Segregation of a pure form of spastic paraplegia and NOR insertion into Xq11.2

Ayako Tamagaki, Midori Shima, Reiko Tomita, Motoaki Okumura, Masaru Shibata, Syogo Morichika, Hiroki Kurahashi, John C. Giddings, Akira Yoshioka, Yoshihiro Yokobayashi

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37 Citations (Scopus)


A 3-year-old boy, his 7-year-old brother, and a maternal uncle had a pure form of spastic paraplegia and a variant X chromosome with a faintly stained gap at Xq11.2. The mother of the propositus also had the variant X chromosome but was clinically unaffected. Three other unaffected females in the family did not have the variant X chromosome. The gaps in the variant X chromosome from the affected members and the mother were Ag-NOR staining positive, C-banding negative, rDNA FISH analysis positive, and α-satellite FISH analysis negative. The gap, therefore, represented an insertion of the nucleolus organizer region (NOR) derived from the short arm of an acrocentric chromosome. The variant X chromosome of the mother was randomly inactivated, as evidenced by BrdU replication analysis of her Epstein-Barr virus-transformed lymphoblastoid cells. Because mutations of the proteolipid protein gene at Xq21 have been responsible for a pure form of spastic paraplegia, this was also investigated but found to be negative in all affected relatives. Summing up these findings, it is proposed that the NOR insertion in the affected members of the family disrupted a hitherto unknown gene for a pure form of spastic paraplegia, situated at Xq11.2, and caused the disorder. (C) 2000 Wiley-Liss, Inc.

Original languageEnglish
Pages (from-to)5-8
Number of pages4
JournalAmerican Journal of Medical Genetics
Issue number1
Publication statusPublished - 04-09-2000
Externally publishedYes

All Science Journal Classification (ASJC) codes

  • Genetics(clinical)


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