Familial syringomyelia: the first Japanese case and review of the literature.
We reported on syringomyelia in a mother and her son. The mother was 74-year-old, who developed gait difficulty at the age of 54. The son, 47-year-old, developed the same symptoms at the age of 35. In the both cases, MRI revealed syringomyelia with Chiari malformation. Twenty-one families with syringomyelia have been reported. The existence of these families indicates that genetic factors may play in role to the pathogenesis of this disorder.
Yabe
Ichiro
I
Department of Neurology, Hokkaido University Graduate School of Medicine, N15 W7, Kita-ku, Sapporo 060-8638, Japan. yabe@med.hokudai.ac.jp
Kikuchi
Seiji
S
Tashiro
Kunio
K
D000368:Aged; D001139:Arnold-Chiari Malformation / Q000235:genetics / Q000473:pathology / Q000601:surgery; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D013595:Syringomyelia / Q000235:genetics* / Q000473:pathology / Q000601:surgery