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Article

Long-term follow-up of a patient with autosomal dominant lower extremity-predominant spinal muscular atrophy-2 due to a BICD2 variant.

Brain & development - 1 Sept 2022

Yamamoto Kosuke, Ohashi Kei, Fujimoto Masanori, Ieda Daisuke, Nakamura Yuji, Hattori Ayako, Kaname Tadashi, Ieda Kuniko, Nishino Ichizo, Saitoh Shinji

Abstract excerpt

INTRODUCTION: Bicaudal D homolog 2 (BICD2) is a causative gene of autosomal-dominant lower extremity-predominant spinal muscular atrophy-2 (SMA-LED2). The severity of SMA-LED2 varies widely, ranging from cases in which patients are able to walk to cases in which severe joint contractures lead to respiratory failure. In this study, we report the long-term course of a case of SMA-LED2 in comparison with previous...

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PMID: 35527075
DOI: 10.1016/j.braindev.2022.04.006

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