A locus for complicated hereditary spastic paraplegia maps to chromosome 1q24-q32

被引：30

作者：

Blumen, SC

Bevan, S

Abu-Mouch, S

Negus, D

Kahana, M

Inzelberg, R

Mazarib, A

Mahamid, A

Carasso, RL

Slor, H

Withers, D

Nisipeanu, P

Navon, R

Reid, E

机构：

[1] Hillel Yaffe Med Ctr, Dept Neurol, Hadera, Israel

[2] Technion, Bruce Rappaport Fac Med, Haifa, Israel

[3] Univ Cambridge, Dept Med Genet, Cambridge, England

[4] Hillel Yaffe Med Ctr, Dept Internal Med, Hadera, Israel

[5] Babraham Inst, Med Res Council Geneserv, Cambridge, England

[6] Hillel Yaffe Med Ctr, Dermatol Unit, Hadera, Israel

[7] Hillel Yaffe Med Ctr, Child Dev Unit, Hadera, Israel

[8] Sackler Sch Med, Dept Human Genet, Tel Aviv, Israel

来源：

ANNALS OF NEUROLOGY | 2003年 / 54卷 / 06期

关键词：

D O I：

10.1002/ana.10768

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

We updated the clinical features of a consanguineous Arab Israeli family, in which four of seven children were affected by spastic paraplegia complicated by skin pigmentary abnormalities. A genomewide linkage screen performed for the family identified a new locus (SPG23) for this form of hereditary spastic paraplegia, in an approximately 25cM region of chromosome 1q24-q32, with a peak logarithm of odds score of 3.05.

引用

页码：796 / 803

页数：8

共 36 条

[1] DISORDERED PIGMENTATION, SPASTIC PARAPARESIS AND PERIPHERAL NEUROPATHY IN 3 SIBLINGS - A NEW NEUROCUTANEOUS SYNDROME [J].