[MCQ] Ataxic Disorders- Part 3

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Ataxic Disorders- Part 3

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Question 1

Neurologic genetic disorders inherited in Mendelian autosomal dominant mutations include all except ?

A	Huntington’s Disease (HD)
B	Familial Alzheimer’s Disease
C	Amyotrophic lateral sclerosis (ALS)
D	Friedreich’s ataxia (FA)

Question 2

Neurologic genetic disorders inherited in Mendelian autosomal dominant mutations include all except ?

A	Dystrophia myotonica (DM)
B	Ataxia telangiectasia
C	Charcot-Marie-Tooth disease 1A (CMT 1A)
D	Familial Hyperkalemic periodic paralysis (HYPP)

Question 3

Neurologic genetic disorders inherited in Mendelian autosomal dominant mutations include all except ?

A	Spinocerebellar ataxia (SCA)
B	Tuberous sclerosis
C	Wilson’s disease
D	Charcot-Marie-Tooth disease 1A (CMT 1A)

Question 4

Neurologic genetic disorders inherited as Mendelian autosomal recessive include all except ?

A	Friedreich’s ataxia (FA)
B	Wilson’s disease
C	Tuberous sclerosis
D	Ataxia telangiectasia

Question 5

Neurologic genetic disorders inherited as X-linked recessive traits include all except ?

A	Duchenne muscular dystrophy (DMD)
B	Spinobulbar muscular atrophy (SBMA)
C	Fragile X syndrome
D	Friedreich’s ataxia (FA)

Question 6

Which of the following neurotransmitter function by signaling in a retrograde fashion - from postsynaptic to presynaptic cell ?

A	Substance P
B	Enkephalin
C	Neuropeptide Y
D	Nitric oxide

Question 6 Explanation:

Nitric oxide and carbon monoxide are gases that also function as neurotransmitters, in part by signaling in a retrograde fashion from postsynaptic to the presynaptic cell.

Question 7

Which of the following is false about neurotransmitter receptors ?

A	Ionotropic receptors are direct ion channels
B	Metabotropic receptors interact with G proteins
C	Ionotropic receptors are single subunits
D	Kinetics of ionotropic receptor effects are fast

Question 7 Explanation:

Ionotropic receptors are multiple-subunit structures, whereas metabotropic receptors are composed of single subunits only. Kinetics of ionotropic receptor effects are fast (<1 ms) whereas metabotropic receptors function over longer periods.

Question 8

In episodic ataxia, symptoms and episodic attacks of ataxia responsive to ?

A	Lithium
B	Atypical antipsychotic drugs
C	Acetazolamide
D	Electroconvulsive therapy (ECT)

Question 8 Explanation:

Symptoms & episodic attacks of episodic ataxia type 1 & 2 are responsive to acetazolamide (AZM) or or anticonvulsants.

Question 9

Episodic ataxia episodes are precipitated by ?

A	Hunger
B	Exercise
C	Sleep
D	Meals

Question 9 Explanation:

Episodes of ataxia in EA 1 & 2, with gait imbalance & slurring of speech, occur spontaneously or are precipitated by sudden movement, excitement, stress, exercise, or excessive fatigue

Question 10

What was the nationality of Nicholaus Friedreich, after whom Friedreich’s ataxia has been named ?

A	British
B	French
C	German
D	Spanish

Question 10 Explanation:

Friedreich’s ataxia is named after the German physician Nicholaus Friedreich, who first described the condition in 1860s.

Question 11

Primary site of pathology in Friedreich’s ataxia is ?

A	Spinal cord
B	Dorsal root ganglion cells
C	Peripheral nerves
D	All of the above

Question 11 Explanation:

Primary pathology in Friedreich’s ataxia is in spinal cord (sclerosis and degeneration in spinocerebellar tracts, lateral corticospinal tracts and posterior columns), dorsal root ganglion cells and peripheral nerves (loss of large myelinated fibers).

Question 12

Which of the following diseases is due to genetic abnormalities of DNA mismatch/repair ?

A	Bloom’s syndrome
B	Ataxia telangiectasia
C	Hereditary nonpolyposis colon cancer (HNPCC)
D	All of the above

Question 12 Explanation:

Genetic abnormalities of DNA mismatch/repair include Fanconi anemia, xeroderma pigmentosum, Bloom’s syndrome, ataxia telangiectasia, and hereditary nonpolyposis colon cancer (HNPCC). They strongly predispose to neoplasia because of the rapid acquisition of additional mutations

Question 13

Classic form of Friedreich’s ataxia is mapped to chromosome ?

A	4
B	5
C	6
D	9

Question 13 Explanation:

Friedreich’s ataxia is an autosomal recessive congenital ataxia and is caused by a mutation in gene FXN (formerly known as X25) that codes for frataxin, located on chromosome 9q13-q21.1

Question 14

Which of the following is a large-fiber sensory neuropathy ?

A	Friedreich’s ataxia
B	Lepromatous leprosy
C	Diabetes mellitus
D	Antiretroviral therapy neuropathy

Question 15

Which of the following is a cause of pure sensory neuropathy ?

A	Pyridoxine toxicity
B	Friedreich’s ataxia
C	Cisplatin neuropathy
D	All of the above

Question 15 Explanation:

Causes of pure sensory neuropathy include Friedreich’s ataxia, idiopathic sensory neuropathy, sensory neuropathy associated with Sjögren syndrome, vitamin B12 neuropathy, pyridoxine toxicity & cisplatin neuropathy.

Question 16

Painful sensory neuropathy is an early feature of ?

A	Lepromatous leprosy
B	Diabetic small-fiber neuropathy
C	Amyloidosis
D	All of the above

Question 16 Explanation:

A painful sensory neuropathy is an early feature of hereditary sensory neuropathies, lepromatous leprosy, diabetic small-fiber neuropathy, amyloidosis, Tangier Disease (TD), Fabry’s disease & dysautonomia.

Question 17

Which of the following is a cause of pure motor neuropathy ?

A	GBS
B	Acute intermittent porphyria
C	Diphtheria
D	All of the above

Question 17 Explanation:

Causes of predominantly motor neuropathies include GBS, CIDP, multifocal motor neuropathy (MMN), brachial neuropathy, diabetic lumbosacral radiculoplexus neuropathy (diabetic amyotrophy), neuropathy due to spinal muscular atrophy, acute intermittent porphyria, diphtheria, lead & dapsone.

Question 18

Mutant gene in classic form of Friedreich’s ataxia is ?

A	Frataxin
B	Ataxin 1
C	Ataxin 2
D	All of the above

Question 18 Explanation:

The classic form of Friedreich’s ataxia is mapped to 9q13-q21.1. Mutant gene frataxin contains expanded GAA triplet repeats in the first intron. Because the defect is located on an intron (which is removed from the mRNA transcript between transcription and translation), this mutation does not result in the production of abnormal frataxin proteins. Instead, the mutation causes gene silencing (i.e., the mutation decreases the transcription of the gene) through induction of a heterochromatin structure. In Friedreich’s ataxia, patients have 200 - 900 GAA repeats (normal 7 - 22). Altered protein is called frataxin.

Question 19

Which of the following about Friedreich’s ataxia is false ?

A	Frataxin is a mitochondrial protein for iron homeostasis
B	Excess oxidized intramitochondrial iron
C	Iron chelators and antioxidants are potentially harmful
D	None of the above

Question 19 Explanation:

Frataxin mRNA and frataxin protein are low in Friedreich’s ataxia. Frataxin is a mitochondrial protein involved in iron homeostasis. Mitochondrial iron accumulation due to loss of the iron transporter coded by the mutant frataxin gene results in oxidized intramitochondrial iron resulting in oxidation of cellular components & irreversible cell injury. Iron chelators and antioxidants are potentially harmful.

Question 20

Which of the following about Friedreich’s ataxia is false ?

A	Presents before 25 years of age
B	Lower extremities more severely involved than upper
C	Flexor plantar responses
D	Absence of deep tendon reflexes

Question 20 Explanation:

Friedreich’s ataxia presents before 25 years of age. Lower extremities are more severely involved than upper. Extensor plantar responses (with normal tone in trunk & extremities), absence of deep tendon reflexes are found. Loss of vibratory & proprioceptive sensation occurs.

Question 21

Which of the following about Friedreich’s ataxia is false ?

A	Cardiac involvement occurs in 90% of patients
B	High incidence of diabetes mellitus
C	Severe mental retardation
D	Musculoskeletal deformities are common

Question 21 Explanation:

Cardiomegaly, symmetric hypertrophy, murmurs & conduction defects reported in ~90% of patients. Diabetes mellitus is found in 20%. Pes cavus, pes equinovarus and progressive scoliosis common. Mental retardation is uncommon.

Question 22

Which of the following MRI finding is typical of Friedreich’s ataxia ?

A	Brainstem atrophy
B	Cerebellar SOL
C	Spinal cord atrophy
D	Obstructive hydrocephalus

Question 22 Explanation:

Neuroimaging reveals thinning of the cervical spinal cord.

Question 23

Which of the following drugs is of use in Friedreich’s ataxia ?

A	Desferrioxamine
B	Idebenone
C	Ascorbic acid
D	All of the above

Question 23 Explanation:

Idebenone, a short-chain analogue of coenzyme Q10 when used at an early stage reduces progression of cerebellar manifestation

Question 24

Which of the following is a feature of Bassen-Kornzweig syndrome ?

A	Diabetes mellitus
B	Cardiomyopathy
C	Abetalipoproteinemia
D	Hypothyroidism

Question 24 Explanation:

Bassen-Kornzweig syndrome is an autosomal recessive disorder in which a person is unable to fully absorb dietary fats through intestines. It is caused by a defect in microsomal triglyceride transfer protein (MTP) gene. Defects in MTP result in impairment of formation and secretion of VLDL in liver (abetalipoproteinemia). This defect results in a deficiency of delivery of vitamin E to tissues, including the central & peripheral nervous system, as VLDL is the transport molecule for vitamin E.

Question 25

Which of the following is false regarding ataxia with vitamin E deficiency (AVED) ?

A	Due to mutations in gene for  tocopherol transfer protein
B	Autosomal recessive
C	Chromosomal localization is on 8q13
D	None of the above

Question 25 Explanation:

AVED is due to mutations in the gene for alpha-tocopherol transfer protein ( TTP). These patients have an impaired ability to bind vitamin E into the VLDL produced and secreted by the liver, resulting in a deficiency of vitamin E in peripheral tissues

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See all quizzes of Ataxic Disorders at here:

1 Neurologic genetic disorders inherited in Mendelian autosomal
dominant mutations include all except ?
A. Huntington’s Disease (HD)
B. Familial Alzheimer’s Disease
C. Amyotrophic lateral sclerosis (ALS)
D. Friedreich’s ataxia (FA)
2 Neurologic genetic disorders inherited in Mendelian autosomal
dominant mutations include all except ?
A. Dystrophia myotonica (DM)
B. Ataxia telangiectasia
C. Charcot-Marie-Tooth disease 1A (CMT 1A)
D. Familial Hyperkalemic periodic paralysis (HYPP)
3 Neurologic genetic disorders inherited in Mendelian autosomal
dominant mutations include all except ?
A. Spinocerebellar ataxia (SCA)
B. Tuberous sclerosis
C. Wilson’s disease
D. Charcot-Marie-Tooth disease 1A (CMT 1A)
4 Neurologic genetic disorders inherited as Mendelian autosomal
recessive include all except ?
A. Friedreich’s ataxia (FA)
B. Wilson’s disease
C. Tuberous sclerosis
D. Ataxia telangiectasia
5 Neurologic genetic disorders inherited as X-linked recessive traits
include all except ?
A. Duchenne muscular dystrophy (DMD)
B. Spinobulbar muscular atrophy (SBMA)
C. Fragile X syndrome
D. Friedreich’s ataxia (FA)
6 Which of the following neurotransmitter function by signaling in
a retrograde fashion – from postsynaptic to presynaptic cell ?
A. Substance P
B. Enkephalin
C. Neuropeptide Y
D. Nitric oxide

7 Which of the following is false about neurotransmitter receptors ?
A. Ionotropic receptors are direct ion channels
B. Metabotropic receptors interact with G proteins
C. Ionotropic receptors are single subunits
D. Kinetics of ionotropic receptor effects are fast

8 In episodic ataxia, symptoms and episodic attacks of ataxia
responsive to ?
A. Lithium
B. Atypical antipsychotic drugs
C. Acetazolamide
D. Electroconvulsive therapy (ECT)

9 Episodic ataxia episodes are precipitated by ?
A. Hunger
B. Exercise
C. Sleep
D. Meals

10 What was the nationality of Nicholaus Friedreich, after whom
Friedreich’s ataxia has been named ?
A. British
B. French
C. German
D. Spanish

11 Primary site of pathology in Friedreich’s ataxia is ?
A. Spinal cord
B. Dorsal root ganglion cells
C. Peripheral nerves
D. All of the above

12 Which of the following diseases is due to genetic abnormalities of
DNA mismatch/repair ?
A. Bloom’s syndrome
B. Ataxia telangiectasia
C. Hereditary nonpolyposis colon cancer (HNPCC)
D. All of the above

13 Classic form of Friedreich’s ataxia is mapped to chromosome ?
A. 4
B. 5
C. 6
D. 9

14 Which of the following is a large-fiber sensory neuropathy ?
A. Friedreich’s ataxia
B. Lepromatous leprosy
C. Diabetes mellitus
D. Antiretroviral therapy neuropathy
15 Which of the following is a cause of pure sensory neuropathy ?
A. Pyridoxine toxicity
B. Friedreich’s ataxia
C. Cisplatin neuropathy
D. All of the above

16 Painful sensory neuropathy is an early feature of ?
A. Lepromatous leprosy
B. Diabetic small-fiber neuropathy
C. Amyloidosis
D. All of the above

15 Which of the following is a cause of pure motor neuropathy ?
A. GBS
B. Acute intermittent porphyria
C. Diphtheria
D. All of the above

16 Mutant gene in classic form of Friedreich’s ataxia is ?
A. Frataxin
B. Ataxin 1
C. Ataxin 2
D. All of the above

17 Which of the following about Friedreich’s ataxia is false ?
A. Frataxin is a mitochondrial protein for iron homeostasis
B. Excess oxidized intramitochondrial iron
C. Iron chelators and antioxidants are potentially harmful
D. None of the above
.
18 Which of the following about Friedreich’s ataxia is false ?
A. Presents before 25 years of age
B. Lower extremities more severely involved than upper
C. Flexor plantar responses
D. Absence of deep tendon reflexes

19 Which of the following about Friedreich’s ataxia is false ?
A. Cardiac involvement occurs in 90% of patients
B. High incidence of diabetes mellitus
C. Severe mental retardation
D. Musculoskeletal deformities are common

20 Which of the following MRI finding is typical of Friedreich’s ataxia ?
A. Brainstem atrophy
B. Cerebellar SOL
C. Spinal cord atrophy
D. Obstructive hydrocephalus

21 Which of the following drugs is of use in Friedreich’s ataxia ?
A. Desferrioxamine
B. Idebenone
C. Ascorbic acid
D. All of the above

22 Which of the following is a feature of Bassen-Kornzweig syndrome ?
A. Diabetes mellitus
B. Cardiomyopathy
C. Abetalipoproteinemia
D. Hypothyroidism

23 Which of the following is false regarding ataxia with vitamin E
deficiency (AVED) ?
A. Due to mutations in gene for  tocopherol transfer protein
B. Autosomal recessive
C. Chromosomal localization is on 8q13
D. None of the above

Ataxic Disorders

[MCQ] Ataxic Disorders- Part 3

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Ataxic Disorders- Part 3

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