## Abstract **Background:** Autosomal recessive hereditary spastic paraplegia with thin corpus callosum is a neurodegenerative disorder characterized by spastic paraparesis, cognitive impairment, and peripheral neuropathy. The neuroradiologic hallmarks are thin corpus callosum and periventricular w
✦ LIBER ✦
Early onset autosomal dominant spastic paraplegia caused by novel mutations inSPG3A
✍ Scribed by Annette Abel; Nuria Fonknechten; Anne Hofer; Alexandra Dürr; Corinne Cruaud; Thomas Voit; Jean Weissenbach; Alexis Brice; Sven Klimpe; Georg Auburger; Jamilé Hazan
- Book ID
- 106257080
- Publisher
- Springer
- Year
- 2004
- Tongue
- English
- Weight
- 170 KB
- Volume
- 5
- Category
- Article
- ISSN
- 1364-6745
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We set up a new denaturing high-performance liquid chromatography (DHPLC)-based protocol to screen patients with autosomal dominant hereditary spastic paraplegia (AD-HSP) for mutations in SPG4. Six patients had a complicated form and 49 a pure HSP phenotype. We also analyzed 19 unrelated patients pr
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