How relevant are cerebral white matter lesions in the D313Y variant of the &#945;-galactosidase A gene? Neurological, cardiological, laboratory, and MRI data of 21 patients within a follow-up of 3 years.

Strunk, Daniel; Becker, Jana; Veltkamp, Roland; Meuth, Sven G; Bauer, Peter; Böttcher, Tobias; Rolfs, Arndt; Schwitalla, Jan Claudius; Kraemer, Markus

How relevant are cerebral white matter lesions in the D313Y variant of the α-galactosidase A gene? Neurological, cardiological, laboratory, and MRI data of 21 patients within a follow-up of 3 years.

Strunk, Daniel; Becker, Jana; Veltkamp, Roland; Meuth, Sven G; Bauer, Peter; Böttcher, Tobias; Rolfs, Arndt; Schwitalla, Jan Claudius; Kraemer, Markus.

Afiliación

Strunk D; Department of Neurology, Alfried Krupp Krankenhaus Essen, Alfried-Krupp-Straße 21, 45131, Essen, Germany. daniel.strunk@krupp-krankenhaus.de.
Becker J; Department of Neurology, Alfried Krupp Krankenhaus Essen, Alfried-Krupp-Straße 21, 45131, Essen, Germany.
Veltkamp R; Department of Neurology, Alfried Krupp Krankenhaus Essen, Alfried-Krupp-Straße 21, 45131, Essen, Germany.
Meuth SG; Department of Brain Sciences, Imperial College London, London, UK.
Bauer P; Department of Neurology, University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.
Böttcher T; CENTOGENE GmbH, Rostock, Germany.
Rolfs A; CENTOGENE GmbH, Rostock, Germany.
Schwitalla JC; Medical Service Center of Johanna-Odebrecht-Stiftung, Greifswald, Germany.
Kraemer M; Arcenus Diagnostics, Hoboken, NJ, 07030, USA.

Neurol Sci ; 44(4): 1375-1381, 2023 Apr.

Article en En | MEDLINE | ID: mdl-36456878

Asunto(s)

Enfermedad de Fabry; Esclerosis Múltiple; Sustancia Blanca; Masculino; Femenino; Humanos; alfa-Galactosidasa/genética; Enfermedad de Fabry/diagnóstico por imagen; Enfermedad de Fabry/genética; Enfermedad de Fabry/complicaciones; Sustancia Blanca/patología; Estudios Retrospectivos; Estudios de Seguimiento; Esclerosis Múltiple/complicaciones; Imagen por Resonancia Magnética; Encéfalo/patología

Palabras clave

D313Y variant; Enzyme replacement therapy; Fabry disease; LysoGb3; Multiple sclerosis; White matter lesions

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Enfermedad de Fabry / Sustancia Blanca / Esclerosis Múltiple Tipo de estudio: Prognostic_studies Límite: Female / Humans / Male Idioma: En Revista: Neurol Sci Asunto de la revista: NEUROLOGIA Año: 2023 Tipo del documento: Article País de afiliación: Alemania

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