A recombinant Friedreich's ataxia family

Friedreich's ataxia (FA) is a progressive neurodegenerative disorder, with autosomal recessive inheritance, characterized by gait ataxia, muscle weakness, areflexia of the lower limbs, dysarthria and sensory disturbances. In our recombinant family, the four affected children have unequivocal FA...

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Bibliographic Details
Published in:Human genetics 1993-04, Vol.91 (3), p.273-274
Main Authors: LUCOTTE, G, BERRICHE, S, TURPIN, J. C
Format: Article
Language:English
Subjects:
Biological and medical sciences
Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases
family studies
Female
Freidreich's ataxia
Friedreich Ataxia - genetics
Humans
Male
man
Medical sciences
Neurology
Pedigree
recombinants
Recombination, Genetic
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Summary:Friedreich's ataxia (FA) is a progressive neurodegenerative disorder, with autosomal recessive inheritance, characterized by gait ataxia, muscle weakness, areflexia of the lower limbs, dysarthria and sensory disturbances. In our recombinant family, the four affected children have unequivocal FA that meets the criteria of Harding (1981); a possible sample mix-up has been ruled out. The father is homozygous for both D9S15 and D9S5 loci, and the mother heterozygous for all but the DR47 locus. The individual II sub(4) is recombinant between FRDA and both D9S15 and D9S5 loci. She will be useful in future studies regarding the identification of the FRDA locus. Another consequence of this finding is that the markers used could be utilized, with caution, for presymptomatic diagnosis in some FRDA families.
ISSN:0340-6717
1432-1203
DOI:10.1007/BF00218270