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The p.Arg416Cys mutation in SPG3a gene associated with a pure form of spastic paraplegia

✍ Scribed by Angela Magariello; Carla Tortorella; Luigi Citrigno; Alessandra Patitucci; Rosanna Tortelli; Rosalucia Mazzei; Francesca Luisa Conforti; Carmine Ungaro; William Sproviero; Antonio Gambardella; Maria Muglia


Book ID
112147990
Publisher
John Wiley and Sons
Year
2012
Tongue
English
Weight
932 KB
Volume
45
Category
Article
ISSN
0148-639X

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πŸ“œ SIMILAR VOLUMES


Novel SPG6 mutation p.A100T in a Japanes
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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__.

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Hereditary spastic paraplegias (HSP) comprise a genetically and clinically heterogeneous group of neurodegenerative disorders characterised by progressive spasticity and hyperreflexia of the lower limbs. Autosomal dominant hereditary spastic paraplegia linked to the SPG3A locus on chromosome 14q11-2