[MCQ] Peripheral Neuropathy - Part 3

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Peripheral Neuropathy - Part 3

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Question 1

Gap junctions consist of membrane-spanning proteins called ?

A	Spannins
B	Membranins
C	Connexins
D	All of the above

Question 1 Explanation:

Connexins are gap junction structural proteins that are important in cell-to-cell communication. Gap junctions provide direct neuron-neuron electrical conduction and also create openings for the diffusion of ions and metabolites between cells. Gap junctions membrane-spanning proteins, expressed by Schwann cells are connexins, that pair across adjacent cells.

Question 2

Mutation of which gene of gap junction protein is responsible for X-linked Charcot-Marie-Tooth disease ?

A	Connexin 26
B	Connexin 32
C	Connexin 42
D	Connexin 48

Question 2 Explanation:

Mutations in connexin 32 are responsible for X-linked form of CMT disease (CMT1X). Mutated gene is GJB1.

Question 3

Which of the following about HNPP is false ?

A	Affected individuals have only one copy of PMP-22 gene
B	Weakness in distribution of single peripheral nerves
C	Symptoms precipitated by trivial compression of nerve
D	None of the above

Question 3 Explanation:

Hereditary Neuropathy with Liability to Pressure Palsies (HNPP) is an autosomal dominant disorder. CMT1A is associated with duplication in chromosome 17p11.2 resulting in an extra copy of PMP- 22 gene, whereas in HNPP, affected individuals have only one copy of the PMP-22 gene.

Question 4

Most commonly involved nerve in HNPP is ?

A	Peroneal
B	Ulnar
C	Radial
D	Median

Question 4 Explanation:

HNPP presents as recurrent focal entrapment neuropathy (numbness & weakness) most frequently in peroneal then ulnar, radial & median nerves.

Question 5

Hereditary Neuralgic Amyotrophy (HNA) is caused by mutations in ?

A	Septin 9 (SEPT9)
B	ATP-binding cassette transporter 1 (ABC1) gene
C	Mitofusin 2 (MFN2) gene
D	Transthyretin (TTR) gene

Question 5 Explanation:

HNA is caused by mutations in septin 9 (SEPT9). Septins may be important in formation of the neuronal cytoskeleton and have a role in cell division

Question 6

Which of the following is best related to Hereditary Neuralgic Amyotrophy (HNA) ?

A	Lumbosacral plexus
B	Brachial plexus
C	Charcot joints
D	Deep dermal ulcerations

Question 6 Explanation:

HNA is an autosomal dominant disorder characterized by recurrent attacks of pain, weakness, and sensory loss in the distribution of brachial plexus

Question 7

Apart from demyelinating CMT, what else characterizes Roussy- LéVy syndrome ?

A	Action tremor
B	Deafness
C	Blindness
D	Spina bifida

Question 7 Explanation:

Roussy-LéVy syndrome is a combination of demyelinating CMT with postural and action tremor

Question 8

Riley-Day syndrome is also called ?

A	HSAN 1
B	HSAN 2
C	HSAN 3
D	HSAN 4

Question 8 Explanation:

Hereditary sensory neuropathies (HSN) are also called hereditary sensory & autonomic neuropathies (HSANs). Out of five subtypes, HSAN 1 is most common. HSAN 3 is also called Riley-Day syndrome

Question 9

Hereditary Sensory and Autonomic Neuropathy1A (HSAN1A) is caused by mutations in ?

A	Septin 9 (SEPT9)
B	Serine palmitoyltransferase long-chain base 1 (SPTLC1)
C	Mitofusin 2 (MFN2)
D	Transthyretin (TTR)

Question 9 Explanation:

HSAN1A is caused by mutations in serine palmitoyltransferase long-chain base 1 (SPTLC1) gene

Question 10

Which of the following is a feature of HSAN1 ?

A	Deep dermal ulcerations
B	Recurrent osteomyelitis
C	Gross foot and hand deformities
D	All of the above

Question 10 Explanation:

HSAN1 is associated with degeneration of small myelinated & unmyelinated nerve fibers leading to severe loss of pain & temperature sensation, deep dermal ulcerations, recurrent osteomyelitis, Charcot joints, bone loss, gross foot and hand deformities, and amputated digits.

Question 11

Which of the following about Fabry Disease is false ?

A	X-linked dominant disorder
B	Reddish-purple maculopapular lesions
C	Premature atherosclerosis
D	None of the above

Question 12

Fabry disease is caused by mutations in ?

A	Alpha-galactosidase gene
B	ATP-binding cassette transporter 1 (ABC1) gene
C	Mitofusin 2 (MFN2) gene
D	Transthyretin (TTR) gene

Question 12 Explanation:

Fabry disease is caused by mutations in alpha-galactosidase gene that leads to accumulation of ceramide trihexoside in nerves and blood vessels

Question 13

Manifestations of Fabry disease include all except ?

A	Angiokeratomas (telangiectatic skin lesions)
B	Hyperhidrosis
C	Corneal and lenticular opacities
D	Acroparesthesia

Question 13 Explanation:

Fabry’s disease manifests with angiokeratomas (telangiectatic skin lesions), hypohidrosis, corneal and lenticular opacities, acroparesthesia and small-vessel disease of kidney, heart, and brain.

Question 14

Angiokeratomas in Fabry’s disease are best seen in ?

A	Between umbilicus and knees
B	Nape of the neck
C	FIngers of hand
D	Nose

Question 14 Explanation:

Angiokeratomas in Fabry’s disease are punctate, dark red to blue-black, flat or slightly raised, and usually symmetric. They do not blanch with pressure. They are most dense between umbilicus and knees “bathing suit area”.

Question 15

Which of the following is related to Fabry’s disease ?

A	Zebra bodies
B	Maltese cross
C	Cornea verticillata
D	All of the above

Question 15 Explanation:

Renal biopsy reveals small clear vacuoles containing globotriaosylceramide in glomeruli, parietal and tubular epithelia. These vacuoles of electron-dense materials in parallel arrays (zebra bodies) are easily seen on electron microscopy. Urinalysis in Fabry’s disease may reveal oval fat bodies and birefringent glycolipid globules under polarized light (Maltese cross).

Question 16

Footdrop is a prominent feature of ?

A	Refsum disease
B	Peroneal Neuropathy
C	CMT1
D	All of the above

Question 17

Refsum disease is caused by defective oxidation of ?

A	Formic acid
B	Glycolic acid
C	Oxalic acid
D	Phytanic acid

Question 17 Explanation:

Refsum disease (autosomal recessive) is caused by mutations in the gene that encodes for phytanoyl-CoA alpha-hydroxylase (PAHX). This mutations lead to elevation of serum phytanic acid levels and accumulation of phytanic acid in central and peripheral nervous systems. Refsum disease is treated by removing phytanic precursors (phytols: fish oils, dairy products, and ruminant fats) from diet.

Question 18

The classic tetrad of Refsum disease include all except ?

A	Peripheral neuropathy
B	Retinitis pigmentosa
C	Cerebellar ataxia
D	Normal CSF protein concentration

Question 18 Explanation:

The classic tetrad of Refsum disease include peripheral neuropathy, retinitis pigmentosa, cerebellar ataxia, and elevated CSF protein concentration.

Question 19

Presentation of Refsum disease include ?

A	Anosmia
B	Sensorineural deafness
C	Cerebellar ataxia
D	All of the above

Question 20

Presentation of Tangier disease resembles those of ?

A	Guillain-Barré syndrome
B	Syringomyelia
C	Multiple sclerosis
D	Amyotrophic lateral sclerosis

Question 20 Explanation:

Tangier disease is a rare autosomal recessive disorder that can present as asymmetric multiple mononeuropathies, slowly progressive symmetric polyneuropathy predominantly in legs, and a pseudo-syringomyelia pattern with dissociated sensory loss (i.e., abnormal pain/temperature perception but preserved position/vibration in the arms

Question 21

Which of the following forms of porphyria are associated with peripheral neuropathy ?

A	Acute intermittent porphyria (AIP)
B	Hereditary coproporphyria (HCP)
C	Variegate porphyria (VP)
D	All of the above

Question 21 Explanation:

Three forms of porphyria are associated with peripheral neuropathy - acute intermittent porphyria (AIP), hereditary coproporphyria (HCP), and variegate porphyria (VP).

Question 22

Which of the following tests is useful in porphyria ?

A	Increased urinary excretion of aminolevulinic acid
B	Increased urinary excretion of porphobilinogen
C	Increased 24-hour fecal excretion of protoporphyrin & coproporphyrin
D	All of the above

Question 23

Mutations in which of the following genes is responsible for familial amyloid neuropathy ?

A	Plasmapheresis
B	Liver transplantation
C	Kidney transplantation
D	IVIg

Question 23 Explanation:

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See all quizzes of Peripheral Neuropathy here:

1 DéJerine-Sottas syndrome is caused by mutations of ?
A. PMP22
B. Myelin protein zero (MPZ)
C. Early growth response gene (ERG2)
D. All of the above

2 Gap junctions consist of membrane-spanning proteins called ?
A. Spannins
B. Membranins
C. Connexins
D. All of the above

3 Mutation of which gene of gap junction protein is responsible for
X-linked Charcot-Marie-Tooth disease ?
A. Connexin 26
B. Connexin 32
C. Connexin 42
D. Connexin 48

4 Which of the following about HNPP is false ?
A. Affected individuals have only one copy of PMP-22 gene
B. Weakness in distribution of single peripheral nerves
C. Symptoms precipitated by trivial compression of nerve
D. None of the above

5 Most commonly involved nerve in HNPP is ?
A. Peroneal
B. Ulnar
C. Radial
D. Median

6 Hereditary Neuralgic Amyotrophy (HNA) is caused by mutations
in ?
A. Septin 9 (SEPT9)
B. ATP-binding cassette transporter 1 (ABC1) gene
C. Mitofusin 2 (MFN2) gene
D. Transthyretin (TTR) gene

7 Which of the following is best related to Hereditary Neuralgic
Amyotrophy (HNA) ?
A. Lumbosacral plexus
B. Brachial plexus
C. Charcot joints
D. Deep dermal ulcerations

8 Apart from demyelinating CMT, what else characterizes Roussy-
LéVy syndrome ?
A. Action tremor
B. Deafness
C. Blindness
D. Spina bifida

9 Riley-Day syndrome is also called ?
A. HSAN 1
B. HSAN 2
C. HSAN 3
D. HSAN 4

10 Hereditary Sensory and Autonomic Neuropathy1A (HSAN1A) is
caused by mutations in ?
A. Septin 9 (SEPT9)
B. Serine palmitoyltransferase long-chain base 1 (SPTLC1)
C. Mitofusin 2 (MFN2)
D. Transthyretin (TTR)

11 Which of the following is a feature of HSAN1 ?
A. Deep dermal ulcerations
B. Recurrent osteomyelitis
C. Gross foot and hand deformities
D. All of the above

12 Which of the following about Fabry Disease is false ?
A. X-linked dominant disorder
B. Reddish-purple maculopapular lesions
C. Premature atherosclerosis
D. None of the above
13 Fabry disease is caused by mutations in ?
A. Alpha-galactosidase gene
B. ATP-binding cassette transporter 1 (ABC1) gene
C. Mitofusin 2 (MFN2) gene
D. Transthyretin (TTR) gene

14 Manifestations of Fabry disease include all except ?
A. Angiokeratomas (telangiectatic skin lesions)
B. Hyperhidrosis
C. Corneal and lenticular opacities
D. Acroparesthesia

15 Angiokeratomas in Fabry’s disease are best seen in ?
A. Between umbilicus and knees
B. Nape of the neck
C. FIngers of hand
D. Nose

16 Which of the following is related to Fabry’s disease ?
A. Zebra bodies
B. Maltese cross
C. Cornea verticillata
D. All of the above

17 Footdrop is a prominent feature of ?
A. Refsum disease
B. Peroneal Neuropathy
tahir99 – UnitedVRG
C. CMT1
D. All of the above
18 Refsum disease is caused by defective oxidation of ?
A. Formic acid
B. Glycolic acid
C. Oxalic acid
D. Phytanic acid

19 The classic tetrad of Refsum disease include all except ?
A. Peripheral neuropathy
B. Retinitis pigmentosa
C. Cerebellar ataxia
D. Normal CSF protein concentration

20 Presentation of Refsum disease include ?
A. Anosmia
B. Sensorineural deafness
C. Cerebellar ataxia
D. All of the above

21 Severe deficiency of which of the following occurs in Tangier
Disease (TD) ?
A. High-density lipoproteins (HDL)
B. Low-density lipoproteins (HDL)
C. Very low-density lipoproteins (HDL)
D. Triglycerides

22 Presentation of Tangier disease resembles those of ?
A. Guillain-Barré syndrome
B. Syringomyelia
C. Multiple sclerosis
D. Amyotrophic lateral sclerosis

23 Which of the following forms of porphyria are associated with
peripheral neuropathy ?
A. Acute intermittent porphyria (AIP)
B. Hereditary coproporphyria (HCP)
C. Variegate porphyria (VP)
D. All of the above

24 Which of the following tests is useful in porphyria ?
A. Increased urinary excretion of aminolevulinic acid
B. Increased urinary excretion of porphobilinogen
C. Increased 24-hour fecal excretion of protoporphyrin &
coproporphyrin
D. All of the above
25 Mutations in which of the following genes is responsible for
familial amyloid neuropathy ?
A. Transthyretin (FAP 1 & 2)
B. Apolipoprotein A1 (FAP 3)
C. Gelosin (FAP 4)
D. All of the above

26 Which of the following modalities halts disease progression in
familial amyloid neuropathy ?
A. Plasmapheresis
B. Liver transplantation
C. Kidney

D. IVIg

Peripheral Neuropathy

[MCQ] Peripheral Neuropathy – Part 3

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Peripheral Neuropathy - Part 3

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