1/6. Familial British dementia with amyloid angiopathy: early clinical, neuropsychological and imaging findings.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 (T(2)-weighted scans) and lacunar infarcts, but no intracerebral haemorrhage. The corpus callosum was affected particularly, and in one patient it was severely atrophic.- - - - - - - - - - ranking = 1keywords = haemorrhage (Clic here for more details about this article) |
2/6. cerebral amyloid angiopathy (CAA) with presentation as a brain inflammatory pseudo-tumour.cerebral amyloid angiopathy (CAA) is frequent but often asymptomatic. It can induce lobar haemorrhage, rapidly progressive dementia or recurrent transient neurological symptoms, other presentations being less frequent. We report 3 patients in their sixties presenting with a space occupying lesion which was the first manifestation of CAA. They were operated with a diagnosis of cerebral tumour. In all three cases, macroscopy was similar, the lesions were superficial in the cerebral cortex and the preoperative diagnoses were glioblastoma, meningioma and cavernoma. Histologically, the lesions consisted of a large inflammatory granuloma with numerous lipophages and siderophages surrounding capillaries with prominent endothelial cells. Vessels in the near cortex and meninges and within the granuloma harboured heavy amyloid deposits immunolabelled by anti-P component, anti-protein beta A4 with a A40 predominance and anti-apolipoprotein E. Adjacent cerebral cortex showed reactive gliosis and rare senile plaques. amyloidosis is rarely considered among diagnoses of space occupying lesions. In our three cases, CT scan and MRI changes were related to the presence of an inflammatory granuloma around foci of haemorrhage and amyloid laden vessels.- - - - - - - - - - ranking = 2keywords = haemorrhage (Clic here for more details about this article) |
3/6. Presenile dementia and cerebral haemorrhage linked to a mutation at codon 692 of the beta-amyloid precursor protein gene.Several families with an early-onset form of familial Alzheimer's disease have been found to harbour mutations at a specific codon (717) of the gene for the beta-amyloid precursor protein (APP) on chromosome 21. We now report, a novel base mutation in the same exon of the APP gene which co-segregates in one family with presenile dementia and cerebral haemorrhage due to cerebral amyloid angiopathy. The mutation results in the substitution of alanine into glycine at codon 692. These results suggest that the clinically distinct entities, presenile dementia and cerebral amyloid angiopathy, can be caused by the same mutation in the APP gene.- - - - - - - - - - ranking = 5keywords = haemorrhage (Clic here for more details about this article) |
4/6. Non-hypertensive intracerebral haemorrhage: some interesting observations.hypertension is the commonest cause of intracerebral hemorrhage (ICH) but non-hypertensive intracerebral hemorrhages (NHICH) are not rare. We report three interesting cases of NHICH subsequent to amyloid angiopathy, alcoholic hepatitis and amphetamine abuse. They suggest the importance of recognizing these conditions and need for urgent specific therapy which may play a vital role in therapeutic planning and prevention of ICH.- - - - - - - - - - ranking = 4keywords = haemorrhage (Clic here for more details about this article) |
5/6. Spontaneous cerebral haemorrhage from cerebral amyloid angiopathy.Three cases of spontaneous intracerebral haemorrhage treated by acute evacuation of haematoma are described. All cases proved to have cerebral amyloid angiopathy as the primary cause of the haemorrhage. Only one patient survived. Previous reports are discussed.- - - - - - - - - - ranking = 6keywords = haemorrhage (Clic here for more details about this article) |
6/6. Amyloid angiopathy causing widespread miliary haemorrhages within the brain evident on MRI.The case of a 70-year-old woman with cerebral amyloid angiopathy (CAA) is presented. MRI of the head showed widespread miliary foci of haemorrhage within the cerebrum and cerebellum, with some additional linear lesions within the cerebral cortex and patchy lesions in the white matter. This is in contrast to the more usual pattern of intracranial haemorrhage in CAA, i.e., a lobar haematoma.- - - - - - - - - - ranking = 6keywords = haemorrhage (Clic here for more details about this article) |