Question 1
A 23 year old male is seen in the clinic with freckling and café-au-lait nodules present in the left arm only. There is no family history of any rare neurological conditions. What is the MOST correct answer?
(A) Neurofibromatosis Type 2 – segmental
(B) Neurofibromatosis Type 1 – segmental
(C) Neurofibromatosis Type 2 – segmental
(D) Tuberous Sclerosis complex
(E) Von-Hippel Lindau syndrome
B: NF1 is an autosomal dominant condition seen in 1 in 3000 individuals. There disorder has complete penetrance but variable expression. Segmental abnormalities can occur if there is a mutation at the zygote stage, and complete expression of the disease occurs only if there is a germline mutation. The mutation occurs in chromosome 17q11.2 in the neurofibromin gene. This is a tumour suppressor gene that is expressed in many cell lines. Classic clinical manifestations include neurofibromas, café au lait spots, axillary and inguinal freckling, lisch nodules. The presentation may be variable. Neurofibromatosis type 2 is located on chromosome 22 and encodes a protein known as merlin. This protein is a structural protein and is expressed on Schwann cells, meningeal cells and peripheral nerve cells – explaining the presentation of adult patients with NF2 having vestibular schwannomas. Neurology 2001; 56:1433.
Question 2
A 24 year old male is referred from the general practitioner with progressive ataxia, facial fasiculations, tongue fasiculations, upgoing plantars and ankle and patella clonus. He has prominent vertical and horizontal nystagmus. He has a shuffling broad based gait. There is also impairment of upward conjugate gaze.
What is the most likely diagnosis?
(A) Spinocerebellar ataxia 3
(B) Multiple sclerosis
(C) Freidrichs ataxia
(D) Episodic ataxia
(E) Ataxia telangiectasia
A: The most likely diagnosis is a triplet repeat disorder of autosomal dominant origin known as SCA3 (chromosome 14, unstable CAG repeat). This disorder is the most common of the autosomal dominant ataxias, and has 3 subtypes. Subtype 3 presents in the fifth to seventh decade with dysarthria ad extremity ataxia. Subtype 1 presents with facial dystonia, fasiculations, horizontal and vertical nystagmus, opthalmoparesis especially to vertical gaze, clonus, upgoing plantars and shuffling gait. Friedric’s ataxia is another triplet repeat hereditary ataxia, however is accompanied by cardiomyopathy (in 90% of cases). Patients would suffer from nystagmus, extremity ataxia, dysarthria, dysmmetria and absence of ankle jerk reflexes with an extensor plantar response. MRI of the spinal cord would show atrophy. It involves the gene frataxin with expanded GAA repeats. Undetectable or very low levls of frataxin mRNA would be present. Episodic ataxia, as its name suggests, occurs in brief episodes with nystagmus lasting for only minutes. The disease gene has been mapped to the potassium channel. Patients with ataxia telangiectasia will have progressive telangiectatic lesions with deficits in cerebellar function and nystagmus. Clin Genet 71:12, 2007
Question 3
Which of the following features is NOT a benefit of the Mediterranean diet?
(A) decreased brain volume loss in elders
(B) decreases strokes
(C) decreases myocardial infarction
(D) decreases dietary glucose load
(E) decreases dietary glycemic index
C: Neurology 2015 Oct 21; N Engl J Med 2013; 368:1279-1290, Journal of Nutrition and Metabolism Volume 2014 Article ID 985373
Question 4
Which of the following is NOT associated with basal ganglia calcification?
(A) hyperparathyroidism
(B) hypoparathyroidism
(C) Tuberous sclerosis
(D) ageing
(E) Neurofibromatosis
C: Basal ganglia calcification can be found in 1% of all CT Brains, the majority of which are idiopathic and age related. Tuberous sclerosis shows calcification events called phakomas, which are typically distributed near the frontal lobes and in the periventricular white matter. Neurology 1979 vol. 29 no. 3 328
Question 5
Which of the following autoimmune diseases has the highest association with alemtuzumab, when used in the treatment of multiple sclerosis?
(A) Graves disease
(B) Type 1 diabetes melitis
(C) Autoimmune hypophysitis
(D) Autoimmune adrenalitis
(E) Idiopathic Thrombocytopenia
A: Graves disease, ITP and anti-GBM associated glomerulonephritis are autoimmune diseases that are associated with the use of alemtuzumab Lancet 2012; 380: 1819-1828. Med J Aust 2015; 203 (3): 139-141.
Question 6
Which of the following multiple sclerosis therapies is associated with the most favourable safety profile in pregnancy in multiple sclerosis?
(A) Alemtuxumab
(B) Natalizumab
(C) Teriflunamide
(D) Fingolimod
(E) Glatiramer acetate
E: This is pregnancy class B1 (as is dimethyl fumerate). Teriflunamide is pregnancy class X, and Fingolimod is pregnancy class D. Med J Aust 2015; 203 (3): 139-141.
A 23 year old male is seen in the clinic with freckling and café-au-lait nodules present in the left arm only. There is no family history of any rare neurological conditions. What is the MOST correct answer?
(A) Neurofibromatosis Type 2 – segmental
(B) Neurofibromatosis Type 1 – segmental
(C) Neurofibromatosis Type 2 – segmental
(D) Tuberous Sclerosis complex
(E) Von-Hippel Lindau syndrome
B: NF1 is an autosomal dominant condition seen in 1 in 3000 individuals. There disorder has complete penetrance but variable expression. Segmental abnormalities can occur if there is a mutation at the zygote stage, and complete expression of the disease occurs only if there is a germline mutation. The mutation occurs in chromosome 17q11.2 in the neurofibromin gene. This is a tumour suppressor gene that is expressed in many cell lines. Classic clinical manifestations include neurofibromas, café au lait spots, axillary and inguinal freckling, lisch nodules. The presentation may be variable. Neurofibromatosis type 2 is located on chromosome 22 and encodes a protein known as merlin. This protein is a structural protein and is expressed on Schwann cells, meningeal cells and peripheral nerve cells – explaining the presentation of adult patients with NF2 having vestibular schwannomas. Neurology 2001; 56:1433.
Question 2
A 24 year old male is referred from the general practitioner with progressive ataxia, facial fasiculations, tongue fasiculations, upgoing plantars and ankle and patella clonus. He has prominent vertical and horizontal nystagmus. He has a shuffling broad based gait. There is also impairment of upward conjugate gaze.
What is the most likely diagnosis?
(A) Spinocerebellar ataxia 3
(B) Multiple sclerosis
(C) Freidrichs ataxia
(D) Episodic ataxia
(E) Ataxia telangiectasia
A: The most likely diagnosis is a triplet repeat disorder of autosomal dominant origin known as SCA3 (chromosome 14, unstable CAG repeat). This disorder is the most common of the autosomal dominant ataxias, and has 3 subtypes. Subtype 3 presents in the fifth to seventh decade with dysarthria ad extremity ataxia. Subtype 1 presents with facial dystonia, fasiculations, horizontal and vertical nystagmus, opthalmoparesis especially to vertical gaze, clonus, upgoing plantars and shuffling gait. Friedric’s ataxia is another triplet repeat hereditary ataxia, however is accompanied by cardiomyopathy (in 90% of cases). Patients would suffer from nystagmus, extremity ataxia, dysarthria, dysmmetria and absence of ankle jerk reflexes with an extensor plantar response. MRI of the spinal cord would show atrophy. It involves the gene frataxin with expanded GAA repeats. Undetectable or very low levls of frataxin mRNA would be present. Episodic ataxia, as its name suggests, occurs in brief episodes with nystagmus lasting for only minutes. The disease gene has been mapped to the potassium channel. Patients with ataxia telangiectasia will have progressive telangiectatic lesions with deficits in cerebellar function and nystagmus. Clin Genet 71:12, 2007
Question 3
Which of the following features is NOT a benefit of the Mediterranean diet?
(A) decreased brain volume loss in elders
(B) decreases strokes
(C) decreases myocardial infarction
(D) decreases dietary glucose load
(E) decreases dietary glycemic index
C: Neurology 2015 Oct 21; N Engl J Med 2013; 368:1279-1290, Journal of Nutrition and Metabolism Volume 2014 Article ID 985373
Question 4
Which of the following is NOT associated with basal ganglia calcification?
(A) hyperparathyroidism
(B) hypoparathyroidism
(C) Tuberous sclerosis
(D) ageing
(E) Neurofibromatosis
C: Basal ganglia calcification can be found in 1% of all CT Brains, the majority of which are idiopathic and age related. Tuberous sclerosis shows calcification events called phakomas, which are typically distributed near the frontal lobes and in the periventricular white matter. Neurology 1979 vol. 29 no. 3 328
Question 5
Which of the following autoimmune diseases has the highest association with alemtuzumab, when used in the treatment of multiple sclerosis?
(A) Graves disease
(B) Type 1 diabetes melitis
(C) Autoimmune hypophysitis
(D) Autoimmune adrenalitis
(E) Idiopathic Thrombocytopenia
A: Graves disease, ITP and anti-GBM associated glomerulonephritis are autoimmune diseases that are associated with the use of alemtuzumab Lancet 2012; 380: 1819-1828. Med J Aust 2015; 203 (3): 139-141.
Question 6
Which of the following multiple sclerosis therapies is associated with the most favourable safety profile in pregnancy in multiple sclerosis?
(A) Alemtuxumab
(B) Natalizumab
(C) Teriflunamide
(D) Fingolimod
(E) Glatiramer acetate
E: This is pregnancy class B1 (as is dimethyl fumerate). Teriflunamide is pregnancy class X, and Fingolimod is pregnancy class D. Med J Aust 2015; 203 (3): 139-141.
