title: A family segregating a Friedreich ataxia phenotype that is not linked to the FRDA locus.
abstract: Friedreich ataxia is an autosomal recessive neurodegenerative disorder. The genetic homogeneity to the FRDA locus on chromosome 9q13-21.1 has been observed in families from different ancestries. We report a Spanish family with two affected and three unaffected children. The segregated classical Friedreich ataxia did not show the expected linkage. The analysis focusses on flanking markers FR1, FR2, FR7 and FR5, excluding linkage 1 cM around the FRDA locus. The unique clinical hallmark in this family was the absence of cardiomyopathy after a long-term follow-up in the two affected children. In both patients serum vitamin E levels were normal. The present observations support the existence of a second locus in Friedreich ataxia, and we suggest that this form could be clinically characterized by the absence of muscular heart disease.
authors.affiliation: Unitat de Genètica, Hospital Universitari La Fe, Valencia, Spain.
authors.forename: P
authors.initials: P
authors.lastname: Smeyers
authors.forename: E
authors.initials: E
authors.lastname: Monrós
authors.forename: J
authors.initials: J
authors.lastname: Vílchez
authors.forename: J
authors.initials: J
authors.lastname: Lopez-Arlandis
authors.forename: F
authors.initials: F
authors.lastname: Prieto
authors.forename: F
authors.initials: F
authors.lastname: Palau
mesh_terms: D048868:Adaptor Proteins, Signal Transducing; D000293:Adolescent; D000328:Adult; D005260:Female; D005621:Friedreich Ataxia / Q000235:genetics* / Q000503:physiopathology; D018740:Genetic Heterogeneity; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D008297:Male; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D013030:Spain
chemical_list: C079091:APBA1 protein, human; D048868:Adaptor Proteins, Signal Transducing; D005819:Genetic Markers; D009419:Nerve Tissue Proteins