Affiliations: [a] Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, London, UK
| [b] Department of Neuroradiology, National Hospital of Neurology and Neurosurgery, Queen Square, London, UK
| [c] Department of Neurosurgery, National Hospital of Neurology and Neurosurgery, Queen Square, London, UK
| [d] Department of Clinical Neurophysiology, Norfolk and Norwich University Hospital, Norwich UK | [e] Department of Neuropathology, National Hospital of Neurology and Neurosurgery, Queen Square, London, UK
| [f] National Amyloidosis Centre, Royal Free Hospital, Rowland Hill Street, London, UK
Correspondence to: Professor Mary M. Reilly, MD FRCP FRCPI, Professor of Clinical Neurology and Consultant Neurologist, Head of Division of Clinical Neurology, Institute of Neurology, MRC Centre for Neuromuscular Diseases, National Hospital for Neurology and Neurosurgery and UCL Institute of Neurology, Box 108, Queen Square, London WC1 N 3BG, UK. Tel.: +00 44 0 845 155 5000 /Ext. 88457; Fax: +00 44 0 20 3448 3633;E-mail: [email protected].
Abstract: 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.
Keywords: Transthyretin amyloidosis, amyloid neuropathy, spinal surgery