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Clinical and genetic study of a Brazilian family with spastic paraplegia (SPG6 locus)

✍ Scribed by Renato P. Munhoz; Toshitaka Kawarai; Helio A. Teive; Salmo Raskin; Christine Sato; Yan Liang; Peter H. St. George-Hyslop; Ekaterina Rogaeva

Publisher
John Wiley and Sons
Year
2006
Tongue
English
Weight
82 KB
Volume
21
Category
Article
ISSN
0885-3185

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✦ Synopsis

Abstract

We describe a Brazilian family in which inheritance of a G106R mutation in the SPG6 gene (also know as NIPA1) resulted in an autosomal dominant form of hereditary spastic paraplegia (ADHSP). Clinical investigations indicated that this family has a pure form of spastic paraplegia. All patients presented with gait difficulty in their twenties, progressing to frank spastic paraplegia during the next decade. Our report further supports evidence that mutations in SPG6 cause ADHSP. Β© 2005 Movement Disorder Society

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