Title |
Hereditary gelsolin amyloidosis: a rare cause of cranial, peripheral and autonomic neuropathies linked to D187N and Y447H substitutions
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Published in |
Amyloid, May 2023
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DOI | 10.1080/13506129.2023.2204999 |
Pubmed ID | |
Authors |
Lisa Mendelson, Tatiana Prokaeva, K. H. Vincent Lau, Vaishali Sanchorawala, Kristen McCausland, Brian Spencer, Surendra Dasari, Ellen D. McPhail, Michelle C. Kaku |
Abstract |
Hereditary gelsolin (AGel) amyloidosis is a systemic disease that is characterised by neurologic, ophthalmologic, dermatologic, and other organ involvements. We describe the clinical features with a focus on neurological manifestations in a cohort of patients with AGel amyloidosis referred to the Amyloidosis Centre in the United States. Fifteen patients with AGel amyloidosis were included in the study between 2005 and 2022 with the permission of the Institutional Review Board. Data were collected from the prospectively maintained clinical database, electronic medical records and telephone interviews. Neurologic manifestations were featured in 15 patients: cranial neuropathy in 93%, peripheral and autonomic neuropathy in 57% and bilateral carpal tunnel syndrome in 73% of cases. A novel p.Y474H gelsolin variant featured a unique clinical phenotype that differed from the one associated with the most common variant of AGel amyloidosis. We report high rates of cranial and peripheral neuropathy, carpal tunnel syndrome and autonomic dysfunction in patients with systemic AGel amyloidosis. The awareness of these features will enable earlier diagnosis and timely screening for end-organ dysfunction. The characterisation of pathophysiology will assist the development of therapeutic options in AGel amyloidosis. |
X Demographics
Geographical breakdown
Country | Count | As % |
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United States | 12 | 63% |
Australia | 1 | 5% |
United Kingdom | 1 | 5% |
Unknown | 5 | 26% |
Demographic breakdown
Type | Count | As % |
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Members of the public | 9 | 47% |
Scientists | 6 | 32% |
Practitioners (doctors, other healthcare professionals) | 2 | 11% |
Science communicators (journalists, bloggers, editors) | 2 | 11% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 2 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
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Researcher | 1 | 50% |
Student > Master | 1 | 50% |
Readers by discipline | Count | As % |
---|---|---|
Biochemistry, Genetics and Molecular Biology | 1 | 50% |
Agricultural and Biological Sciences | 1 | 50% |