Recent advances of study on hereditary diffuse leukoencephalopathy with spheroids / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 330-333, 2014.
Artigo
em Chinês
| WPRIM
| ID: wpr-254455
ABSTRACT
Hereditary diffuse leukoencephalopathy with neuroaxonal spheroids (HDLS) is a rare autosomal dominant leukoencephalopathy disease, and colony stimulating factor 1 receptor (CSF1R) is the only gene in which mutations are known to cause HDLS. HDLS should be suspected in individuals with progressive neurological decline, characteristic MR imaging findings, and positive family history. This article reviews recent advance in imaging findings, clinical manifestations, genetic counseling and management in HDLS.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Encéfalo
/
Diagnóstico por Imagem
/
Radiografia
/
Esferoides Celulares
/
Biologia Celular
/
Diagnóstico
/
Leucoencefalopatias
/
Genética
Tipo de estudo:
Estudo diagnóstico
Limite:
Humanos
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2014
Tipo de documento:
Artigo
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