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Association of British Neurologists September Meeting 2010
12 Clinical and radiological features of COL4A1 disease
  1. S Shah,
  2. B McLean,
  3. S Ellard,
  4. A Churchill,
  5. R Kneen,
  6. M Lim,
  7. J Rankin,
  8. N Stoodley,
  9. M S van der Knaap,
  10. A Whitney,
  11. P Jardine
  1. 1Bristol Royal Hospital for Children, Bristol, UK
  2. 2Royal Cornwall Hospital NHS Trust, Truro, UK
  3. 3Royal Devon and Exeter Foundation Trust, Exeter, UK
  4. 4Bristol Eye Hospital, Bristol, UK
  5. 5Alder Hey Children's Hospital, Liverpool, UK
  6. 6Evelina Children's Hospital, London, UK
  7. 7Frenchay Hospital, South Gloucestershire, UK
  8. 8VU University Medical Centre, Amsterdam, The Netherlands
  9. 9Southampton General Hospital, Southampton, UK
  1. Correspondence to sidh909{at}


Background Mutation in the collagen gene COL4A1 is a newly recognised cause of cerebral small vessel disease leading to porencephaly and/or stroke. It is inherited as an autosomal dominant trait and has a wide inter and intrafamilial variation in presentation. We present the details of 5 UK families with a COL4A1 mutation.

Results Presentation of index case was recurrent stroke in 2/5 at age 14 years and 4 years, infantile hemiplegia in 2/5 and infantile spasms in 1/5. Stroke occurred following a surgical procedure under general anaesthesia in 2 families. A history of migraine was present in family members in 3/5 families. Congenital cataracts with/without anterior segment dysgenesis was present in 4/5 cases and nystagmus was present in the 1 case without cataracts. MRI showed leukoencephalopathy involving deep white matter in 5/5 cases and porencephaly in cases with infantile hemiplegia. Gradient echo detected microhaemorrhages. A COL4A1 mutation was confirmed in all index cases. The same mutation in exon 30 leading to the same phenotype was found in 2 cases.

Conclusion We suggest that COL4A1 mutation should be considered in individuals with 2 or more features of leukoencephalopathy, porencephaly, micro or macrohaemorrhages or cataracts/anterior segment dysgenesis especially if a family history is present. We propose an investigation protocol to look for the various features of the disease. General anaesthesia might be a risk factor for strokes.

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