Neuro - Conditions

Question 1

Friedrich’s Ataxia - Genetics

Answer 1

• Trinucleotide expansion
• Frataxin gene
• Chromosome 9
• Autosomal Recessive

Question 2

Friedrich’s Ataxia - Complications

Answer 2

• HCM and cardiac arrhythmias
• Diabetes Mellitus

Question 3

MND - Subtypes

Answer 3

ALS (most common)
Progressive Muscular Atrophy (Just LMN)
Primary Lateral Sclerosis (Just UMN)

Question 4

Retinitis Pigmentosa - Associated Syndromes

Answer 4

• Usher Syndrome (+ b/l SN hearing loss)
• Kearns-Sayre Syndrome (+ complex opthalmoplegia, hearing loss, cardiac conduction issues)
• Bardet-Biedl Syndrome (+ central obesity, polydactyly, renal dysfunction, hypogonadism)
• Abetalipoproteinaemia (+ peripheral neuropathy, ADEK-deficiency, acanthocytosis)
• Refsum’s Disease (+ ataxia, SN deafness)
• McLeod Syndrome (+ Peripheral neuropathy, cardiomyopathy, haemolytic anaemia, acanthocytosis)

Question 5

NF1

Answer 5

• NF1 gene mutation, Chrom 17
• Neurofibromas +++
• Cafe au lait spots
• Lisch nodules (retinal)
• Axillary Freckling
• Optic glioma

Question 6

NF2

Answer 6

• Mutation in NF2 gene, Chrom 22
• Bilateral vestibular schwannoma
• Meningioma
• Early cataracts

Question 7

Tuberous Sclerosis

Answer 7

Mutations in:
- TSC1, Chrom 9
- TSC2, Chrom 16

• Adenoma Sebaceum
• Ash leaf spots
• Shagreen patches
• Seizures
• Psychiatric issues
• Retinal Harmatomas
• Periungual fibromas
• Lymphangioleiomyomatosis
• Renal/hepatic angiomyolipomas

Question 8

Fundoscopy - Angioid Streaks (Causes)

Answer 8

(DASH PP)

• Diabetes
• Acromegaly
• Sickle cell disease
• Haemochromatosis
• Pseudoxanthoma elasticum
• Paget’s disease