We report the case of a 47-year-old woman with a 4-year history of progressive numbness in the distal portions of both her lower limbs, diarrhea alternating with periods of constipation, and orthostatic syncope. She demonstrated sensory dominant neuropathy and dysautonomia including orthostatic hypotension, paralytic ileus, and urinary retention. A systemic mutation analysis revealed a G47R mutation in transthyretin (TTR). Her general condition was so poor that we could not perform active treatment. Her consciousness had been impaired for a few months. She died at the age of 47 due to multiple organ failure. An autopsy revealed amyloid deposits in the subarachnoid space of the brainstem and the spinal cord as well as in the peripheral nerve and other organs. To date, this is the first case in which a G47R mutation is associated with leptomeningeal amyloidosis.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.5692/clinicalneurol.cn-000911 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Deciphering the role of APOE in cerebral amyloid angiopathy: from genetic insights to therapeutic horizons.
Ann Med
December 2025
Department of Neurology, Tianjin Neurological Institute, Tianjin Medical University General Hospital, Tianjin, China.
Cerebral amyloid angiopathy (CAA), characterized by the deposition of amyloid-β (Aβ) peptides in the walls of medium and small vessels of the brain and leptomeninges, is a major cause of lobar hemorrhage in elderly individuals. Among the genetic risk factors for CAA that continue to be recognized, the apolipoprotein E (APOE) gene is the most significant and prevalent, as its variants have been implicated in more than half of all patients with CAA. While the presence of the APOE ε4 allele markedly increases the risk of CAA, the ε2 allele confers a protective effect relative to the common ε3 allele.
View Article and Find Full Text PDFPathogenesis, manifestations, diagnosis, and management of CNS complications in hereditary ATTR amyloidosis.
Amyloid
December 2024
Unidade Corino de Andrade, Centro Hospitalar Universitário de Santo António, Porto, Portugal.
The clinical efficacy of transthyretin (TTR) tetramer stabilisers and gene silencers in addition to liver transplantation has been established for hereditary ATTR (ATTRv) amyloidosis. Accordingly, non-central nervous system (CNS) systemic amyloidosis manifestations, such as peripheral neuropathy and cardiomyopathy, are now being overcome. However, emerging disease-modifying therapeutics have limited effects on CNS amyloidosis since they target the blood-circulating TTR produced in the liver, and not the cerebral spinal fluid (CSF) TTR synthesised in the choroid plexus.
View Article and Find Full Text PDFNeuroradiological Findings in Cerebral Amyloid Angiopathy with a Particular Consideration of the Boston Criteria 2.0: An Imaging Review.
Biomolecules
November 2024
Department of Neurology, University Medical Centre Schleswig-Holstein, Campus Kiel, 24105 Kiel, Germany.
In the elderly, cerebral amyloid angiopathy (CAA) is the most common cause for intracranial lobar hemorrhages. CAA is caused by the accumulation of amyloid-β fibrils in cortical and leptomeningeal vessels. In 2022, the Boston Criteria 2.
View Article and Find Full Text PDFTTR associated leptomeningeal amyloidosis in a Sri Lankan patient.
J Neurol Sci
November 2024
National Hospital for Neurology & Neurosurgery, Queen Square, London, UK; UCLH NIHR Biomedical Research Centre, London, UK.
Objectives: This case report aims to contribute to the expanding genotypic-phenotypic spectrum of TTR associated leptomeningeal amyloidosis.
Methods: Neuroimaging and targeted TTR Sanger sequencing were performed on a 52-year-old female presenting with cognitive and motor symptoms.
Results: The proband, a Sri Lankan woman, presented with a gradually progressive cognitive decline, followed by a rapid deterioration in motor function and level of consciousness.
Beta-Amyloid Related Neurodegenerative and Neurovascular Diseases: Potential Implications for Transfusion Medicine.
Transfus Med Rev
October 2024
Calgary Stroke Program, Department of Clinical Neurosciences, Calgary, Alberta, Canada; Hotchkiss Brain Institute, Calgary, Alberta, Canada; Department of Community Health Sciences, University of Calgary, Calgary, Alberta, Canada. Electronic address:
Article Synopsis
- Cerebral amyloid angiopathy (CAA) is a brain disorder caused by the accumulation of beta-amyloid in small blood vessels, leading to increased risk of bleeding in the brain and associated neurocognitive decline.
- It often appears with age, frequently coexists with Alzheimer's Disease, and can result in significant health issues like spontaneous intracerebral hemorrhage and progressive dementia.
- Recent studies suggest a potential link between blood transfusions and the transmission of CAA, raising concerns about public health and the need for further research on whether CAA can be transmitted through blood, alongside its implications for screening practices.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!