CADASIL — SCE Neurology MCQ

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HardNeurogenetics and NeuroimmunologyCADASILSCE Neurology

A 24-year-old has recurrent migraine-like episodes with encephalopathy and cortical visual loss that cross arterial territories. He also has short stature, sensorineural deafness, diabetes and maternal relatives with similar disease. Which test best addresses the diagnosis?

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Correct answer: D — Mitochondrial-DNA analysis in blood and an informative tissue

The best answer is “Mitochondrial-DNA analysis in blood and an informative tissue”. Stroke-like episodes outside vascular territories with maternal multisystem inheritance suggest MELAS, commonly related to an MT-TL1 variant; heteroplasmy varies by tissue, so urine, muscle or another informative sample may be required. “NOTCH3 sequencing for an autosomal-dominant arteriopathy” is less appropriate because CADASIL is autosomal dominant and usually causes lacunar or migraine disease without this mitochondrial systemic pattern “Serum AQP4-IgG testing for relapsing optic neuritis” is less appropriate because AQP4 autoimmunity does not explain maternal deafness and diabetes “HTT CAG-repeat analysis for a progressive chorea syndrome” is less appropriate because Huntington disease produces progressive chorea rather than stroke-like metabolic crises “FMR1 premutation testing for a late-onset ataxia syndrome” is less appropriate because FXTAS occurs in older premutation carriers and is not maternally inherited mitochondrial disease

Reference: GeneReviews: Primary Mitochondrial Disorders Overview. https://www.ncbi.nlm.nih.gov/books/NBK1224/