SOD1-Related Cerebellar Ataxia and Motor Neuron Disease: Cp Variant as Functional Modifier?

Marsili, Luca; Davis, Jennie L; Espay, Alberto J; Gilthorpe, Jonathan; Williams, Chloe; Kauffman, Marcelo A; Porollo, Aleksey

Marsili, Luca; Davis, Jennie L; Espay, Alberto J; Gilthorpe, Jonathan; Williams, Chloe; Kauffman, Marcelo A; Porollo, Aleksey.

Afiliação

Marsili L; James J. and Joan A. Gardner Center for Parkinson's Disease and Movement Disorders, Department of Neurology, University of Cincinnati, OH, Cincinnati, USA. luca.marsili@uc.edu.
Davis JL; Valley Neuroscience Institute, University of Washington-Valley Medical Center, Renton, WA, USA.
Espay AJ; James J. and Joan A. Gardner Center for Parkinson's Disease and Movement Disorders, Department of Neurology, University of Cincinnati, OH, Cincinnati, USA.
Gilthorpe J; Department of Integrative Medical Biology, Umeå University, Umeå, Sweden.
Williams C; Department of Integrative Medical Biology, Umeå University, Umeå, Sweden.
Kauffman MA; Consultorio Y Laboratorio de Neurogenética, Centro Universitario de Neurología José María Ramos Mejía, Buenos Aires, Argentina.
Porollo A; Center for Autoimmune Genomics and Etiology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.

Cerebellum ; 23(1): 205-209, 2024 Feb.

Article em En | MEDLINE | ID: mdl-36757662

ABSTRACT

ABSTRACT

We describe a novel superoxide dismutase (SOD1) mutation-associated clinical phenotype of cerebellar ataxia and motor neuron disease with a variant in the ceruloplasmin (Cp) gene, which may have possibly contributed to a multi-factorial phenotype, supported by genetic and protein structure analyses.

Assuntos

Esclerose Lateral Amiotrófica; Ataxia Cerebelar; Doença dos Neurônios Motores; Humanos; Esclerose Lateral Amiotrófica/genética; Ataxia Cerebelar/genética; Ceruloplasmina/genética; Ceruloplasmina/metabolismo; Doença dos Neurônios Motores/genética; Mutação/genética; Superóxido Dismutase/genética; Superóxido Dismutase/metabolismo; Superóxido Dismutase-1/genética; Superóxido Dismutase-1/metabolismo

Palavras-chave

Amyotrophic lateral sclerosis; Cerebellar ataxia; Ceruloplasmin; Neurodegeneration; SOD1

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Ataxia Cerebelar / Doença dos Neurônios Motores / Esclerose Lateral Amiotrófica Limite: Humans Idioma: En Revista: Cerebellum Ano de publicação: 2024 Tipo de documento: Article

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