ADSSL1 myopathy is the most common nemaline myopathy in Japan with variable clinical features.

Adenylosuccinate Synthase / chemistry Adolescent Adult Aged Child Child, Preschool Female Genetic Variation / genetics Humans Japan / epidemiology Male Middle Aged Myopathies, Nemaline / diagnostic imaging Protein Structure, Secondary Young Adult

Journal

Neurology
ISSN: 1526-632X
Titre abrégé: Neurology
Pays: United States
ID NLM: 0401060

Informations de publication

Date de publication:
15 09 2020
Historique:
received: 14 11 2019
accepted: 17 03 2020
pubmed: 11 7 2020
medline: 5 11 2020
entrez: 11 7 2020
Statut: ppublish

Résumé

To elucidate the prevalence of Japanese ADSSL1 myopathy and determine the clinicopathologic features of the disease. We searched for We identified 63 patients from 59 families with biallelic variants of ADSSL1 myopathy is characterized by more variable manifestations than previously reported. It is the most common among all genetically diagnosable nemaline myopathies in our center, although mildly increased lipid droplets are also constantly observed features.

Identifiants

DOI: 10.1212/WNL.0000000000010237 PMID: 32646962
pubmed: 32646962
pii: WNL.0000000000010237
doi: 10.1212/WNL.0000000000010237
doi:

Substances chimiques

ADSS1 protein, human EC 6.3.4.4
Adenylosuccinate Synthase EC 6.3.4.4

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

e1500-e1511

Informations de copyright

© 2020 American Academy of Neurology.

Auteurs

Yoshihiko Saito (Y)

From the Department of Neuromuscular Research, National Institute of Neuroscience (Y.S., A.N., S.H., I. Nonaka, S. Noguchi and I. Nishino), Medical Genome Center (Y.S., A. Iida, S.H., S.N., I. Nishino), and Departments of Neurology (M.M.-Y., Y.O.) and Child Neurology (A. Ishiyama and H.K.), National Center Hospital, National Center of Neurology and Psychiatry (NCNP), Tokyo; Integrated Graduate School of Medicine, Engineering, and Agricultural Science (Y.S.), University of Yamanashi; Department of Neurology (S. Nakamura), National Hospital Organization, Shizuoka Medical Center; Department of Neurology and Clinical Neuroscience (S.F. and T.K.), Yamaguchi University Graduate School of Medical Science; Department of Neurology (M.Y. and H.S.), Osaka Toneyama Medical Center; and Department of Neurology (H.S.), Osaka University Graduate School of Medicine, Japan.

Atsuko Nishikawa (A)

From the Department of Neuromuscular Research, National Institute of Neuroscience (Y.S., A.N., S.H., I. Nonaka, S. Noguchi and I. Nishino), Medical Genome Center (Y.S., A. Iida, S.H., S.N., I. Nishino), and Departments of Neurology (M.M.-Y., Y.O.) and Child Neurology (A. Ishiyama and H.K.), National Center Hospital, National Center of Neurology and Psychiatry (NCNP), Tokyo; Integrated Graduate School of Medicine, Engineering, and Agricultural Science (Y.S.), University of Yamanashi; Department of Neurology (S. Nakamura), National Hospital Organization, Shizuoka Medical Center; Department of Neurology and Clinical Neuroscience (S.F. and T.K.), Yamaguchi University Graduate School of Medical Science; Department of Neurology (M.Y. and H.S.), Osaka Toneyama Medical Center; and Department of Neurology (H.S.), Osaka University Graduate School of Medicine, Japan.

Aritoshi Iida (A)

From the Department of Neuromuscular Research, National Institute of Neuroscience (Y.S., A.N., S.H., I. Nonaka, S. Noguchi and I. Nishino), Medical Genome Center (Y.S., A. Iida, S.H., S.N., I. Nishino), and Departments of Neurology (M.M.-Y., Y.O.) and Child Neurology (A. Ishiyama and H.K.), National Center Hospital, National Center of Neurology and Psychiatry (NCNP), Tokyo; Integrated Graduate School of Medicine, Engineering, and Agricultural Science (Y.S.), University of Yamanashi; Department of Neurology (S. Nakamura), National Hospital Organization, Shizuoka Medical Center; Department of Neurology and Clinical Neuroscience (S.F. and T.K.), Yamaguchi University Graduate School of Medical Science; Department of Neurology (M.Y. and H.S.), Osaka Toneyama Medical Center; and Department of Neurology (H.S.), Osaka University Graduate School of Medicine, Japan.
ORCID: 0000-0001-7538-1651

Madoka Mori-Yoshimura (M)

From the Department of Neuromuscular Research, National Institute of Neuroscience (Y.S., A.N., S.H., I. Nonaka, S. Noguchi and I. Nishino), Medical Genome Center (Y.S., A. Iida, S.H., S.N., I. Nishino), and Departments of Neurology (M.M.-Y., Y.O.) and Child Neurology (A. Ishiyama and H.K.), National Center Hospital, National Center of Neurology and Psychiatry (NCNP), Tokyo; Integrated Graduate School of Medicine, Engineering, and Agricultural Science (Y.S.), University of Yamanashi; Department of Neurology (S. Nakamura), National Hospital Organization, Shizuoka Medical Center; Department of Neurology and Clinical Neuroscience (S.F. and T.K.), Yamaguchi University Graduate School of Medical Science; Department of Neurology (M.Y. and H.S.), Osaka Toneyama Medical Center; and Department of Neurology (H.S.), Osaka University Graduate School of Medicine, Japan.

Yasushi Oya (Y)

From the Department of Neuromuscular Research, National Institute of Neuroscience (Y.S., A.N., S.H., I. Nonaka, S. Noguchi and I. Nishino), Medical Genome Center (Y.S., A. Iida, S.H., S.N., I. Nishino), and Departments of Neurology (M.M.-Y., Y.O.) and Child Neurology (A. Ishiyama and H.K.), National Center Hospital, National Center of Neurology and Psychiatry (NCNP), Tokyo; Integrated Graduate School of Medicine, Engineering, and Agricultural Science (Y.S.), University of Yamanashi; Department of Neurology (S. Nakamura), National Hospital Organization, Shizuoka Medical Center; Department of Neurology and Clinical Neuroscience (S.F. and T.K.), Yamaguchi University Graduate School of Medical Science; Department of Neurology (M.Y. and H.S.), Osaka Toneyama Medical Center; and Department of Neurology (H.S.), Osaka University Graduate School of Medicine, Japan.

Akihiko Ishiyama (A)

From the Department of Neuromuscular Research, National Institute of Neuroscience (Y.S., A.N., S.H., I. Nonaka, S. Noguchi and I. Nishino), Medical Genome Center (Y.S., A. Iida, S.H., S.N., I. Nishino), and Departments of Neurology (M.M.-Y., Y.O.) and Child Neurology (A. Ishiyama and H.K.), National Center Hospital, National Center of Neurology and Psychiatry (NCNP), Tokyo; Integrated Graduate School of Medicine, Engineering, and Agricultural Science (Y.S.), University of Yamanashi; Department of Neurology (S. Nakamura), National Hospital Organization, Shizuoka Medical Center; Department of Neurology and Clinical Neuroscience (S.F. and T.K.), Yamaguchi University Graduate School of Medical Science; Department of Neurology (M.Y. and H.S.), Osaka Toneyama Medical Center; and Department of Neurology (H.S.), Osaka University Graduate School of Medicine, Japan.

Hirofumi Komaki (H)

From the Department of Neuromuscular Research, National Institute of Neuroscience (Y.S., A.N., S.H., I. Nonaka, S. Noguchi and I. Nishino), Medical Genome Center (Y.S., A. Iida, S.H., S.N., I. Nishino), and Departments of Neurology (M.M.-Y., Y.O.) and Child Neurology (A. Ishiyama and H.K.), National Center Hospital, National Center of Neurology and Psychiatry (NCNP), Tokyo; Integrated Graduate School of Medicine, Engineering, and Agricultural Science (Y.S.), University of Yamanashi; Department of Neurology (S. Nakamura), National Hospital Organization, Shizuoka Medical Center; Department of Neurology and Clinical Neuroscience (S.F. and T.K.), Yamaguchi University Graduate School of Medical Science; Department of Neurology (M.Y. and H.S.), Osaka Toneyama Medical Center; and Department of Neurology (H.S.), Osaka University Graduate School of Medicine, Japan.

Seigo Nakamura (S)

From the Department of Neuromuscular Research, National Institute of Neuroscience (Y.S., A.N., S.H., I. Nonaka, S. Noguchi and I. Nishino), Medical Genome Center (Y.S., A. Iida, S.H., S.N., I. Nishino), and Departments of Neurology (M.M.-Y., Y.O.) and Child Neurology (A. Ishiyama and H.K.), National Center Hospital, National Center of Neurology and Psychiatry (NCNP), Tokyo; Integrated Graduate School of Medicine, Engineering, and Agricultural Science (Y.S.), University of Yamanashi; Department of Neurology (S. Nakamura), National Hospital Organization, Shizuoka Medical Center; Department of Neurology and Clinical Neuroscience (S.F. and T.K.), Yamaguchi University Graduate School of Medical Science; Department of Neurology (M.Y. and H.S.), Osaka Toneyama Medical Center; and Department of Neurology (H.S.), Osaka University Graduate School of Medicine, Japan.

Susumu Fujikawa (S)

From the Department of Neuromuscular Research, National Institute of Neuroscience (Y.S., A.N., S.H., I. Nonaka, S. Noguchi and I. Nishino), Medical Genome Center (Y.S., A. Iida, S.H., S.N., I. Nishino), and Departments of Neurology (M.M.-Y., Y.O.) and Child Neurology (A. Ishiyama and H.K.), National Center Hospital, National Center of Neurology and Psychiatry (NCNP), Tokyo; Integrated Graduate School of Medicine, Engineering, and Agricultural Science (Y.S.), University of Yamanashi; Department of Neurology (S. Nakamura), National Hospital Organization, Shizuoka Medical Center; Department of Neurology and Clinical Neuroscience (S.F. and T.K.), Yamaguchi University Graduate School of Medical Science; Department of Neurology (M.Y. and H.S.), Osaka Toneyama Medical Center; and Department of Neurology (H.S.), Osaka University Graduate School of Medicine, Japan.

Takashi Kanda (T)

From the Department of Neuromuscular Research, National Institute of Neuroscience (Y.S., A.N., S.H., I. Nonaka, S. Noguchi and I. Nishino), Medical Genome Center (Y.S., A. Iida, S.H., S.N., I. Nishino), and Departments of Neurology (M.M.-Y., Y.O.) and Child Neurology (A. Ishiyama and H.K.), National Center Hospital, National Center of Neurology and Psychiatry (NCNP), Tokyo; Integrated Graduate School of Medicine, Engineering, and Agricultural Science (Y.S.), University of Yamanashi; Department of Neurology (S. Nakamura), National Hospital Organization, Shizuoka Medical Center; Department of Neurology and Clinical Neuroscience (S.F. and T.K.), Yamaguchi University Graduate School of Medical Science; Department of Neurology (M.Y. and H.S.), Osaka Toneyama Medical Center; and Department of Neurology (H.S.), Osaka University Graduate School of Medicine, Japan.

Misaki Yamadera (M)

From the Department of Neuromuscular Research, National Institute of Neuroscience (Y.S., A.N., S.H., I. Nonaka, S. Noguchi and I. Nishino), Medical Genome Center (Y.S., A. Iida, S.H., S.N., I. Nishino), and Departments of Neurology (M.M.-Y., Y.O.) and Child Neurology (A. Ishiyama and H.K.), National Center Hospital, National Center of Neurology and Psychiatry (NCNP), Tokyo; Integrated Graduate School of Medicine, Engineering, and Agricultural Science (Y.S.), University of Yamanashi; Department of Neurology (S. Nakamura), National Hospital Organization, Shizuoka Medical Center; Department of Neurology and Clinical Neuroscience (S.F. and T.K.), Yamaguchi University Graduate School of Medical Science; Department of Neurology (M.Y. and H.S.), Osaka Toneyama Medical Center; and Department of Neurology (H.S.), Osaka University Graduate School of Medicine, Japan.

Hiroshi Sakiyama (H)

From the Department of Neuromuscular Research, National Institute of Neuroscience (Y.S., A.N., S.H., I. Nonaka, S. Noguchi and I. Nishino), Medical Genome Center (Y.S., A. Iida, S.H., S.N., I. Nishino), and Departments of Neurology (M.M.-Y., Y.O.) and Child Neurology (A. Ishiyama and H.K.), National Center Hospital, National Center of Neurology and Psychiatry (NCNP), Tokyo; Integrated Graduate School of Medicine, Engineering, and Agricultural Science (Y.S.), University of Yamanashi; Department of Neurology (S. Nakamura), National Hospital Organization, Shizuoka Medical Center; Department of Neurology and Clinical Neuroscience (S.F. and T.K.), Yamaguchi University Graduate School of Medical Science; Department of Neurology (M.Y. and H.S.), Osaka Toneyama Medical Center; and Department of Neurology (H.S.), Osaka University Graduate School of Medicine, Japan.

Shinichiro Hayashi (S)

From the Department of Neuromuscular Research, National Institute of Neuroscience (Y.S., A.N., S.H., I. Nonaka, S. Noguchi and I. Nishino), Medical Genome Center (Y.S., A. Iida, S.H., S.N., I. Nishino), and Departments of Neurology (M.M.-Y., Y.O.) and Child Neurology (A. Ishiyama and H.K.), National Center Hospital, National Center of Neurology and Psychiatry (NCNP), Tokyo; Integrated Graduate School of Medicine, Engineering, and Agricultural Science (Y.S.), University of Yamanashi; Department of Neurology (S. Nakamura), National Hospital Organization, Shizuoka Medical Center; Department of Neurology and Clinical Neuroscience (S.F. and T.K.), Yamaguchi University Graduate School of Medical Science; Department of Neurology (M.Y. and H.S.), Osaka Toneyama Medical Center; and Department of Neurology (H.S.), Osaka University Graduate School of Medicine, Japan.

Ikuya Nonaka (I)

From the Department of Neuromuscular Research, National Institute of Neuroscience (Y.S., A.N., S.H., I. Nonaka, S. Noguchi and I. Nishino), Medical Genome Center (Y.S., A. Iida, S.H., S.N., I. Nishino), and Departments of Neurology (M.M.-Y., Y.O.) and Child Neurology (A. Ishiyama and H.K.), National Center Hospital, National Center of Neurology and Psychiatry (NCNP), Tokyo; Integrated Graduate School of Medicine, Engineering, and Agricultural Science (Y.S.), University of Yamanashi; Department of Neurology (S. Nakamura), National Hospital Organization, Shizuoka Medical Center; Department of Neurology and Clinical Neuroscience (S.F. and T.K.), Yamaguchi University Graduate School of Medical Science; Department of Neurology (M.Y. and H.S.), Osaka Toneyama Medical Center; and Department of Neurology (H.S.), Osaka University Graduate School of Medicine, Japan.

Satoru Noguchi (S)

From the Department of Neuromuscular Research, National Institute of Neuroscience (Y.S., A.N., S.H., I. Nonaka, S. Noguchi and I. Nishino), Medical Genome Center (Y.S., A. Iida, S.H., S.N., I. Nishino), and Departments of Neurology (M.M.-Y., Y.O.) and Child Neurology (A. Ishiyama and H.K.), National Center Hospital, National Center of Neurology and Psychiatry (NCNP), Tokyo; Integrated Graduate School of Medicine, Engineering, and Agricultural Science (Y.S.), University of Yamanashi; Department of Neurology (S. Nakamura), National Hospital Organization, Shizuoka Medical Center; Department of Neurology and Clinical Neuroscience (S.F. and T.K.), Yamaguchi University Graduate School of Medical Science; Department of Neurology (M.Y. and H.S.), Osaka Toneyama Medical Center; and Department of Neurology (H.S.), Osaka University Graduate School of Medicine, Japan. noguchi@ncnp.go.jp.

Ichizo Nishino (I)

From the Department of Neuromuscular Research, National Institute of Neuroscience (Y.S., A.N., S.H., I. Nonaka, S. Noguchi and I. Nishino), Medical Genome Center (Y.S., A. Iida, S.H., S.N., I. Nishino), and Departments of Neurology (M.M.-Y., Y.O.) and Child Neurology (A. Ishiyama and H.K.), National Center Hospital, National Center of Neurology and Psychiatry (NCNP), Tokyo; Integrated Graduate School of Medicine, Engineering, and Agricultural Science (Y.S.), University of Yamanashi; Department of Neurology (S. Nakamura), National Hospital Organization, Shizuoka Medical Center; Department of Neurology and Clinical Neuroscience (S.F. and T.K.), Yamaguchi University Graduate School of Medical Science; Department of Neurology (M.Y. and H.S.), Osaka Toneyama Medical Center; and Department of Neurology (H.S.), Osaka University Graduate School of Medicine, Japan.
ORCID: 0000-0001-9452-112X

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Classifications MeSH

questionsmedicales.fr › Enzymes et coenzymes › Enzymes › Ligases › Carbon-nitrogen ligases › Adenylosuccinate synthase › ADSSL1 myopathy is the most common nemaline...
questionsmedicales.fr › Personnes › Tranches d'âge › Adolescent › ADSSL1 myopathy is the most common nemaline...
questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › ADSSL1 myopathy is the most common nemaline...
questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › Sujet âgé › ADSSL1 myopathy is the most common nemaline...
questionsmedicales.fr › Personnes › Tranches d'âge › Enfant › ADSSL1 myopathy is the most common nemaline...
questionsmedicales.fr › Personnes › Tranches d'âge › Enfant › Enfant d'âge préscolaire › ADSSL1 myopathy is the most common nemaline...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › ADSSL1 myopathy is the most common nemaline...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › ADSSL1 myopathy is the most common nemaline...
questionsmedicales.fr › Régions géographiques › Iles › Japon › ADSSL1 myopathy is the most common nemaline...
questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › Adulte d'âge moyen › ADSSL1 myopathy is the most common nemaline...
questionsmedicales.fr › Maladies du système nerveux › Maladies neuromusculaires › Maladies musculaires › Myopathies congénitales structurales › Myopathies némaline › ADSSL1 myopathy is the most common nemaline...
questionsmedicales.fr › Phénomènes chimiques › Phénomènes biochimiques › Conformation moléculaire › Conformation des protéines › Structure secondaire des protéines › ADSSL1 myopathy is the most common nemaline...
questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › Jeune adulte › ADSSL1 myopathy is the most common nemaline...