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NEUROLOGY 1987;37:1019
© 1987 American Academy of Neurology

A pedigree with protanopia and bulbospinal muscular atrophy

Eiichiro Mukai, MD and Tetsuji Yasuma, MD

Fourth Department of Internal Medicine (Dr. Mukai), Aichi Medical University, Nagakute-cho, Aichi-ken; and the Department of Ophthalmology (Dr. Yasuma), Nagoya University School of Medicine, Nagoya, Japan.

We have studied one family of a pedigree in which bulbospinal muscular atrophy and protanopia were segregated. Genotypes for these disorders were obtained on three generations, and the maximum likelihood estimate of recombination fraction was 0.4 with the lod score method. The results indicated that the two loci are not close; the locus for bulbospinal muscular atrophy is not located near the end of the long arm of the X chromosome.

Address correspondence and reprint requests to Dr. Mukai, Fourth Department of Internal Medicine, Aichi Medical University, Nagakute-cho, Aichi-ken, 480-11, Japan.

Received April 21, 1986. Accepted for publication in final form October 7, 1986.






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