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Neurology Genetics
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August 2015; 1 (2) ArticleOpen Access

Tongue atrophy and fasciculations in transthyretin familial amyloid neuropathy

An ALS mimicker

Namita A. Goyal, Tahseen Mozaffar
First published July 30, 2015, DOI: https://doi.org/10.1212/NXG.0000000000000018
Namita A. Goyal
From the Department of Neurology (N.A.G., T.M.) and Department of Orthopaedic Surgery (T.M.), University of California, Irvine.
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Tahseen Mozaffar
From the Department of Neurology (N.A.G., T.M.) and Department of Orthopaedic Surgery (T.M.), University of California, Irvine.
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Tongue atrophy and fasciculations in transthyretin familial amyloid neuropathy
An ALS mimicker
Namita A. Goyal, Tahseen Mozaffar
Neurol Genet Aug 2015, 1 (2) e18; DOI: 10.1212/NXG.0000000000000018

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    Figure Tongue atrophy due to transthyretin-related familial amyloid polyneuropathy mimicking amyotrophic lateral sclerosis

    (A) Marked tongue atrophy—note the furrowing of the lateral aspects of the tongue. Marked fasciculations were noted on examination along with muscle weakness (not shown). (B) A photomicrograph of a minor salivary gland biopsy showing an immunoperoxidase staining for transthyretin (TTR) (dark brown). Diffuse deposition of TTR-positive amyloid is seen in these glands. The patient did not meet inclusion criteria for the ongoing antisense oligonucleotide trial in familial amyloid polyneuropathy secondary to markedly abnormal neuropathy impairment score.

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