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Transthyretin Amyloidosis Presenting With Upper-Extremity Neuropathy and Paucity of Autonomic Impairment

Devarapalli, Sandeep, MD*; Zhou, Daniel J.*; Dyck, P. James B., MD; Piccione, Ezequiel A., MD*

Journal of Clinical Neuromuscular Disease: June 2019 - Volume 20 - Issue 4 - p 207–209
doi: 10.1097/CND.0000000000000238
Short Report

We report a 73-year-old man with Val142Ile transthyretin (TTR) amyloidosis and an atypical clinical presentation of upper-extremity–predominant neuropathy without significant autonomic or cardiac involvement. TTR familial amyloid polyneuropathy commonly presents as length-dependent sensorimotor polyneuropathy with marked and early autonomic involvement. Multiple pathogenic mutations in TTR gene have been identified, of which Val50Met is commonly associated with TTR familial amyloid polyneuropathy, and Val142Ile is commonly associated with familial amyloid cardiomyopathy. Our patient is from a nonendemic region, without family history for amyloidosis. Predominant upper-extremity neuropathy, without significant cardiac or autonomic involvement, distinguishes this case from previously reported Val142Ile-mutated TTR amyloidosis.

*Department of Neurological Sciences, University of Nebraska Medical Center and School of Medicine, Omaha, NE; and

Department of Neurology, Mayo Clinic, Rochester, MN.

Reprints: Ezequiel A. Piccione, MD, Department of Neurology, University of Nebraska Medical Center, 988435 Nebraska Medical Center, Omaha, NE 68198-8440 (e-mail:

The authors report no conflicts of interest.

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