Analysis ofCYP7B1in non-consanguineous cases of hereditary spastic paraplegia
✍ Scribed by Rebecca Schüle; Elisabeth Brandt; Kathrin N. Karle; Maria Tsaousidou; Stephan Klebe; Sven Klimpe; Michaela Auer-Grumbach; Andrew H. Crosby; Christian A. Hübner; Ludger Schöls; Thomas Deufel; Christian Beetz
- Publisher
- Springer
- Year
- 2008
- Tongue
- English
- Weight
- 203 KB
- Volume
- 10
- 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
## Abstract Hereditary spastic paraplegia (HSP) is characterized by lower extremity spasticity. Symptomatic therapy generally includes physical therapy and oral antispastic agents, in selected cases intrathecal baclofen. Because of the positive results in other treatments of spasticity, the use of
Hereditary spastic paraplegias (HSP) comprise a genetically and clinically heterogeneous group of neurodegenerative disorders characterized by progressive spasticity and hyperreflexia of the lower limbs. Autosomal dominant hereditary spastic paraplegia 4 linked to chromosome 2p (SPG4) is the most co