Brain, Vol. 123, No. 5, 975-991,
May 2000
© 2000 Oxford University Press
Familial British dementia with amyloid angiopathy
Early clinical, neuropsychological and imaging findings
1 Department of Clinical Neurology, National Hospital for Neurology and Neurosurgery, 2 Department of Neuropathology, Institute of Neurology, 3 Departments of Neuropathology and 4 Clinical Neurology, King's College Hospital, London, UK, 5 Department of Clinical Neurology, Groote Schuur Hospital, Cape Town, South Africa and 6 Department of Pathology, New York University School of Medicine, New York, USA
Correspondence to:
Gordon Plant, Department of Clinical Neurology, National Hospital for Neurology and Neurosurgery, Queen Square, London, UK
Familial British dementia with amyloid angiopathy (FBD) is an autosomal dominant condition characterized by a dementia, progressive spastic tetraparesis and cerebellar ataxia with onset in the sixth decade. A point mutation in the BRI gene has been shown to be the genetic abnormality. Genealogical work with the large family originally reported by Worster-Drought and updated by Plant has identified nine generations dating back to the late eighteenth century. The pedigree now includes six living affected patients, 35 historical cases, and 52 descendants at risk of having inherited the disease. A common ancestor has been identified between the large pedigree and a case report of `familial cerebellar ataxia with amyloid angiopathy'. An autopsy case from a separate family with an identical condition is described but no common ancestor with the large pedigree has been found. Case histories have been researched and updated in each pedigree. Eleven individuals at risk of FBD, aged between 44 and 56 years, agreed to undergo a clinical and neuropsychological assessment along with MRI brain imaging in order to clarify early diagnostic features. Five of the eleven were thought to show early clinical signs of the disease. Neurological examination was abnormal in three, with limb and gait ataxia and mild spastic paraparesis. Three had impaired recognition and recall memory and another had mild impairment of delayed visual recall. All affected individuals had an abnormal MRI of the brain, consisting of deep white-matter hyperintensity (T2-weighted scans) and lacunar infarcts, but no intracerebral haemorrhage. The corpus callosum was affected particularly, and in one patient it was severely atrophic.
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