A patient with early-onset SMAX3 and a novel variant of ATP7A

Moriei Shibuya, Hisao Yaoita, Kaori Kodama, Yukimune Okubo, Wakaba Endo, Takehiko Inui, Noriko Togashi, Jun Takayama, Gen Tamiya, Atsuo Kikuchi, Shigeo Kure, Kazuhiro Haginoya

研究成果: Article査読

抄録

Objective: To describe clinical and genetic studies on a patient with early-onset spinal muscular atrophyX3 (SMAX3) with novel variant of ATP7A. Methods: Clinical, neurophysiological, neuroimaging and pathological examinations were performed. Whole exome sequencing was applied to search genetic bases of this patient. Results: The patient had gait abnormality from early infantile period. Muscle imaging at 42 years old showed predominant involvement of proximal muscles as compared to the distal muscles. The patient had a novel variant of ATP7A, which was the fourth genotype of ATP7A exhibited as SMAX3. Contrary to previous reports of distal motor neuropathy, the clinical and neuroimaging findings in this case revealed dominant involvement in the proximal portion of the extremities and trunk, which is similar to patients with type III SMA. Conclusion: The dominant involvement of proximal motor system in this patient may expand the phenotypic variability of SMAX3. We need to be aware of this disorder in differential diagnosis of patients with type III SMA-like phenotype.

本文言語English
ページ(範囲)63-67
ページ数5
ジャーナルBrain and Development
44
1
DOI
出版ステータスPublished - 2022 1

ASJC Scopus subject areas

  • 小児科学、周産期医学および子どもの健康
  • 発達神経科学
  • 臨床神経学

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