Research on clinical and molecular genetics of hereditary spastic paraplegia 11 patients in China / 中南大学学报(医学版)
Journal of Central South University(Medical Sciences)
;
(12): 1729-1732, 2022.
Article
Dans Anglais
| WPRIM
| ID: wpr-971357
ABSTRACT
The hereditary spastic paraplegia (HSP) is a rare hereditary disease in nervous system due to the damage of corticospinal tract. HSP has various inheritance modes, including autosomal dominant inheritance, autosomal recessive inheritance, X-linked inheritance, and mitochondrial inheritance in some cases. At present, there are at least 80 subtypes of HSP. Hereditary spastic paraplegia type 11 (SPG11) is the most common subtype in autosomal recessive inheritance, and its pathogenic factor is KIAA1840 gene, which encodes spatacsin protein. A total of 52 SPG11 patients aged from 4-24 years old have been reported. Their initial symptoms were gait disturbance and/or mental retardation. As the disease develops, they may present with mental retardation, sphincter disturbance, decreased vision, ataxia, amyotrophy, pes arcuatus, ophthalmoplegia, peripheral neuropathy, and others. Except agenesis of the corpus callosum and periventricular white matter changes, patients might show cortical atrophy, ventricular dilation, and cerebellar atrophy, and so on. Chinese SPG11 patients manifested significant clinical and genetical heterogeneity and no obvious gender difference. Of them, 37 pathogenic mutations of KIAA1840 gene were detected, which all introduced truncated mutation of spatacsin protein. KIAA1840 gene frameshift mutation is the most common type of mutation.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Atrophie
/
Paraplégie spasmodique héréditaire
/
Protéines
/
Déficience intellectuelle
/
Mutation
Limites du sujet:
Adolescent
/
Enfant
/
Enfant d'âge préscolaire
/
Humains
langue:
Anglais
Texte intégral:
Journal of Central South University(Medical Sciences)
Année:
2022
Type:
Article
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