTA to cortex

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46
Q

The SCN receives direct input from the _ and releases [NT] in response

A

The SCN receives direct input from the retina and releases NE in response –> tells pineal gland to secrete melatonin
* The SCN also controls the secretion of melatonin

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47
Q

The majority of slow wave sleep occurs in the _ of night while the majority of REM sleep occurs in the _

A

The majority of slow wave sleep occurs in the first part of night while the majority of REM sleep occurs in the second half

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48
Q

Normal sleep begins in _ , those with narcolepsy enter sleep directly into _

A

Normal sleep begins in N1-> N2 -> N3/4 -> REM , those with narcolepsy enter sleep directly into REM

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49
Q

Advanced sleep phase disorder involves _

A

Advanced sleep phase disorder involves early evening sleepiness and early morning awakening

50
Q

_ sleep-phase disorder is common in adolescents and teenagers

A

Delayed sleep-phase disorder is common in adolescents and teenagers

51
Q

Insomnia is defined as _

A

Insomnia is defined as difficulty getting to sleep or staying asleep or having non-refreshing sleep for at least 1 month (acute) or 3 months (chronic)

52
Q

Obstructive sleep apnea is produced by _ and risk factors include _

A

Obstructive sleep apnea is produced by obstruction of upper airway and risk factors include age, obesity, alcohol, supine sleep

53
Q

Narcolepsy is caused by an absence or reduction of _ , brain chemicals that help sustain alertness and prevent REM sleep

A

Narcolepsy is caused by an absence or reduction of orexin (hypocretin), brain chemicals that help sustain alertness and prevent REM sleep

54
Q

Narcolepsy is associated with [HLA marker]

A

Narcolepsy is associated with HLA-DQB1 0602

55
Q

Name the four main features of narcolepsy

A

Name the four main features of narcolepsy:
1. Excessive sleepiness
2. Cataplexy
3. Sleep paralysis
4. Hypnic hallucinations

56
Q

Type I narcolepsy involves _ , which is a condition by which emotion causes sudden muscle weakness

A

Type I narcolepsy involves cataplexy , which is a condition by which emotion triggers sudden muscle weakness

57
Q

Hypnagogic hallucinations (narcoplepsy) occur [when?]

A

Hypnagogic hallucinations (narcoplepsy) occur at onset of sleep

58
Q

Hypnopompic hallucinations (narcolepsy) occur [when?]

A

Hypnopompic hallucinations (narcolepsy) occur at end of sleep, while waking up

59
Q

_ is a condition involving a crawling sensation or urge to move the legs during rest

A

Restless leg syndrome is a condition involving a crawling sensation or urge to move the legs during rest

60
Q

Check [lab value] in patients with restless leg syndrome

A

Check ferritin & iron saturation in patients with restless leg syndrome
* Often associated with iron deficiency
* Replace iron
* Or treat w gaba, pregabalin, ropinirole

61
Q

REM sleep behavior disorder is associated with _ proteinopathies

A

REM sleep behavior disorder is associated with alpha-synuclein proteinopathies
* Lewy body dementia
* Parkinson disease
* It involves loss of normal muscle atonia during REM –> acting out dreams

62
Q

Benzos are helpful for the treatment of sleepwalking and night terrors because they _

A

Benzos are helpful for the treatment of sleepwalking and night terrors because they decrease N3 and REM sleep

63
Q

Nonbenzodiazepine hypnotic drugs include _

A

Nonbenzodiazepine hypnotic drugs include:
* Zolpidem
* Zaleplon
* Eszopiclone

These work by BZ1 GABA receptor

64
Q

[Hypnotic drug] is a melatonin receptor agonist

A

Ramelteon is a melatonin receptor agonist (MT1-2 receptor)

65
Q

Suvorexant is a hypnotic drug that induces sleep by [mechanism]

A

Suvorexant is a hypnotic drug that induces sleep by antagonizing orexin receptors

66
Q

Benzos are drugs that facilitate GABAa action by _

A

Benzos are drugs that facilitate GABAa action by increasing frequency of Cl- channel opening
* “Frenzodiazepines”

67
Q

The short acting benzos can be remembered with the mneumonic _

A

The short acting benzos can be remembered with the mneumonic ATOM
* Alprazolam
* Triazolam
* Oxazepam
* Midazolam

The others have active metabolites and long half life

68
Q

Barbituates faciliate GABAa action by _

A

Barbituates faciliate GABAa action by increasing duration of Cl- channel opening

69
Q

Recall the many reactions that take place in the inner membrane/matrix of the mitochondria:

A

Recall the many reactions that take place in the inner membrane/matrix of the mitochondria:
* TCA cycle
* Acetyl-CoA production
* Ketogenesis
* Fatty acid oxidation

Therefor metabolites are kept away from the rest of the cell

70
Q

Recall that the ETC takes place in the _

A

Recall that the ETC takes place in the inner membrane of mitochondria
* Isolates metabolic processes in the cell
* This limits the exposures of toxic substances to the rest of the cell

71
Q

Unlike the nuclear genome, the mitochondrial genome is [shape], [size], and replication is _

A

Unlike the nuclear genome, the mitochondrial genome is circular, small, and replication is asynchronous to mitochondrial fission and mitosis
* Recall that mitochondrial DNA only comes from mom

72
Q

Mitochondrial DNA will have far more mutations than nuclear DNA due to _

A

Mitochondrial DNA will have far more mutations than nuclear DNA due to less proofreading, faulty polymerase, exposure to ROS

73
Q

_ is when a variant exists on some, but not all copies of the mitochondrial genome

A

Heteroplasmy is when a variant exists on some, but not all copies of the mitochondrial genome
* As opposed to homoplasmy
* We use these terms instead of homo/heterozygous because mitochondria are not diploid

74
Q

The fact that a certain amount of heteroplasmy may be tolerated without clinical effect is called _ ; heteroplasmy can change over time and external factors can change the threshold (especially metabolic stress)

A

The fact that a certain amount of heteroplasmy may be tolerated without clinical effect is called Threshold effect
* Heteroplasmy can change over time and external factors can change the threshold (especially metabolic stress)

75
Q

Mitochondrial disorders are typically progressive, triggered by _ , and affect tissues with high energy requirement like _

A

Mitochondrial disorders are typically progressive, triggered by metabolic stress , and affect tissues with high energy requirement like skeletal/cardiac muscle, nerves, liver, kidney, GI, endocrine glands

76
Q

Mitochondrial disorders may have [non-specific lab finding]

A

Mitochondrial disorders may have elevated lactate/ pyruvate

77
Q

Leigh syndrome is also called _ ; it is characterized by developmental delay or regression, hypotonia, dysphagia, bilateral spongiform lesions in the brain

A

Leigh syndrome is also called subacute necrotizing encephalomyopathy ; it is characterized by developmental delay or regression, hypotonia, dysphagia, bilateral spongiform lesions in the brain
* It exhibits locus heterogeneity

78
Q

MELAS stands for _

A

MELAS stands for Myopathy, Encephalopathy, Lactic acidosis, Stroke-like episodes
* The mechanism is unclear but usually presents in childhood with stroke-like signs (hemiplegia, hemianopsia)
* MRS can show elevated lactate

79
Q

MERRF stands for _

A

MERRF stands for Myoclonic Epilepsy with Ragged Red Fibers
* The ragged red fibers are abnormal mitochondrial aggregates below plasma membrane of muscle fibers

80
Q

The first symptom of MERRF is usually _ followed by:

A

The first symptom of MERRF is usually myoclonus + cerebellar ataxia followed by:
* Epilepsy
* Myopathy and exercise intolerance
* Hearing loss
* Dementia
* Optic atrophy

81
Q

Consciousness requires both awareness via a normal “hard drive” _ , and arousal via a functional on switch _

A

Consciousness requires both awareness via a normal “hard drive” one functioning cerebral hemisphere , and arousal via a functional on switch reticular activating system

82
Q

“Unarousable unresponsiveness” defines _

A

“Unarousable unresponsiveness” defines coma
* Could be a lesion that destroys large area of cortex or RAS in brainstem

83
Q

Persistent vegetative state describes a patient who is _

A

Persistent vegetative state describes a patient who is arousable (eyes open) but impaired responsiveness/awareness

84
Q

Minimally conscious state defines a patient who is _

A

Minimally conscious state defines a patient who is intact arousal with minimal reponsiveness/awareness

85
Q

_ occurs from a lesion affecting the ventral pons or caudal midbrain that causes quadriplegia, bulbar palsy, and impaired horizontal gaze

A

Locked-in syndrome occurs from a lesion affecting the ventral pons or caudal midbrain that causes quadriplegia, bulbar palsy, and impaired horizontal gaze
* The RAS lies dorsal so it is spared
* Consciousness, vertical eye movement, blinking, hearing are preserved

86
Q

Locked-in syndrome is commonly caused by thrombosis of the _ artery

A

Locked-in syndrome is commonly caused by thrombosis of the basilar artery

87
Q

Oculocephalic reflex requires [2 CNs]

A

Oculocephalic reflex requires CN III, VI
* Dolls eye reflex

88
Q

Nerve V1 is involved in _ reflex

A

Nerve V1 is involved in corneal reflex

89
Q

Touching the eye for corneal reflex requires [CN] to sense, and [CN] for blink

A

Touching the eye for corneal reflex requires CN V to sense, and CN VII for blink

90
Q

Loss of the (motor) corneal reflex suggests _ nerve palsy

A

Loss of the (motor) corneal reflex suggests facial nerve palsy

91
Q

Loss of gag reflex may indicate lesion of [CN] or [CN]

A

Loss of gag reflex may indicate lesion of glassopharyngeal or vagus nerve

92
Q

Gag reflex involves [CN] to sense and [CN] to trigger gag

A

Gag reflex involves CN IX to sense and CN X to trigger gag

93
Q

In the pupillary reflex test, [CN] senses light, [CN] constricts the pupil

A

In the pupillary reflex test, CN II senses light, CN III constricts the pupil

94
Q

Lacrimation requires [afferent CN] and [efferent CN]

A

Lacrimation requires V1 and VII

95
Q

Cold calorics involves [CNs]

A

Cold calorics involves CN VIII, III, VI

96
Q

Jaw jerk involves [afferent CN] and [efferent CN]

A

Jaw jerk involves V3 sensory and V3 motor

97
Q

[Extrapyramidal tract] is responsible for upper extremity flexor tone

A

Rubrospinal tract is responsible for upper extremity flexor tone
* Red nucleus –> spinal cord
* Recall the red nucleus is in rostral midbrain

98
Q

[Extrapyramidal tract] is responsible for upper extremity extensor tone

A

Vestibulospinal tract is responsible for upper extremity extensor tone
* Vestibular nuclei –> spinal cord

99
Q

_ posturing happens when flexors > extensors

A

Decorticate posturing happens when flexors > extensors
* “Flex the core”

100
Q

_ posturing occurs when extensors > flexors

A

Decerebrate posturing occurs when extensors > flexors

101
Q

A lesion between the red nucleus and vestibulospinal tracts would result in _ posturing

A

A lesion between the red nucleus and vestibulospinal tracts would result in decerebrate posturing
* If you knock out the flexors, you see unopposed extension
* Extension of both arms and legs

102
Q

ID the red nucleus

A
103
Q

The vestibulo-ocular reflex works to stablize a visual image on the retina by _

A

The vestibulo-ocular reflex works to stablize a visual image on the retina by moving the eyes in the opposite direction of head movement

104
Q

The flocculonodular lobe sends information to the vestibular nuclei through the _ peduncle

A

The flocculonodular lobe sends information to the vestibular nuclei through the inferior peduncle

105
Q

Cold water in the ear mimics head movements _ irrigated ear

A

Cold water in the ear mimics head movements away from irrigated ear
* Slow eye movement will go towards the water, fast eye movement away in patient with functional vestibular system

106
Q

In a patient with a normal vestibular system, cold water causes _ quick phase/ nystagmus and warm water causes _ quick phase/ nystagmus

A

In a patient with a normal vestibular system, cold water causes opposite quick phase/ nystagmus and warm water causes same quick phase/ nystagmus
* COWS= cold, opposite; warm, same

107
Q

Therapeutic hyperventilation causes vaso (constriction/dilation)

A

Therapeutic hyperventilation causes vasoconstriction
* Decreased PCO2 –> vasoconstriction –> lowers cerebral blood flow

108
Q

Tight autoregulation of cerebral perfusion is primarily driven by _ levels

A

Tight autoregulation of cerebral perfusion is primarily driven by PCO2 levels

109
Q

Acute hypoxia/ energy failure of the brain –> _ –> cell necrosis & lysis

A

Acute hypoxia/ energy failure of the brain –> intracellular Na+ and Ca2+ accumulation –> osmotic swelling –> cell necrosis & lysis
* Also see release of glutamate and free radicals which are cytotoxic

110
Q

The most vulnerable areas of the brain to hypoxia are _

A

The most vulnerable areas of the brain to hypoxia are areas with high metabolic demand & high concentration of excitatory neurotransmitter receptors

111
Q

The very first area of brain injury during ischemia is _

A

The very first area of brain injury during ischemia is pyramidal neurons of hippocampus

112
Q

In addition to the hippocampus, other areas of early ischemic injury are:

A

In addition to the hippocampus, other areas of early ischemic injury are:
* Pyramidal neurons of cortex
* Basal ganglia
* Purkinje cells of cerebellum

113
Q

Irreversible neuronal injury begins after _ minutes of hypoxia

A

Irreversible neuronal injury begins after 5 minutes of hypoxia

114
Q

The most vulnerable areas to hypoxia can be remembered by mneumonic:

A

The most vulnerable areas to hypoxia can be remembered by mneumonic: vulnerable hippos need pure water
* Hippocampus
* Neocortex
* Purkinje of cerebellum
* Watershed areas

115
Q

In the first 12-24 hours after ischemic event the brain will show [histological features]

A

In the first 12-24 hours after ischemic event the brain will show eosinophilic cytoplasm + pyknotic nuclei (red neurons)

116
Q

In the first 24-72 hours after ischemic event the brain will show [histological features]

A

In the first 24-72 hours after ischemic event the brain will show necrosis + neutrophil infiltration

117
Q

In the first 3-5 days after ischemic event the brain will show [histological features]

A

In the first 3-5 days after ischemic event the brain will show neuronophagia + macrophages (anoxic neuron surrounded by microglial cells)

118
Q

In the first 1-2 weeks after ischemic event the brain will show [histological features]

A

In the first 1-2 weeks after ischemic event the brain will show reactive gliosis + vascular proliferation (gliosis = astrocytes)

119
Q

> 2 weeks after ischemic event the brain will show [histological features]

A

> 2 weeks after ischemic event the brain will show glial scar formation
* Glial scar is astrocytic processes, liquefactive necrosis, release of lysosomal enzymes

120
Q

About 1 week-1 month post ischemic event, the brain will undergo some _ necrosis

A

About 1 week-1 month post ischemic event, the brain will undergo some liquefactive necrosis

121
Q

Lesion above the red nucleus will result in _ posturing

A

Lesion above the red nucleus will result in decorticate posturing
* The rubrospinal and vestibulospinal will both be overactive
* Will see arm flexion, leg extension

Neuro (18 decks)

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