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Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary small-vessel disease caused by mutations in the NOTCH-3 gene. Characteristic features include early onset lacunar stroke, migraine usually with aura and cognitive impairment with early onset subcortical dementia.1 Pathological studies show involvement of small arteries throughout the body,2 although these symptoms are typically confined to the central nervous system.
A 48-year-old woman presented with a rapidly progressive spastic paraparesis. Following the sudden onset of severe back pain, she experienced left leg spasms and hyperacute left leg weakness that progressed over 12 h. Over the subsequent 24 h, her right leg was similarly affected and she developed urinary retention.
She had no past history of neurological or psychiatric illness and took no regular medication. Her family history was noteworthy: her maternal grandmother developed migraines at the age of 40 and paraparesis later in life; her mother experienced migrainous headaches from the age of 50; her brother suffered a stroke aged 40 and her son had migraines.
On examination, there was no obvious cognitive impairment (Addenbrooke's Cognitive Examination Revised 84/100 with English as a second language; lower limit of normal for …
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