D313Y mutation in the differential diagnosis of white matter lesions: Experiences from a multiple sclerosis outpatient clinic.
Mult Scler
; 22(11): 1502-1505, 2016 10.
Article
en En
| MEDLINE
| ID: mdl-26993117
ABSTRACT
White matter lesions (WML) in younger patients might be due to a variety of neurological disorders. Fabry disease (FD), an x-linked inherited lysosomal storage disorder, happens to be misdiagnosed as multiple sclerosis (MS). In two middle-aged female patients, presenting bilateral WML, diagnosis of MS turned out to be doubtful. Human genetic analysis presented the Fabry mutation D313Y, in which clinical impact is still unclear. Disease manifestations outside the central nervous system were not detected. Our findings support the suspicion that Fabry mutation D313Y may be involved in neural damage resulting in WML.
Palabras clave
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Encéfalo
/
Enfermedad de Fabry
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Alfa-Galactosidasa
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Leucoencefalopatías
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Esclerosis Múltiple
Tipo de estudio:
Diagnostic_studies
/
Etiology_studies
Límite:
Adult
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Female
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Humans
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Male
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Middle aged
Idioma:
En
Revista:
Mult Scler
Asunto de la revista:
NEUROLOGIA
Año:
2016
Tipo del documento:
Article
País de afiliación:
Alemania