Neurobio physio Flashcards

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1
Q

Which gene is mutated in Sturge-Weber syndrome?

A

GNAQ

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2
Q

Define STURGE of Sturge-Weber

A

Sporadic, Tram track calcifications, Unilateral port-wine stain on V1/V2 region of face, Retardation (intellectual disability), Glaucoma and GNAQ gene, Epilepsy

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3
Q

Describe the HAMARTOMAS mnemonic in Tuberous Sclerosis

A
Hamartomas in CNS and skin
Angiofibromas
Mitral regurgitation
Ash-leaf spots
Rhamdomyomas
Tuberous Sclerosis
Autosomal D(O)minant
Mental retardation
renal Angiomyolipoma
Seizures, Shagreen patches
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4
Q

Neurofibromatosis I is inherited as

A

Autosomal Dominant

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5
Q

Individuals with Tuberous Sclerosis have an increased incidence of which neural tumor?

A

Subependymal astrocytomas

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6
Q

What is the function of NF1?

A

tumor suppressor gene that negatively regulates RAS

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7
Q

Sturge Weber sx and Neurofibromas are both derived from which progenitors?

A

Neural crest cells

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8
Q

Von Hippel Lindau disease causes which three tumors?

A

Hemangioblastomas, bilateral renal cell carcinomas, and pheochromocytomas

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9
Q

Describe the histology of glioblastoma multiforme

A

“Pseudopalisading” pleomorphic tumor cells bordering areas of necrosis. Stain for GFAP

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10
Q

Is glioblastoma multiforme benign or malignant?

A

malignant

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11
Q

Which cells do meningiomas typically arise from?

A

Arachnoid cells

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12
Q

How can hemangioblastoma lead to polycythemia?

A

Tumor produces erythropoetin

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13
Q

Which disease is affiliated with hemangioblastomas?

A

Von Hippel Lindau

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14
Q

Where do you usually find hemangioblastomas?

A

Cerebellum (expect ipsilateral sx with balance, coordination, ataxia, etc)

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15
Q

Where do you typically find Schwanomas?

A

Cerebellopontine angle

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16
Q

Which nerve do Schwannomas typically localize to?

A

CN VIII (expect hearing loss)

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17
Q

Bilateral vestibular schwannomas can be attributed to which condition?

A

NF-2

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18
Q

Where do oligodendrogliomas typically localize to?

A

Frontal lobes

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19
Q

Describe the histology of oligodendrogliomas

A

“Chicken wire” capillary pattern with “fried egg” cells

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20
Q

Which part of the brain do you typically find glioblastoma multiforme in?

A

Cerebral cortex

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21
Q

In children, where do you typically find astrocytomas

A

posterior fossa (cerebellum)

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22
Q

What is the prognosis for medulloblastoma in a child?

A

It is highly malignant, poor prognosis; can form noncommunicating hydrocephalus by compressing 4th ventricle

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23
Q

What is the prognosis of ependymal tumors in a child?

A

Poor, can cause hydrocephalus

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24
Q

Describe the histology of ependymomas

A

perivascular rosettes

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25
Q

Where is a craniopharyngioma typically found

A

supratentorial region; derived from remnants of Rathke pouch

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26
Q

Describe histopathology of craniopharyngioma

A

“Motor oil” like cholesterol cysts found within tumor

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27
Q

What is Parinaud syndrome?

A

Vertical gaze palsy, typically due to pinealoma

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28
Q

What is the germ cell origin of Pinealomas

A

Germinomas

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29
Q

What is the most common pinealoma

A

Prolactinoma

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30
Q

Which structure can a subfalcine herniation compress?

A

Anterior cerebral artery

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31
Q

What are the complications of a downward transtentorial herniation?

A

Downward displacement of brainstem, rupture of paramedian basilar artery branches, hemorrhages, death

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32
Q

What are the complications of an uncal herniation?

A

CN III palsy (mydriasis and down and out eye); ipsilateral PCA compression (contralateral homonymous hemianopia with macular sparing)

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33
Q

What is the complication of a cerebellar tonsillar herniation into the foramen magnum

A

Coma and death when compressing brainstem

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34
Q

Which electrolyte imbalances can promote seizures?

A

Hypogmagnesemia and hypocalcemia

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35
Q

Segmental axonal demyelination is seen in which condition

A

Guillan-Barre

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36
Q

Lambert-Eatoon Syndrome is associated with which malignancy?

A

Lung cancer

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37
Q

Perifascicular muscle inflammation is seen with which disease?

A

Dermatomyositis

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38
Q

Which compound is deficient in CSF for pts with narcolepsy?

A

Hypocretin-1 (Orexin A) and Hypocretin-2 (Orexin-B)

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39
Q

Define cataplexy

A

Conscious, brief episodes of sudden bilateral muscle tone loss triggered by emotions like laughter or joking

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40
Q

Where are hypocretin 1 and 2 secreted?

A

Lateral hypothalamus

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41
Q

What is the function of hypocretin (orexin)?

A

Wakefulness and inhibition of REM sleep-related phenomena

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42
Q

Low CSF levels of 5-hydroxyindole-acetic acid is associated with

A

impulsive, destructive behaviors (aggression, suicide, violence)

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43
Q

CSF elevation of 14-3-3 protein is diagnostic of

A

Cretuzfeldt-Jakob disaese

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44
Q

Melatonin levels in CSF are associated with

A

Progression of Alzheimer’s disease

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45
Q

Four major symptoms of cavernous sinus thrombosis

A

Headache, fever, diplopia (ptosis) and ocular muscle paralysis

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46
Q

Which cranial nerves traverse the cavernous sinus?

A

III, IV, VI, V1 and V2

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47
Q

What can cause cavernous sinus thrombosis?

A

Infections from medial third of face, sinuses or teeth (S aureus, strep, Mucor/Rhizopus)

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48
Q

Findings of jugular foramen lesions (Vernet syndrome)

A

Dysphagia, hoarseness, loss of gag reflex on ipsilateral side (CNs IX, X, XI defects)

49
Q

Which neurotoxins inhibit Na+ channels and depolarization?

A

Tetrodotoxin (puffer fish)

Saxitoxin (dinoflagellates in red tide)

50
Q

Which toxins bind Na+ channel and cause persistent depolarzation?

A

Ciguatoxin (exotic fish, Moray eel)

Batrachotoxin (South American frogs)

51
Q

Symptoms of tetrodotoxin poisoning

A

rapid onset dizziness, weakness, loss of reflexes, parasthesias of face, nausea, vomiting, diarrhea

52
Q

What is the pyriform recess?

A

small cavities that lie on either side of laryngeal orifice; foreign bodies (fish bones) can become lodged here

53
Q

Which nerve has the potential to get injured in the pyriform recess

A

Internal laryngeal nerve (CN X)

54
Q

Symptoms of a internal nerve injury

A

Loss of cough reflex (sensory and autonomic fibers are lost)

55
Q

Which nerves mediate the gag reflex?

A

CN IX (afferent) and CN X (efferent)

56
Q

Afferent and efferent nerves in carotid sinus reflex

A

IX (afferent) and X (efferent)

57
Q

Afferent and efferent fibers in Vestibulo-ocular reflex (eye movements with head movement)

A

VIII (afferent), III, IV, VI (efferent)

58
Q

Jaw jerk reflex nerves

A

V3 (afferent and efferent)

59
Q

Corneal reflex nerves

A

V1 (afferent) VII (efferent)

60
Q

Which nerve mediates salivation?

A

CN IX parasympathetic fibers (synapse in otic ganglion)

61
Q

What is the auriculotemporal nerve a branch of and what does it do?

A

CN IX, innervate parotid gland for salivation

62
Q

What is believed to cause the “on–off” phenomenon of drug responses in Parkinson’s Disease?

A

Progressive nigrostriatal neurodegeneration, making drug responses unpredictable

63
Q

How does M3 stimulation in vascular smooth muscle induce relaxation/dilation?

A

NO synthesis, which diffuses in to vascular smooth muscle and activates cGMP, which activates myosin light chain phosphatase

64
Q

M3 activation via ACh in all other target organs besides peripheral vasculature leads to

A

smooth muscle contraction (increase IC calcium)

65
Q

How does M2 stimulation on cardiomyocytes lead to decreased inotropy and chronotropy?

A

bind Gs, decrase cAMP and open K+ channels

66
Q

What is Cushing triad

A

hypertension, bradycardia, respiratory depression

67
Q

Where is the red nucleus located

A

midbrain tegmentum, pons

68
Q

Which lesion causes decerebrate (extensor) posturing

A

Damage at or below red nucleus (pons)

69
Q

Which lesion causes decorticate (flexor) posturing?

A

Neural structures above red nucleus (cerebral hemispheres, internal capsue) due to loss of inhibition of red nucleus and hyperactivity of limb fleexors

70
Q

What is the purpose of the Romberg test?

A

Proprioception test that distinguishes sensory from cerebellar ataxia.

71
Q

What does a positive Romberg sign (eyes closed) indicate?

A

Sensory ataxia (defects in posterior column or peripheral nerves)

72
Q

What are two common causes of posterior column degeneration?

A

Tabes dorsalis (syphillis) and B12 deficiency

73
Q

How is cerebellar function/motor coordination examined

A

rapid alternating movements, finger-to-nose, heel-to-shin

74
Q

How is the parietal association cortex tested

A

Draw a clock or bisect a horizontal line

75
Q

What is the common location of a cluster headache?

A

Behind one eye and around nostril

76
Q

How long does a cluster headache usually last

A

15-90 minutes

77
Q

Who is more prone to getting cluster headaches

A

males > females

78
Q

Nasal congestion and tearing are common associated symptoms for which type of headache

A

Cluster

79
Q

Auras, photophobia, nausea are associated with which headache

A

Migraine

80
Q

What is the location of migraines

A

Unilateral

81
Q

Pulsatile and throbbing pain is characteristic of which headache

A

Migraine

82
Q

Excruciating, sharp and constant pain is characteristic of which headache

A

Cluster

83
Q

Dull, tight and persistent pain is characteristic of which headache

A

Tension

84
Q

Females are more likely to get which type of headaches?

A

Migraine and tension

85
Q

Family history is associated with which headache?

A

Migraine

86
Q

Stress can lead to which bilateral headache?

A

Tension

87
Q

Phenylalanine hydroxylase is mutated in which condition?

A

PKU

88
Q

Presentation of PKU

A

Severe developmental and intellectual disabilities, seizures, abnormal pallor of chatecholaminergic brain nuclei (locus ceruleus, substantia nigra, vagal nucleus dorsalis)

89
Q

Which NTs cannot be made in PKU?

A

Tyrosine, Dopamine, NE/E

90
Q

What causes the musty odor in PKU?

A

Accumulation of abnormal phenylalanine metabolites

91
Q

What causes hypopigmentation of skin, hair, eyes and brain in PKU?

A

Phenylalanine inhibitory effect on melanin

92
Q

Presentation of dopamine hydroxylase deficiency

A

ptosis, orthostatic hypotension, hypoglycemia and hypothermia

93
Q

How does normal pressure hydrocephalus present?

A

Enlarged ventricles in setting of normal ICP

94
Q

What is hydrocephalus ex vacuo

A

Normal ICP and increased dilatation of ventricles secondary to cortical atrophy (elderly patients with dementia)

95
Q

What is pseudotumor cerebri

A

elevated ICP in young overweight women

96
Q

Which structures traverse the optic canal

A

Opthalmic artery, central retinal vein and CN II

97
Q

Which structures traverse the superior orbital fissure?

A

CN III, IV, V1, VI, opthalmic vein and sympathetic fibers

98
Q

Which structure traverses the foramen rotundum?

A

CN V2

99
Q

Which structure traverses through foramen ovale?

A

CN V3

100
Q

Which structures traverse through foramen spinosum?

A

middle meningeal artery and vein

101
Q

The Internal Acoustic meatus contains which CNs

A

CN VII VIII

102
Q

CN IX, X, XI, and jugular vein cross through which foramen?

A

Jugular foramen

103
Q

The hypoglossal canal carrie which nerve

A

CN XII

104
Q

The foramen magnum carry which nerves

A

CN XI, brainstem and vertebral arteries

105
Q

Where is the optimal site for a femoral nerve block?

A

Inguinal crease at lateral border of femoral artery

106
Q

List 4 UMN signs

A

Spastic paralysis, clasp-knife rigiditiy, hyperreflexia, Babinski sign

107
Q

4 signs of LMN

A

Flaccid paralysis, hypotonia, hyporeflexia, muscle atrophy and fasciculations (spasms)

108
Q

Pupillary light reflex pathway

A

1) CN II (optic nerve) receives input–> 2) Synapses onto 2* axon at Edinger-Westphal–> 3) Bilateral synapse onto pretectal nucleus (both eyes receive input)–> 4) Bilateral efferent output via CN III (pupillary constriction)

109
Q

Corneal reflex afferent and efferent

A

Afferent: CN V1; Efferent: CN VII

110
Q

Where are the lesions in conus medularis syndrome

A

L2

111
Q

Flaccid paralysis of bladder and rectum, impotence and saddle (S3-S5) anesthesia suggest

A

Conus Medullaris syndrome

112
Q

Low back pain radiating to one or both legs, saddle anesthesia, loss of anal sphincter reflex, bowel and bladder dysfunction and loss of ankle-jerk reflex with plantar flexion weakness suggest

A

Cauda equina syndrome

113
Q

Evagination of roof of developing mouth in buccopharyngeal membrane that gives rise to anterior pituitary; cysts and remnants cause craniopharyngiomas

A

Rathke pouch

114
Q

Why can glucose therapy without thiamine (such as in a homeless alcoholic) worsen Wernicke encephalopathy?

A

Thiamine is a cofactor needed for glucose metabolism. In thiamine deficiency, providing glucose exacerbates the deficiency worsening symptoms of confusion, disorientation, encephalopathy

115
Q

Tumors of this gland in the brain cause Parinaud syndrome (vertical gaze palsy, absent light reflex, impaired convergence)

A

Pineal gland (Pinealomas)

116
Q

Why do Pinealomas result in headache, nausea and vomiting?

A

Noncommunicative hydrocephalus (interrupts cerebral aqueduct)

117
Q

Which cancers stain positively for GFAP

A

Astrocytomas, ependymomas, oligodendrogliomas

118
Q

Which cancers stain positively for synaptophysin?

A

Neurons, neuroendocrine and neuroectodermal cells