We have reinvestigated a large kindred identified over 25 years ago segregating for a form of pure autosomal dominant hereditary spastic paraplegia (HSP). We have examined additional relatives in order to refine the clinical and genetic characteristics of this disorder, and performed an analysis to
Clinical and genetic analysis of four Taiwanese families with autosomal dominant hereditary spastic paraplegia
β Scribed by Lan, Min-Yu; Fu, Ser-Chen; Chang, Yung-Yee; Wu-Chou, Yah-Huei; Lai, Szu-Chia; Chen, Rou-Shyan; Lu, Chin-Song
- Book ID
- 119297186
- Publisher
- Chinese Electronic Periodical Services
- Year
- 2012
- Tongue
- English
- Weight
- 518 KB
- Volume
- 111
- Category
- Article
- ISSN
- 0929-6646
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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
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