Spinal Stenosis in Familial Transthyretin Amyloidosis
Autor: | Julian Blake, Janet A. Gilbertson, D Choi, S Shah, R.S. Phadke, Aisling Carr, Ashutosh D. Wechalekar, Philip N. Hawkins, Carol J. Whelan, Mary M. Reilly, Julian D. Gillmore |
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Rok vydání: | 2019 |
Předmět: |
Adult
musculoskeletal diseases 0301 basic medicine medicine.medical_specialty Spinal stenosis Cauda equina syndrome Disease 03 medical and health sciences Spinal Stenosis 0302 clinical medicine Humans Medicine Family history Amyloid Neuropathies Familial biology business.industry Amyloidosis Lumbosacral Region Lumbar spinal stenosis Middle Aged medicine.disease Carpal Tunnel Syndrome Dermatology Amyloid Neuropathy Transthyretin 030104 developmental biology Neurology biology.protein Female Neurology (clinical) business 030217 neurology & neurosurgery |
Zdroj: | Journal of Neuromuscular Diseases. 6:267-270 |
ISSN: | 2214-3602 2214-3599 |
Popis: | Here we describe a patient with genetically confirmed ATTR, a family history of the disease and histological confirmation following carpal tunnel release surgery but no other manifestations. The first major neurological or systemic manifestation was cauda equina syndrome with ATTR deposits contributing to lumbar spinal stenosis. Recent gene therapy trials showed improvement in the neuropathy in TTR amyloidosis. This case highlights the need for awareness of the heterogeneous neurological phenotype seen in ATTR to aid earlier diagnosis especially now that disease modifying therapies are available. |
Databáze: | OpenAIRE |
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