EARLY-ONSET ATAXIA WITH CARDIOMYOPATHY AND RETAINED TENDON REFLEXES MAPS TO THE FRIEDREICHS ATAXIA LOCUS ON CHROMOSOME 9Q

被引：71

作者：

PALAU, F

DEMICHELE, G

VILCHEZ, JJ

PANDOLFO, M

MONROS, E

COCOZZA, S

SMEYERS, P

LOPEZARLANDIS, J

CAMPANELLA, G

DIDONATO, S

FILLA, A

机构：

[1] UNIV NAPLES FEDERICO II,NEUROL CLIN,DEPT NEUROL,I-80131 NAPLES,ITALY

[2] UNIV VALENCIA,HOSP LA FE,DEPT GENET,E-46100 VALENCIA,SPAIN

[3] UNIV VALENCIA,HOSP LA FE,DEPT NEUROL,E-46100 VALENCIA,SPAIN

[4] UNIV VALENCIA,HOSP LA FE,DEPT CLIN NEUROPHYSIOL,E-46100 VALENCIA,SPAIN

[5] UNIV VALENCIA,DEPT MED,E-46100 VALENCIA,SPAIN

[6] UNIV NAPLES FEDERICO II,DEPT CELLULAR BIOL & PATHOL,NAPLES,ITALY

[7] UNIV NAPLES FEDERICO II,CNR,CEOS,NAPLES,ITALY

[8] IST NEUROCHIRURG C BESTA,DEPT BIOCHEM & GENET,MILAN,ITALY

[9] HOSP VERGE LLIRIS,DEPT INTERNAL MED,NEUROL UNIT,ALCOY,SPAIN

来源：

ANNALS OF NEUROLOGY | 1995年 / 37卷 / 03期

关键词：

D O I：

10.1002/ana.410370312

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Absence of lower limb tendon reflexes has been considered an essential diagnostic criterion for Friedreich's ataxia (FA). However, preservation of knee and ankle jerks has been reported in a few patients. Linkage analysis to FA locus (FRDA) on chromosome 9q13-21.1 was performed in 11 patients from 6 families with FA phenotype, including cardiomyopathy, but retained reflexes (FARR). A maximal lod store of 3.38 at recombination fraction theta equal to 0.00 was obtained demonstrating that FARR maps to the FRDA locus. These results suggest that FARR is a variant phenotype of FA.

引用

页码：359 / 362

页数：4

共 32 条

[1] ISOLATION AND MAPPING OF A POLYMORPHIC DNA-SEQUENCE PMCT112 ON CHROMOSOME-9Q (D9S15) [J].