SPG11 presenting with dystonic tremor in childhood.

Innes, Emily A; Goetti, Robert; Mahant, Neil; Ho, Gladys; Williams, Laura; Gill, Deepak; Dale, Russell C; Mohammad, Shekeeb S

Innes, Emily A; Goetti, Robert; Mahant, Neil; Ho, Gladys; Williams, Laura; Gill, Deepak; Dale, Russell C; Mohammad, Shekeeb S.

Afiliação

Innes EA; TY Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, NSW, Sydney, Australia; School of Medicine Sydney, The University of Notre Dame, Sydney, Australia. Electronic address: shekeeb.mohammad@health.nsw.gov.au.
Goetti R; Medical Imaging, The Children's Hospital at Westmead, Australia; Sydney Genome Diagnostics, Western Sydney Genetics Program, The Children's Hospital at Westmead, NSW, Sydney, Australia.
Mahant N; Movement Disorders Unit, Neurology Department, Westmead Hospital, Westmead, New South Wales, Australia.
Ho G; Sydney Genome Diagnostics, Western Sydney Genetics Program, The Children's Hospital at Westmead, NSW, Sydney, Australia; Sydney Medical School, Faculty of Medicine and Health, University of Sydney, Sydney, Australia.
Williams L; Movement Disorders Unit, Neurology Department, Westmead Hospital, Westmead, New South Wales, Australia.
Gill D; TY Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, NSW, Sydney, Australia; Kids Neuroscience Centre, The Children's Hospital at Westmead, NSW, Sydney, Australia.
Dale RC; Kids Neuroscience Centre, The Children's Hospital at Westmead, NSW, Sydney, Australia; Sydney Medical School, Faculty of Medicine and Health, University of Sydney, Sydney, Australia.
Mohammad SS; TY Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, NSW, Sydney, Australia; Kids Neuroscience Centre, The Children's Hospital at Westmead, NSW, Sydney, Australia; Sydney Medical School, Faculty of Medicine and Health, University of Sydney, Sydney, Australia.

Parkinsonism Relat Disord ; 99: 76-78, 2022 06.

Article em En | MEDLINE | ID: mdl-35617747

ABSTRACT

ABSTRACT

This is a unique case of SPG11 mutation presenting as childhood onset dystonic tremor without weakness or spastic paraplegia. Hereditary spastic paraplegia is the most common phenotype of SPG11 mutation though there are reports of an extended phenotype of SPG11 including dopa-responsive dystonia and tremor.

Assuntos

Paraplegia Espástica Hereditária; Humanos; Mutação/genética; Fenótipo; Proteínas/genética; Paraplegia Espástica Hereditária/diagnóstico; Paraplegia Espástica Hereditária/genética; Tremor/etiologia; Tremor/genética

Palavras-chave

Dystonia; HSP; SPG11; Tremor

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Paraplegia Espástica Hereditária Tipo de estudo: Diagnostic_studies / Etiology_studies Limite: Humans Idioma: En Revista: Parkinsonism Relat Disord Assunto da revista: NEUROLOGIA Ano de publicação: 2022 Tipo de documento: Article

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