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Longitudinally extensive spinal cord infarction in CADASIL
  1. S Hinze1,
  2. M Goonasekera1,
  3. S Nannucci2,3,
  4. G Quaghebeur4,
  5. D Briley1,
  6. H S Markus5,
  7. A Sen1,6
  1. 1Department of Neurology, Oxford University Hospitals NHS Trust, Oxford, UK
  2. 2Stroke and Dementia Research Centre, St George's University of London, London, UK
  3. 3NEUROFARBA Department, Neuroscience Section, University of Florence, Florence, Italy
  4. 4Department of Neuroradiology, Oxford University Hospitals NHS Trust, Oxford, UK
  5. 5Clinical Neurosciences, University of Cambridge, Cambridge, UK
  6. 6Oxford Epilepsy Research Group, Nuffield Department of Clinical Neuroscience, National Institute for Health Research, Oxford Biomedical Research Centre, The John Radcliffe Hospital, Oxford, UK
  1. Correspondence to Dr Stephan Hinze, Department of Neurology, Oxford University Hospitals NHS Trust, West Wing, Level 3, John Radcliffe Hospital, Headley Way, Oxford OX3 9DU, UK; Stephan.Hinze{at}gwh.nhs.uk

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Introduction

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.

Case report

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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    Phil Smith Geraint Fuller