Details

Autor(en) / Beteiligte

• Li, Xun-hua
• Song, Chun
• Chen, Su-qin
• Zhou, Yan
• Guo, Hui
• Zhou, Chun-long
• Yang, Zhi-yun
• Liang, Yin-xing
• Wang, Yi-ming

Titel

A SPG3A mutation with a novel foot phenotype of hereditary spastic paraplegia in a Chinese Han family

Ist Teil von

• Chinese medical journal, 2007-05, Vol.120 (9), p.834-837

Ort / Verlag

China: Department of Neurology, First Affiliated Hospital, Sun Yat-Sen University, Guangzhou, 510089, China%Laboratory for Cellular Transplantation, First Affiliated Hospital,Harbin Medical University, Harbin 150001, China%Department of Medical Genetics, Zhongshan Medical College, Sun Yat-Sen University, Guangzhou, 510089, China%Chinese National Human Genome Centre at Shanghai, Shanghai 201203, China%Hangzhou Genomics Centre, Hangzhou 310007, China%Department of Radiology, First Affiliated Hospital, Sun Yat-Sen University, Guangzhou, 510089, China

Erscheinungsjahr

2007

Quelle

MEDLINE

Beschreibungen/Notizen

• Hereditary spastic paraplegia （HSP） （MIM#182600） is a group of heterogeneous neurodegenerative disorders, with 35 underlying loci recognized by the HGNC （HUGO Gene Nomenclature Committee; http：//www.gene.ucl.ac.uk/nomenclature/） and 10 identified genes （ http ： //www. gene. ucl. ac. uk/cgi-bin/nomenc lature/ searchgenes.pl plus NIPA1, last search July 2006）. The mode of inheritance may be autosomal dominant, autosomal recessive or X-linked. Among these, autosomal dominant spastic paraplegia （AD-HSP） is the most common type, accounting for 70%-80% of all families. The disease is characterized by lower limb spasticity, hyperreflexia, progressive spastic gait and an extensor plantar response. Pes cavus is one of the commonly reported foot phenotypes.