Dataciencia

Colección SciELO Chile

Heterozygous pathogenic variant in <i>GCH1</i> associated with treatable severe spastic tetraplegia: Expert opinion

Indexado

WoS	WOS:000968698500001
Scopus	SCOPUS_ID:85150346059

DOI

10.1016/J.PARKRELDIS.2023.105370

Año

2023

Tipo

material editorial

Citas Totales

Autores Afiliación Chile

Instituciones Chile

% Participación
Internacional

Autores
Afiliación Extranjera

Instituciones
Extranjeras

Revista

Revista	ISSN
Parkinsonism & Related Disorders	1353-8020

Métricas Externas

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Disciplinas de Investigación

WOS
Clinical Neurology

Scopus
Neurology (Clinical)
Neurology
Geriatrics And Gerontology

SciELO
Sin Disciplinas

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Publicaciones WoS (Ediciones: ISSHP, ISTP, AHCI, SSCI, SCI), Scopus, SciELO Chile.

Colaboración Institucional

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Autores - Afiliación

Ord.	Autor	Género	Institución - País
1	Salles-Gandara, Philippe	Hombre	Centro de Trastornos del Movimiento - Chile Clínica Dávila - Chile Clínica Alemana - Chile Ctr Trastornos Movimiento CETRAM - Chile Centro de trastornos del Movimiento (CETRAM) - Chile

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Financiamiento

Fuente
Sin Información

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Agradecimientos

Agradecimiento
In this month's Movement Disorders Rounds, Renaud and Ravel et al. report an illustrative case of a woman with a history of toe-walking and falls since the age of 4. She evolved with upper-limb intentional tremors, tetraplegia, and generalized spasticity, requiring a wheelchair at age 10. At 25, dystonia in her upper limbs and a dropping head were noticed. At 37, her brain and spine MRIs were unremarkable, and a multigene panel for hereditary spastic paraplegia (HSP) was negative. Lastly, at 43, the authors' neurological assessment revealed pyramidal signs, with bilateral extensor plantar responses and proximal limb weakness, supporting the hypothesis of an HSP. An exome identified a heterozygous GCH1 mutation at this time, and her treatment was reconsidered. After giving her a daily dose of 150 mg of levodopa, her limbs stiffness and cervical dystonia improved; surprisingly, she walked assisted again after more than 30 years.

Agradecimiento

In this month's Movement Disorders Rounds, Renaud and Ravel et al. report an illustrative case of a woman with a history of toe-walking and falls since the age of 4. She evolved with upper-limb intentional tremors, tetraplegia, and generalized spasticity, requiring a wheelchair at age 10. At 25, dystonia in her upper limbs and a dropping head were noticed. At 37, her brain and spine MRIs were unremarkable, and a multigene panel for hereditary spastic paraplegia (HSP) was negative. Lastly, at 43, the authors' neurological assessment revealed pyramidal signs, with bilateral extensor plantar responses and proximal limb weakness, supporting the hypothesis of an HSP. An exome identified a heterozygous GCH1 mutation at this time, and her treatment was reconsidered. After giving her a daily dose of 150 mg of levodopa, her limbs stiffness and cervical dystonia improved; surprisingly, she walked assisted again after more than 30 years.