A juvenile sporadic amyotrophic lateral sclerosis case with P525L mutation in the FUS gene: A rare co-occurrence of autism spectrum disorder and tremor.

Eura, Nobuyuki; Sugie, Kazuma; Suzuki, Naoki; Kiriyama, Takao; Izumi, Tesseki; Shimakura, Naoko; Kato, Masaaki; Aoki, Masashi

Eura, Nobuyuki; Sugie, Kazuma; Suzuki, Naoki; Kiriyama, Takao; Izumi, Tesseki; Shimakura, Naoko; Kato, Masaaki; Aoki, Masashi.

Afiliação

Eura N; Department of Neurology, Nara Medical University School of Medicine, Kashihara, Nara, Japan. Electronic address: neura@naramed-u.ac.jp.
Sugie K; Department of Neurology, Nara Medical University School of Medicine, Kashihara, Nara, Japan. Electronic address: ksugie@naramed-u.ac.jp.
Suzuki N; Department of Neurology, Tohoku University, Sendai, Miyagi, Japan. Electronic address: naoki@med.tohoku.ac.jp.
Kiriyama T; Department of Neurology, Nara Medical University School of Medicine, Kashihara, Nara, Japan. Electronic address: kiri@naramed-u.ac.jp.
Izumi T; Department of Neurology, Nara Medical University School of Medicine, Kashihara, Nara, Japan. Electronic address: izumitesseki@naramed-u.ac.jp.
Shimakura N; Department of Neurology, Tohoku University, Sendai, Miyagi, Japan. Electronic address: naoko.shimakura@neurol.med.tohoku.ac.jp.
Kato M; Department of Neurology, Tohoku University, Sendai, Miyagi, Japan. Electronic address: katom@mui.biglobe.ne.jp.
Aoki M; Department of Neurology, Tohoku University, Sendai, Miyagi, Japan. Electronic address: aokim@med.tohoku.ac.jp.

J Neurol Sci ; 398: 67-68, 2019 Mar 15.

Article em En | MEDLINE | ID: mdl-30684766

Assuntos

Esclerose Lateral Amiotrófica/genética; Transtorno do Espectro Autista/genética; Mutação/genética; Proteína FUS de Ligação a RNA/genética; Tremor/genética; Esclerose Lateral Amiotrófica/complicações; Esclerose Lateral Amiotrófica/diagnóstico; Transtorno do Espectro Autista/complicações; Transtorno do Espectro Autista/diagnóstico; Feminino; Humanos; Tremor/complicações; Tremor/diagnóstico; Adulto Jovem

Palavras-chave

ALS; Autism spectrum disorder; FUS; Fused in sarcoma; Juvenile amyotrophic lateral sclerosis; P525L mutation; Tremor

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Tremor / Proteína FUS de Ligação a RNA / Transtorno do Espectro Autista / Esclerose Lateral Amiotrófica / Mutação Tipo de estudo: Diagnostic_studies Limite: Adult / Female / Humans Idioma: En Revista: J Neurol Sci Ano de publicação: 2019 Tipo de documento: Article

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