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

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


Publisher
John Wiley and Sons
Year
2000
Tongue
English
Weight
393 KB
Volume
94
Category
Article
ISSN
0148-7299

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## Abstract We describe a Japanese family in which inheritance of a novel mutation p.A100T in __SPG6__ resulted in an autosomal dominant form of hereditary spastic paraplegia (ADHSP). Clinical investigation showed a pure form of HSP. Our study demonstrates further allelic heterogeneity of __SPG6__.