Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

Neuromuscular Boards > Peripheral Neuropathies > Flashcards

Peripheral Neuropathies Flashcards

1
Q

Peripheral Myelin Protein 22 (PMP22)

A

Compact myelin

Duplicated in CMT1a and deleted in HNPP

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Myelin protein zero (MPZ) P0

A

Compact myelin

Adhesion melecule

Point mutation of P0 in CMT1B

some cases of CMT 2

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Connexin 32 (Cx32 or GJB1)

A

Uncompacted paranodal myelin

Gap juntion protein

CMT X

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

Transthyretin (TTR)

A

Familial amyloidosis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

IKBKAP

A

All cases of HSAN III with full penetrance

Important for carrier detection and egg selection

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

SMN 1

A

Commonly deleted in patients with SMA 1-3

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

Abdominal pain and neuroapthy

A

Porphyria, MNGIE, MEN2B

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Trinucleotide Repeat or Peripheral Nerve

A

Frataxin: GAA (FA)

Polyglutamine diseases (CAG)

  • Androgen receptor (Kennedy’s Disease)
  • Ataxin (SCA 1,2,3)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

INHERITED NEUROPATHIES

A
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

A 47 year old with N/V and epigasgtric pain. Two days later he develops a rapidly ascending weakness and sensory loss. After 2 weeks he develops substantial hair loss. Exposure to which agent is most likely.

A. Lead

B. Organophosphate

C. Thalium

D. Gold

E. Organic Mercury

A

Thallium exposure is associated with GI dysfunction and peripheral neuropathy. Severe cases may be associated with central nervous system dysfunction with ataxia, encephalopathy or coma. A distal axonal peripheral neuropathy develops 24-48 hours after exposure, follwed by allopecia 2-4 weeks after acute exposure.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

ORANGE TONSILS

A

TANGIER’S DISEASE

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

ANGIOKERATOMA

A

FABRY’S DISEASE

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

RETINITIS PIGMENTOSA

A

HMSN VII

SCA 7

MITOCHONDRIAL DISEASE

REFSUM’S DISEASE

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

HYPERTROPHIC NERVES

A

HMSN 1

REFSUM’S DISEDASE

DEJERINE-SOTTAS DISEASE (HMSN III)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

HYPERTELORISM, SHORT STATURE

A

HERIDITARY BRACHIAL PLEXOPATHY

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

ABSENSE OF FUNGIFORM TONGUE PAPILLAE

A

HSAN IV

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

TONGUE NODULES

A

MEN 2B

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

TIGHTLY CURLED HAIR

A

GIANT AXONAL NEUROPATHY

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

GYNACOMASTIA

A

KENNEDY’S DISEASE

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

EXTENSOR PLANTAR’S AND ABSENT ANKLE REFLEXES

A

FRIEDREICH’S ATAXIA

VITAMIN B12 DEFICIENCY

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

CARDIOMYOPATHY

A

AMYLOIDOSIS

FRIEDRICH’S ATAXIA

FABRY’S DISEASE

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

LOW HDL CHOLESTEROL

A

TANGIER DISEASE

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

ELEVATED SERUM PHYTANIC ACID

A

REFSUM’S DISEASE

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

DISPROPORTIONATE PROLONGATION OF DISTAL MOTOR LATENCIES

A

HNPP

ANTI-MAG-RELATED NEUROPATHY

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

ONION BULBS

A

HMSN I

REFSUM’S DISEASE

DEJERINE-SOTTAS DISEASE

CIDP

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

TOMACULAE

A

HNPP

LESS PROMINANT IN HMSN 1 AND CIDP

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
27
Q

GIANT AXONS WITH DENSE CYTOPLASM

A

GIANT AXONAL NEUROPATHY

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
28
Q

BROWN GRANULES IN SCHWANN CELL CYTOPLASM

A

METACHROMATIC LEUKODYSTROPHY

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
29
Q

APPLE-GREEN BIREFRINGENCE

A

TTR

GELSOLIN OR A-I FAMILIAL AMYLOIDOSIS

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
30
Q

MOST COMMON PATTERN OF INHERITANCE IS AUTOSOMAL DOMINANT

EXCEPT:

A

X-LINKED

  • HMSN X
  • FABRY’S DISEASE
  • KENNEDY’S

AUTOSOMAL RECESSIVE

  • MOST OF THE METABOLIC DISORDERS
  • HMSN IV
  • HSAN II-V
  • FRIEDREICH’S ATAXIA
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
31
Q

47 year old male experiences

A
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
32
Q

A teased fiber preparation is most useful for demonstrating diagnostic findings in which of the following.

A. HNPP

B. DM Neuropathy

C. Neurofibromatosis

D. Peripheral nerve vaculitis

E. VIncristine neuropathy.

A

Teased fiver allows for evaluation of consecutive internodes or segments of the same myelinated nerve fiber over long distances. Peripheral nerve tomacula (latin = sausage) representing myelin redupilications are demonstrated in teased fiber preparations in HNPP. Myelin reduplication does not take place int eh other disorders listed.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
33
Q

A 75 YOF develops slowly progressive lower extremity spasticity. NCS demonstrate an axonal sensorimotor polyneuropathy. Her physician suspects zinc toxicity from excessive denture cream ingestion. Which lab fidning would support this diagnosis?

A. Pancytompenia.

B. Elevated ceruloplasm

C. Increased urinary copper

D. Low serum mag

E. Elevated methylmalonic acid

A

Excessive zinc ingestion can lead to impaired absorption of copper. Copper deficiency leads to degeneration of the poterios and lateral columns and can be associated with hematologic manifestionations including anema and leukopenia. Serum and urine copper levels would be decrased as weould ceruloplasm.

Elevatged methylmalonic acid levels would suggest vitamin B12 deficiency as an alternate for superimposed cause of her myeloneruopathy.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
34
Q

A male with DM develops a one year history of progressive numbness in the legs and decreased balance. Evaluation shows normal labs. EDX shows slowing of nerve conduction elcoities in the arms and legs with condcution block of the median and fibular motor nerves between the distal and proximal stimulations sites. Sensory potentials are absent. Needle shows decreased recruitment. Which of the following is the best treatment choice.

A. Oral CS

B. IV cyclophosphamide

C. Oral cyclopsorine

D. IV IG

E. Oral pregabalin

A

CIDP - IVIG drug of choice in setting of DM. Oral and IV cyclosporine and cyclophosphamide are used in refractory cases and have more serious side effect profiles.

35
Q

The most common neuropathy in DM is:

A. Distal symmetric sensorimotor neuropathy.

B. Ulnar neuropathy at the elbow

C. Lumbosacral radiculoplexus neuropathy

D. Thoracoabdominal neuropathy

E. Cranial neuropathy

A

A. Affects 50% of patients with DM mkore than 20 years.

Median neuropathy at the wrist affects 30%

Autonomic and cranial neuropathies are found in 1%.

36
Q

Mitochondrial neurogastrointestinal encephalopathy

A

MNGIE, also called myopathy, neuropathy, hastrointestinal encephalopathy

37
Q

Which of the following agents may cause an acquired demyelinating polyneuropathy.

A. Chloroquine

B. Simvastatin

C. Thalidomide

D. Etanercept

D. Colchicine

A

D. All commercially available tumor necrosis factor antagonists (adalimumab, etanercept and infliximab) have been associated with chronic inflammatory demyelinating polyneuropathy0-like illness. Tacrolimus may induce a similar immune-mediated disorder.

38
Q

Chronic use of which of the follwing agents is most likely to cause both a peripheral neuropathy and a myopathy?

A. Cisplastin

B. Vincristine

C. Amiodarone

D. Lithium

E. Arsenic

A

C. Neuromyelopthy my accur after 2-3 year of use. The remaining drugs are associated with a peripheral polyneuropathy but not myelopathy.

39
Q
A
40
Q

Treatment of Fabry’s disease

A

Fabry’s disease: enzyme replacment

41
Q

Treatment of Transthyretin amyloidosis

A

Liver transplantation

42
Q

Refsum’s disease

A

phytanic acid-free diet

43
Q

Kennedy’s Disease

A

Possible role for antiandrogen therapy

44
Q
A
45
Q

HMSN II Subtypes

A

Heterozygous and less defined than I

At least six identified (a-f)

IIa- MFN2 and KIF1B

IIb - RAB-7, similar to HSAN 1

IId: GARS: may present as a motor neruonopathy

HMSN IIe: NFL

46
Q

MFN2

A

Most common subtype in CMT 2,

Nuclear gene that encoudes for mitochonidral protein mitofusin 2

Mitofusin is imp in movement of mitochondria along microtubule by fusion, deprives the distal axon of an energy source

47
Q

Features of CMT 2

A

Presents later in life

less upper limb weakness

IIb- severe sensory loss

IIc- diaphragm and vocal cord paresis

IId - upper limb envolvment early in the disease

48
Q

HMSN III (Dejerine-Sottas disease)

A

Infantile onset of severe demyelinating neuropathy

Genetially heterogeneous PMP22, MPZ and EGR2

49
Q

HMSN III (Dejerine-Sottas disease): Clinical features and EDX findings

A

Markedly reduced conduction velocities less than 10 m/s

Delayed motor milestones

wheelchair bound by early adulthood

palpable nerve hypertrophy

Prominant onion bulbs on nerve bx

*marked protein elevation (unlike other inherited neuropathies)

50
Q

HMSN IV

A

Autosomal recessive

Rare

Previously referred to as Refsum’s disease

Severely early -onset demyelinating

51
Q

HMSN IVa

A

mutation of GDAP1 gene of unown function) causes basal lamina onion bulbs without intervening layers of schwann cell cytoplasm

52
Q

HMSN X

A

Rare - X-linked reessive

GJB1 (gap junction beta) gene encoding Cx32 which is a s Schwann cell transmembrane gap junction protein located in uncompacted myelin (in contrast to MPZ and PMP22) at the paranodal regions.

53
Q

HMSN X

A

Resembles CMT1

with onset in adolescence, early proprio loss and sensory ataxia

Central hearing loss

Transient encephalopathy with exercie at altidue (>8000ft)

symmetric nonenhancing white matter abn

54
Q
A
55
Q

HMSN X: EDX

A

Mixed axonal and demyelinating with conduction velocities intermediate bw CMT 1 and CMT2

Upper limb CV around 30-38m/s

56
Q

Rare forms of HMSN

A

HMSN - V: AD; assoc with spastic paraplegia

HMSN VI: AR associated with optic atrophy

HMSN VII: associated with ratinitis pigmentosia

Giant cell neuropathy

57
Q

Giant cell neuropathy

A

Giant cell neuropathy: Rare, AR, mutation of the GAN gene on chromosome 16q24. encodes gigatoxin (PNS and CNS)

patients walk on inner edges of feet

spinocerebellar degeneration

tightly curled hair

death by the end of the third decade

58
Q

Giant cell neuropathy Nerve biopsy

A

giant axonal swellings

dense cytoplasm

59
Q

HNPP

A

AD

Deletion of portion of chromosome 17 containing PMP22

20% of cases do not have a macrodeletion therefore sequencing of pmp22 may show point mutations

Generalized multifocal demyelinating periopheral neuropathy

focal condcution slowing of black at common sites of compression

tomoculae

60
Q

Hereditary Brachial Plexopathy: background

A

AD

Chromosome 17, gene not identified

Ocular hypotelorism (close set yes)

prominant epicanthal folds

Short stature

61
Q

Hereditary brachial plexopathy: Clinical

A

preferential effects C5-C6

Patchy involvement of the plxus

62
Q

HSAN 1

A

only AD form of HSAN

only adult form of HSAN

Slowly progressive Restricted to lower limbs

63
Q

HSAN I: Genetics

A

SPTLC - chromosome 9q22 synthasizes sphingomyelin via enzyme palmitoyltransferease found in neurilemma (Long chain base 1) (LCB1)

and RAB7

  • slow progression but restricted to lower limbs
  • loss of sweat response
64
Q

HSAN II: background

A

Onset early in life

severe panmodality senosry loss affecting upper and lower limbs, trunk and face

Mutilating acropathy

65
Q

HSAN II: genetics

A

AR

mutation of one gene at chromosome 12q13.33

66
Q

HSAN III: background

A

also called familial dysautonomia or Riley-Day syndrome

Presents at birth with widespread autonomic failure

Alacrima (absense of tears)

Dry respiratory secretions with frequent infections

GI dysmotility

autonomic dysregulation: tachycardia, HTN, sweating

**absense of tongue fungiform papillae

Pain sensation is preserved early - lost later in life

Poor prognosis : death in infancy and childhood

67
Q

HSAN III: genetics

A

AR

Jews

IKBKAP (kinase complex associated protein)

68
Q

HSAN IV:Genetics

A

AR

Mutation in the TRKA protein tyrosine receptor kinase A (TrKA)

insensitivity to pain with anhidrosis

hypertheramia

mild mental retardation

Normal SNAPs

69
Q

HSAN V

A

similar to IV but different apthology

loss of small myelinated fibers mild decrease in unmyelinated fibers

Mutations in TRKA, NGFB

*Normal SNAPs

70
Q

Demyelinating neuropathy with CNS disease

A

Metachromatic leukodystrophy

Krabbe’s disease

Adrenomyeloneuropathy

Refsum’s disease

71
Q
A
72
Q

Small Fiber sensory neuropathy

A

Fabry’s disease

Tangier disease

73
Q
A
74
Q

lysosomal enzymes

A

Metachromatic leukodystrophy

krabbe’s disedase

75
Q

Metachromatic leukodystrophy

A

Inheritance: AR

Metabolic abn: arylsulfatase A deficency

lysosomal enzyme

Can meaures enzyme activity by skin fibroblast or leukocytes

76
Q

Peroxisomal enzyems

A

Adrenokeukodystrophy and adrenomyeloneuropathy

fabry’s disease

refsum’s disease

77
Q

lipoproten deficiency

A

Tangier disease

78
Q

MCLD

A

childhood or adult onset

PNS and CNS involvement

spasticity, mental retardation, optic atrophy, MRI: white matter plaques and atrophy

EDX: demyelinating feateures

Path: metachromatic granules

Tx: bone marrow transplant

79
Q

Globoid Cell leukodystrophy

A

AR

galactosylceramidase (lysosomal enzyme)

Clinical: PNS and CNS (similar to MCLD)

EDX: demyelinating

path: globoid cells

giant multinucleated epitheloid cells in brain and white matter

Bone marrow transplant if early in disease

80
Q
A
81
Q

Adrenomyelonneuropathy

A

X-linked recessive

Allelic with adrenoleukodystrophy

mutation on the ABCD1 on chromosome Xq28

ADLP - ATP-binding cassete (ABC) transport protein

transports VLCFA into peroxisome

deficiency causes accumulation of VLCFA

MIlder spastic paraplegia in third and fouthe decades, usually adult men with mild adrenal insufficiency

82
Q

Refsum: previously classifed as HMSN IV

A

AR

phytanoyl-CoA hydroxylase - oxidizes phytanic acid

inital sympotms: night blindness

palp nerve hypertrophy

CNS involvement: ataxia, anosmia and deafness

*short fourth metatarsal

high CSF protein

elevated serum phytanic acid

TX: restriction of phytanic acid

83
Q

Fabry’s disease

A

X-linked recessive

deficient of alpha galactasidase

results in accumulation of ceremide trihexoside in PNS in kidney and heart and PNS

enzyme replacement treatment early

84
Q

tangier disease

A

AR

ABCA encoding ABCA 1 protein

defect lipid transport low HDL

Neuromuscular Boards (8 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions