Clinical Characteristics and Gene Mutations Analysis of a ALS10 Chinese Han Family / 中山大学学报(医学科学版)
Journal of Sun Yat-sen University(Medical Sciences)
; (6): 545-550, 2017.
Article
en Zh
| WPRIM
| ID: wpr-621446
Biblioteca responsable:
WPRO
ABSTRACT
[Objective] To explore the clinical features,genetic characters in family amyotrophic lateral sclerosis (ALS10)patients.[Methods] TARDBP gene mutations in Chinese Han family patients with ALS10 diagnosed by the First Affiliated Hospital of Sun Yat-sen University in 2013 was screened by high-throughput sequencing.[Results] There were 5 patients in three generations in this family.The initial symptoms in all affected members were distal limb muscle weakness and dystrophy at their 50 age.With a rapid progression of symptoms about 8 to 18 months.A homozygous missense mutation (c.892G＞A) were detected in TARDBP gene exon 6 of the propositus,as well as the other three family members without any clinical symptoms.[Conclusion] ALS10 is a faster progressive and shorter survival time FALS.Since there was no effective treatment in ALS10,hereditary consultation and prenatal diagnosis play an important role in disease prevention and hereditary.
Texto completo:
1
Base de datos:
WPRIM
Idioma:
Zh
Revista:
Journal of Sun Yat-sen University(Medical Sciences)
Año:
2017
Tipo del documento:
Article