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Eugenie Notes > Notes 2b > Flashcards

Notes 2b Flashcards

1
Q

Ataxia-telangiectasia

inheritance

mutation

features

lab thats high

A

AR

ATM gene on chromosome 11 → impaired DNA repair

  • neuropathy, ataxia, and extraocular movement abnormalities (cannot move eyes without head thrusting)
  • Telangiectasis in conjunctiva and other places

high serum alpha fetal protein

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2
Q

Spinocerebellar ataxia

inheritance

mutation

features

A

AD
CAG expansion on ataxin gene in chromosome 14

theres several types, like over 20. all have progressive truncal and limb ataxia, often associated with spasticity and other UMN findings

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3
Q

Most common type of spinocerebellar ataxia

A

SCA 3 (Machado-Joseph Disease)

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4
Q

Which SCA type is associated with retinopathy and vision loss

A

SCA 7

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5
Q

Cerebrotendinous xanthomatosis

inheritance

mutation

features

lab thats high

A

AR

defect in enzyme 27-sterol hydroxylase on chromosome 2

results in cholesterol deposits into various tissues, including the brain: neuropsych issues, ataxia, parkinsonism, neuropathy, tendon xanthomas especially in the Achilles tendon.

serum cholestanol is high

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6
Q

Orthostatic tremor: features

A

affects trunk and thighs, unsteadiness when standing with improvement when given physical support or with ambulation

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7
Q

Fahr’s Disease

features

A
  • striopallidodentate calcinosis, benign hereditary calcification of the basal ganglia)
  • CT finding of calcification most commonly in the caudate, putamen, thalamus and cerebellum
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8
Q

Profound hyperglycemia can cause what signs on MRI

A

T1 hyperintensity in the striatum

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9
Q

Most common gene mutation in hereditary Parkinson’s disease

A

LRRK 2

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10
Q

BUZZWORDS: Tongue protrusion dystonia, chorea, acanthocytes on wet most peripheral smear

A

Neuroacanthocytosis

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11
Q

BUZZWORDS: Huntington’s Dz- inheritance, chromosome abnormality

A

AD
CAG repeat chromosome 4

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12
Q

BUZZWORDS: primary generalized dystonia mutation?

A

Torsin A on chromosome 9

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13
Q

BUZZWORDS: filipino with generalized dystonia and parkinsonism

A

DYT3 Dystonia or Lubag’s Disease

X-linked dystonia and parkinsonism

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14
Q

BUZZWORDS: Dystonia in a young girl with diurnal variation

A

dopa responsive dystonia

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15
Q

BUZZWORDS: mutation in dopa-responsive dystonia

A

GTP cyclohydrolase (GCH1) on chromosome 14

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16
Q

BUZZWORDS: episodic ataxia with facial twitching

dx

gene

triggers

tx

A

Episodic ataxia type 1

KCN1A

exercise, startle

ASMs like CBZ

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17
Q

BUZZWORDS: episodic ataxia with nystagmus and dysarthria

dx

gene

triggers

tx

A

episodic ataxia type 2

CACN1A4

alcohol, fatigue, stress

acetazolamide

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18
Q

BUZZWORDS: NT implicated in familial hyperekplekia (exaggerated startle syndrome)

A

glycine

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19
Q

BUZZWORDS: ataxia with high serum AFP

A

Ataxia telangiectasia

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20
Q

BUZZWORDS: ataxia, parkinsonism in the grandfather of a patient with Fragile X syndrome

Whats the mutation?

A

FXTAS (fragile x tremor ataxia syndrome)

CGG repeat in FMR1 gene on X chromosome.

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21
Q

Imaging findings in FXTAS?

A

T2 hyperintensities in cerebellum and inferior cerebellar peduncle

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22
Q

BUZZWORDS: eye of the tiger sign on MRI

A

hyperintensity surrounded by hypointensity in BG, seen in PKAN (panthothenate-kinase-associated neurodegeneration)

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23
Q

BUZZWORDS: halo sign on MRI

A

hyperintense lesion on T1 in cerebral peduncles, seen in

BPAN (beta-propeller protein associated neurodegeneration

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24
Q

demyelinating plaques in MS consist mostly of

A

macrophages (in the core of the plaques) and glial cells

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25
Q

What are shadow plaques in MS

A

areas of remyelination where oligodendroglial cells are reduced in the plaque core and increased at the periphery

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26
Q

Black holes in MS are

A

lesions with reduced T1 signal: older plaques with significant axonal loss

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27
Q

Tumefactive MS sign on MRI

Tx

A

open ring sign (incomplete peripheral enhancement) with limited mass effect

PLEX/IVIG

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28
Q

ADEM (acute disseminated encephalomyelitis)

features

MRI

Tx

A

different entity from MS, presents with encephalopathy after an infection of vaccine.

MRI with multifocal large lesions than can involve the BG

IV steroids

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29
Q

Balo’s concentric sclerosis

features

MRI

A

subset of MS: progressive demyelinating disorder in which concentric rings are seen on MRI

MRI with rounded lesions with alternating layers of high and low signal intensity

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30
Q

MOA of dimethyl fumarate (tecfidera)

A

anti-oxidant effect of NF2, unclear MOA

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31
Q

MOA of teriflunomide (aubagio)

okay in pregnancy?

A

inhibits dihydro-orate dehydrogenase (DHO-DH) involved in pyrimidine synthesis for SNA synthesis

TERATOGENIC

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32
Q

glatiramer is assoc with what SE?

okay in pregnancy?

A

lipoatrophy

safest in pregnancy

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33
Q

MOA of cladribine? (Mavenclad)

A

purine analog, B and T cell inhibitor

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34
Q

MOA of evobrutinib

A

Bruton-tyrosine kinase inhibitor, acts on B cells and macrophages

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35
Q

MOA of Natalizumab (Tysabri)

Side effect

A

Ab against alpha-4-integrin (cellular adhesion molecule). Binds to lymphocytes and prevents adherence at the endothelial surface of blood vessels.

1 in 1000 risk of PML

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36
Q

If patient on natalizumab (tysabri) begins to develop PML, what should you do?

A

stop tx and start PLEX

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37
Q

Mitoxantrone is assoc with

A

tx related leukemia and dose dependent cardiomyopathy

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38
Q

MOA of fingolimod (gilenya)

SE?

A

sphingosine-1-phosphate (causing uncoupling and internalization of this receptor)

bradycardia, macular degeneration, inc risk of VZV

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39
Q

MOA of alemuzimab (lemtrada)

SE?

A

selectively binds to CD52 on B and T cells, macrophages, and NK cells

hyperthyroidism and ITP

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40
Q

Dalfampridine MOA?

is used for?

SE

A

inhibitor of voltage sensitive potassium channels

helps with walking in MS patients

lowers sz threshold, insomnia, pain, nephrotoxic

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41
Q

Transverse myelitis

What is it

Caused by

A

term used for patients with subacute myelopathy which appears to have an immunologic bases

NMO, MS, viral illness, mycoplasma infection, vaccines, lupus, sarcoid

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42
Q

Uhthoff’s Phenomenon

A

transient worsening of a demyelinating disorder with heat of exercise

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43
Q

Lhermitte’s sign

A

electric shock like sensation down the body with neck flexion: suggest dural or meningeal irritation seen in transverse myelitis

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44
Q

Pulfrich’s sign

A

visual phenomenon in which patient has trouble following objects: 2D objects are perceived as moving 3 dimensionally

assoc with INO or demyelinating optic neuritis

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45
Q

MRI findings in astrocytomas?

A

T2 intense lesions without enhancement with gad

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46
Q

Pleomorphic xanthoastrocytoma: location and presentation

A

temporal lobe and presents with seizure

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47
Q

Treatment for leptomeningeal carcinomatosis

A

full body radiation and IV methotrexate

48
Q

Batson’s plexus

A

network of valveless veins that connect pelvic veins with internal vertebral veins

main way that prostrate cancer can spread to the meninges

49
Q

Neuroblastoma

presents with

tx

A

opsoclonus myoclonus syndrome, irregular high amplitude eye movements that occur in any direction, myoclonic jerks and ataxia

ACTH and resection

50
Q

Opsoclonus myoclonus syndrome can also be seen in?

A

adults with Anti-Ri Ab (aka ANNA-2 Ab) which is associated with breast cancer as well as small cell lung cancer

51
Q

most common primary brain tumor

A

glioma

52
Q

Grade 1 gliomas are assoc with what mutation that improves prognosis

A

IDH1

53
Q

Grade 3 (anaplastic) gliomas are assoc with what mutation

A

p53

54
Q

Typical brain tumor that crosses the corpus callosum

A

GBM

butterfly lesion

55
Q

GBM:

path

tx

prog

A

perinecrotic pseudopallsading nuclei

temozolamide, resection, radiotherapy

15 mo or less

56
Q

Oligodendoglioma

path

deletion with better prog

A

“fried egg” and “chicken wire” appearance of capillaries

1p19q deletion has better prog

57
Q

Ependymoma

path

what is assoc with worse prog

A

perivascular pseudorosette (in which the cells surround the blood vessels)

drop metastases (when brain tumors met to the spine)

58
Q

Medulloblastoma

path

poor prognostic markers?

most common genetic defect

Findings on MRS

A

Homer Wright rosettes

onset <3yo, N-mc transcription factor amplification

most common genetic defect on chromosome 17

high choline peak, high taurine peak, low N-acteylaspartate

59
Q

Pilocytic astrocytoma

path

associated with

A

Rosenthal fibers

NF-1

60
Q

Meningioma

path

sign on MRI

assoc with (3)

A

monomorphic cells with psamomma bodies

dural tail on MRI, isointense to grey matter on T1/T2 with homogenous enhancement

assoc with NF-2, previous radiation and breast cancer

61
Q

Pleomorphic xanthoastrocytoma (PXA)

path

location

MRI

prognosis

A

can see rosenthal fibers

well demarcated tumor usually in temporal lobe

enhancing moral nodule on MRI

good prog can be resected

62
Q

Subependymal Giant cell Astrocytoma (SEGA)

location

assoc with

A

Seen in 3rd or lateral ventricles

assoc with TSC

63
Q

Most common primary cerebellar tumor in adults

A

hemangioblastoma (benign vascular tumors)

64
Q

Hemangioblastoma

MRI

secretes?

assoc with

A

demarcated and cystic cyst with an enhancing mural nodule

erythropoetin-like substance is secreted, causes secondary polycythemia

Von Hippel-Lindau mutation on chromosome 3

65
Q

Ganglioglioma

location

MRI

path

markers

A

temporal lobe, presents with seizures

cyst with enhancing mural nodule

eosinophilic granular bodies

GFAP+ and synoptophysin +

66
Q

Neurocytoma

location

marker

A

lateral or 3rd ventricle

synoptophysin +, GFAP (-)

67
Q

Dysembryoplastic neuroepithelial tumor (DNET)

path

location

MRI

A

“floating neurons” which are mucinous cysts around neurons

temporal lobe

nodular or cystic lesion that is hyperintense on T2 and does not enhance

68
Q

CNS Lymphoma

path

patient pop

assoc with

MRI

prog

tx

A

hyperplastic cells around vessels

immunocompromised

EBV

T2 hyperintensity, edema and contrast enhancement

poor prog

steroid responsive, (avoid before bx)

69
Q

Craniopharyngioma

originates from

MRI

path

A

remnants of Rathke’s pouch in the sellar region

cystic tumor that causes mass effect on the optic chiasm, pituitary, ventricular system, that area

mix of solid and cystic componenets on path

70
Q

Choroid plexus papilloma: population and location

A

childhood, lateral ventricle and resectable.

71
Q

Chordoma

what is it

arises from

presents with what based on loc

A

invasive osseodesctructive tumor

remnant of primitive notochord

  • If in the clivus: headache, neck pain, multiple CN neuropathies (due to brainstem compression)
  • If in sacral area: sphincter dysfunction and pain
72
Q

Vestibular schwannoma

common loc

presents with

MRI

path

marker

A

cerebellopontine angle tumor from CN8: can compress the brainstem/internal auditory meatus

hearing loss, tinnitus, cerebellar findings

isointense tumors with contrast enhancement

Verocay body: cells and nuclei tend to be elongated, sometimes in pallisade configuration

73
Q

Most common CNS tumors in children (3)

A
  1. pilocytic astrocytoma
  2. medulloblastoma
  3. ependymoma
74
Q

Most metastatic CNS tumors are supra or infratentorial

A

supra

75
Q

Most common source of mets to brain?

A
  1. lung
  2. breast
  3. melanoma
  4. colon
  5. kidneys
76
Q

Colon and pelvis cancers, if they do metastasize tend to go where?

A

posterior fossa

77
Q

MRI findings that indicate mets

A

round, well demarcated, located in grey-white junction and hyperintense on T2 with significant gad enhancement and vasogenic edema

78
Q

Paraneoplastic cerebellar degeneration

assoc with what cancers

Ab assoc (3)?

A

ovarian and breast

Anti-Yo Ab (antibody to Purkinje cells) assoc with ovarian cancer
Anti-Hu assoc with small cell lung cancer
Anti-Tr9 assoc with lymphoma

79
Q

Limbic encephalitis

assoc with what Abs

A

Anti-Hu (small cell lung ca)

Anti-Ma (testicular germ cell tumors)

Anti-VGKC (voltage gated K channels)

80
Q

Dermatomyositis assoc with what cancers?

A

ovarian, lung, colorectal and pancreatic

81
Q

Polymyositis is assoc with what cancers

A

Non-Hodgkin lymphoma, lung, bladder cancer

82
Q

Ab assoc with poly/dermatomyositis

A

Anti-Jo

83
Q

Antibody assoc with paraneoplastic optic neuropathy

A

anti-CRMP5 (lung cancer)

84
Q

Antibody assoc with paraneoplastic retinal degeneration?

A

anti-recoverin Ab (small cell lung cancer, thymoma)

85
Q

Antibody assoc with paraneoplastic subacute sensory neuropathy?

A

anti-Yo (ovarian cancer)

86
Q

Antibody assoc with paraneoplastic LEMS?

A

anti-voltage gated Ca channels of P/Q type

87
Q

Antibody assoc with paraneoplastic chorea?

A

anti-Hu and anti-CRMP5 Ab (lung cancer)

88
Q

colloid cysts commonly arise in?

A

foramen of monro

89
Q

Colloid cysts on MRI

A

inc T1 signal with no enhancement

90
Q

How to differentiate epidermoid cysts from arachnoid cysts on MR

A

epidermoid cysts have restricted diffusion on DWI

91
Q

BUZZWORDS: marker of nuclear proliferation

A

Ki-67

92
Q

BUZZWORDS: marker for T cells

A

CD3

93
Q

BUZZWORDS: marker for B cells

A

CD20

94
Q

BUZZWORDS: chromosome 1p and 19q deletion is good prog for?

A

oligodendoglioma

95
Q

BUZZWORDS: SEGAs are assoc with

A

Tuberous sclerosis

96
Q

BUZZWORDS: Ab assoc with small cell lung ca, paraneoplastic sensory neuropathy,

A

Anti-Hu (ANNA-1)

97
Q

BUZZWORDS: Ab assoc with opsoclonus myoclonus, breast cancer and ovarian cancer

A

Anti-Ri (ANNA-2)

98
Q

BUZZWORDS: opsoclonus myoclonus in children

A

Neuroblastoma

99
Q

Paraneoplastic encephalitis assoc with ovarian teratoma?

A

anti-NMDA

100
Q

BUZZWORDS: stiff person syndrome: paraneoplastic Ab vs nonparaneoplastic?

A

para: anti-amphiphysin
nonpara: Anti-GAD

101
Q

Giant axonal neuropathy

inheritance

mutation

features

pathognomonic pathology

prog

A

AR

mutation in GAN gene (gigaxonin)

sensorimotor polyneuropathy, UMN, optic atrophy, tightly curled hair, characteristic gait walking on inner edges of feet

large focal axonal swelling that contain tightly packed disorganized neurofilaments.

poor- die by adolesence

102
Q

Refsum Disease

inheritance

mutation

features

tx

A

AD
defect in fatty acid metabolism leading to accumulation of phytanic acid

retinitis pigments, cardiomyopathy, neuropathy (large fiber sensorimotor), hearing loss, anosmia, cerebellar signs

diet low in phytanic acid

103
Q

EMG evidence of axonal loss

A

reduction in action potential amplitude, tend to have preserved or mildly reduced conduction velocities.

104
Q

Sensory NCS measures?

A

SNAP amplitude

sensory latency

conduction velocity

105
Q

what is the SNAP

A

measure of the number of axons conduction between the stim site and the recording site.

106
Q

what is sensory latency

A

time it takes for the action potential to travel between the stim site and the recording site of the nerve

107
Q

conduction velocity

A

obtained by dividing the distance between the stim site and the recording site by the latency

108
Q

Motor NCS measures?

A

CMAP

motor latency

conduction velocity

109
Q

CMAP is a measure of

A

the status of neuromuscular junction and muscle fibers

110
Q

what findings correlate with axon loss vs demyelination

A

decreased amplitudes = axon

prolonged latency/slow velocity = demyelinating

111
Q

chronic alcoholism leads to what findings in the brain

A

atrophy of the cerebellar vermis and truncal ataxia

112
Q

LGI1 encephalitis

A

cell surface protein associated antibody syndrome characterized by faciobrachial dystonic seizures

Encephalitis + seizures ^ and behavioral/memory changes.

Does not respond to ASMs but does respond to immune therapy.

113
Q

diffuse astrocytomas can be divided into?

A

fibrillary, gemistocytic, protoplasmic, small cell, giant cell, epithelioid, granular cell, glioblastoma with oligodendroglioma component

114
Q

astrocytoma
anaplastic astrocytoma
glioblastoma

WHO grades?

A

2
3
4

115
Q

SEGA: WHO grade?

A

1

Eugenie Notes (10 decks)

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