TY - JOUR
T1 - A patient with early-onset SMAX3 and a novel variant of ATP7A
AU - Shibuya, Moriei
AU - Yaoita, Hisao
AU - Kodama, Kaori
AU - Okubo, Yukimune
AU - Endo, Wakaba
AU - Inui, Takehiko
AU - Togashi, Noriko
AU - Takayama, Jun
AU - Tamiya, Gen
AU - Kikuchi, Atsuo
AU - Kure, Shigeo
AU - Haginoya, Kazuhiro
N1 - Funding Information:
We thank the patient and his family for their participation in this study. We also thank Yoko Chiba and Kumi Ito for providing technical assistance. We also acknowledge the support from the Biomedical Research Core of the Tohoku University Graduate School of Medicine.
Funding Information:
This research was supported by the Japanese Agency for Medical Research and Development (AMED) through grant number JP17ek0109151 (Initiative on Rare and Undiagnosed Diseases [IRUD] to S.K.).
Publisher Copyright:
© 2021 The Japanese Society of Child Neurology
PY - 2022/1
Y1 - 2022/1
N2 - 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.
AB - 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.
KW - ATP7A
KW - Motor neuron disease
KW - SMAX3
KW - Type III SMA
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U2 - 10.1016/j.braindev.2021.08.004
DO - 10.1016/j.braindev.2021.08.004
M3 - Article
C2 - 34456088
AN - SCOPUS:85114722451
SN - 0387-7604
VL - 44
SP - 63
EP - 67
JO - Brain and Development
JF - Brain and Development
IS - 1
ER -