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Visualization of Amyloid β Deposits in the Human Brain with Matrix-assisted Laser Desorption/Ionization Imaging Mass Spectrometry
Published on: March 7, 2019
[Cerebral amyloid angiopathy, recurrent intracerebral haemorrhages and Down's syndrome]
J Romero López1, E Rivas Infante, J L Maciñeiras Montero
1Sección de Neurología, Hospital do Meixoeiro, Vigo. jesús.romero.lópez@sergas.es
Insights
Middle-age individuals with Down's syndrome can develop Alzheimer's-like dementia. Autopsy confirmed cerebral amyloid angiopathy (CAA) and Alzheimer's pathology in a patient with recurrent hemorrhages.
Area of Science:
- Neuropathology
- Genetics
- Geriatrics
Background:
- Down's syndrome is associated with an increased risk of Alzheimer's disease.
- Cerebral amyloid angiopathy (CAA) is a common finding in Alzheimer's disease and can cause recurrent intracerebral hemorrhage.
- The relationship between Down's syndrome, CAA, and Alzheimer's disease requires further investigation.
Observation:
- The study presents a case of a middle-aged male with Down's syndrome experiencing recurrent lobar intracerebral hemorrhage.
- Autopsy revealed characteristic lesions of CAA in cerebral arteries.
- Alzheimer's disease pathology, primarily in the entorhinal cortex and hippocampus, was also identified.
Findings:
- The case demonstrates a co-occurrence of cerebral amyloid angiopathy and Alzheimer's disease pathology in a patient with Down's syndrome.
- This finding supports a potential link between these conditions.
- The study highlights the need for anatomical-pathological confirmation for definitive CAA diagnosis.
Implications:
- Understanding the interplay between Down's syndrome, beta-amyloid protein, apolipoprotein alleles, CAA, and Alzheimer's disease is crucial.
- This research may inform diagnostic and therapeutic strategies for dementia in Down's syndrome.
- Further studies are warranted to elucidate the precise pathological mechanisms involved.
Abstract:
Middle-age Down's syndrome patients develop dementia with antomicopathological changes that are characteristic for Alzheimer's disease. Cerebral amyolid angiopathy (CAA) most commonly manifests itself as a lobar intracerebral haemorrhage that tends to recur. Multiple haemorrhages may occur simultaneously. CAA is frequently associated with Alzheimer's disease, however the relationship between CCA and Down's syndrome is poorly know. Although there are established clinical criteria for the diagnosis of CAA related to lobar intracerebral haemorrhage, definitive CAA needs anatomicopathologial confirmation. This paper presents the case of a male with Down's syndrome and recurrent lobar intracerebral haemorrhage. An autopsy showed lesions in leptomeningeal and cortical arteries which are characteristic of CAA in addition to anatomicopathological changes of Alzheimer s disease that were mostly seen in entorhinal cortex and hippocampus. The paper also discusses the pathological association between beta-amyloid protein, apolipoprotein alleles, CAA, Alzheimer's disease and Down's syndrome.
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