T2 olivary nuclei hyperintensities: A characteristic neuroimaging finding in FIG4-related leukoencephalopathy.

Sait, Haseena; Shambhavi, Arya; Pandey, Manmohan; Ravichandran, Deepak; Phadke, Shubha R

Sait, Haseena; Shambhavi, Arya; Pandey, Manmohan; Ravichandran, Deepak; Phadke, Shubha R.

Afiliación

Sait H; Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India.
Shambhavi A; Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India.
Pandey M; Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India.
Ravichandran D; Department of Radiodiagnosis and Imaging, Medanta Hospital, Lucknow, India.
Phadke SR; Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India.

Am J Med Genet A ; 191(3): 864-869, 2023 03.

Article en En | MEDLINE | ID: mdl-36529678

Asunto(s)

Leucoencefalopatías; Neuroimagen; Humanos; Fenotipo; Leucoencefalopatías/diagnóstico por imagen; Leucoencefalopatías/genética; Atrofia; Flavoproteínas/genética; Monoéster Fosfórico Hidrolasas/genética

Palabras clave

FIG4 related leukoencephalopathy; cerebellar atrophy; dystonia; olivary nuclei hyperintensities; thalamic hyperintensities

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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Leucoencefalopatías / Neuroimagen Tipo de estudio: Diagnostic_studies Límite: Humans Idioma: En Año: 2023 Tipo del documento: Article

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