Levodopa-Responsive Isolated Generalized Dystonia in a Patient with Alpha-Mannosidosis Due to a Novel Homozygous MAN2B1 Missense Variant-A Novel Association.

Holla, Vikram V; Gurram, Sandeep; Kamath, Sneha D; Kamble, Nitish; Yadav, Ravi; Pal, Pramod Kumar

Holla, Vikram V; Gurram, Sandeep; Kamath, Sneha D; Kamble, Nitish; Yadav, Ravi; Pal, Pramod Kumar.

Afiliación

Holla VV; Department of Neurology, National Institute of Mental health and Neurosciences, Bengaluru, India.
Gurram S; Department of Neurology, National Institute of Mental health and Neurosciences, Bengaluru, India.
Kamath SD; Department of Neurology, National Institute of Mental health and Neurosciences, Bengaluru, India.
Kamble N; Department of Neurology, National Institute of Mental health and Neurosciences, Bengaluru, India.
Yadav R; Department of Neurology, National Institute of Mental health and Neurosciences, Bengaluru, India.
Pal PK; Department of Neurology, National Institute of Mental health and Neurosciences, Bengaluru, India.

Mov Disord Clin Pract ; 11 Suppl 2: S8-S10, 2024 Aug.

Article en En | MEDLINE | ID: mdl-38243728

Asunto(s)

Trastornos Distónicos; Levodopa; Mutación Missense; alfa-Manosidosis; Humanos; Levodopa/uso terapéutico; Trastornos Distónicos/genética; Trastornos Distónicos/tratamiento farmacológico; alfa-Manosidosis/genética; alfa-Manosidosis/tratamiento farmacológico; Masculino; Distonía/tratamiento farmacológico; Distonía/genética; Femenino; Homocigoto

Palabras clave

MAN2B1; alpha Mannosidosis; isolated generalized dystonia

Texto completo

Imprimir

XML

PubMed Links

Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Levodopa / Mutación Missense / Trastornos Distónicos / Alfa-Manosidosis Tipo de estudio: Risk_factors_studies Límite: Female / Humans / Male Idioma: En Revista: Mov Disord Clin Pract Año: 2024 Tipo del documento: Article País de afiliación: India

Texto completo

Imprimir

XML

PubMed Links

Buscar en Google