A case of a familial amyloid polyneuropathy presenting with restless legs syndrome as initial symptom

doi:10.16138/j.1673-6087.2025.05.07

Journal of Internal Medicine Concepts & Practice ›› 2025, Vol. 20 ›› Issue (05): 385-387.doi: 10.16138/j.1673-6087.2025.05.07

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A case of a familial amyloid polyneuropathy presenting with restless legs syndrome as initial symptom

LIU Xixi¹^,^2a(), LI Gen^2b, MA Jianfang^2a()

1. Department of Encephalopathy, Yichun Hospital of Traditional Chinese Medicine, Yichun 336000, China
2. a. Department of Neurology; b. Department of Geriatrics, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200025, China

Received:2024-09-19 Online:2025-12-10 Published:2025-12-26
Contact: MA Jianfang E-mail:122020807@qq.com;mjf10924@rjh.com.cn

Abstract

Abstract:

Restless legs syndrome (RLS) is a neurological disorder characterized by discomfortable sensations in the lower limbs during sleep. It is often idiopathic, but can also be secondary to various diseases such as peripheral neuropathy. Familial amyloid polyneuropathy (FAP) is an autosomal dominant genetic disorder, and as a rare cause, its early RLS-like manifestations are easily overlooked. This article reports a case of FAP presenting with RLS as initial symptom, and genetic testing shows aTTR gene Y114C mutation. It introduces the diagnosis, treatment and follow-up of the case, and discusses the clinical features based on relevant literature, aiming to remind clinicians to perform genetic screening for FAP in RLS patients with a clear family history and concomitant peripheral neuropathy.

Key words: Restless legs syndrome, Familial amyloid polyneuropathy, Transthyretin

CLC Number:

R745

LIU Xixi, LI Gen, MA Jianfang. A case of a familial amyloid polyneuropathy presenting with restless legs syndrome as initial symptom[J]. Journal of Internal Medicine Concepts & Practice, 2025, 20(05): 385-387.

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A case of a familial amyloid polyneuropathy presenting with restless legs syndrome as initial symptom

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