Chinese Cases of Metachromatic Leukodystrophy with the Novel Missense Mutations in ARSA Gene.
J Mol Neurosci
; 71(2): 245-251, 2021 Feb.
Article
en En
| MEDLINE
| ID: mdl-32617873
ABSTRACT
Metachromatic leukodystrophy(MLD) is an autosomal recessive hereditary neurodegenerative lysosomal storage disorder caused by the mutations in arylsulfatase A gene (ARSA), which results in the deficiency of ARSA enzyme. The common clinical characteristics of MLD are abnormal gait, and then gradually appears ataxia, spastic quadriplegia, optic atrophy, cortical blindness, and dementia. We describe two patients in China who were diagnosed with MLD and find that the four ARSA gene mutations (c.1115G>A, c.302G>T, c.893 G> T, and c.302G>T) are associated with MLD, in which c.893 G>T and c.302G>T are novel mutations by gene sequence and clinical manifestations, to further understand the relationship between MLD and ARSA gene.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Cerebrósido Sulfatasa
/
Mutación Missense
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Pueblo Asiatico
/
Leucodistrofia Metacromática
Tipo de estudio:
Prognostic_studies
Límite:
Child, preschool
/
Female
/
Humans
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Male
Idioma:
En
Revista:
J Mol Neurosci
Asunto de la revista:
BIOLOGIA MOLECULAR
/
NEUROLOGIA
Año:
2021
Tipo del documento:
Article