Novel and recurrent spastin mutations in a large series of SPG4 Italian families
β Scribed by L. Nanetti; S. Baratta; M. Panzeri; C. Tomasello; C. Lovati; J. Azzollini; C. Gellera; D. Di Bella; F. Taroni; C. Mariotti
- Book ID
- 118488100
- Publisher
- Elsevier Science
- Year
- 2012
- Tongue
- English
- Weight
- 180 KB
- Volume
- 528
- Category
- Article
- ISSN
- 0304-3940
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
## Abstract A novel __SPG4__ 906delT frameβshift mutation in exon 6 was identified in a large Italian family with an autosomal dominant form of hereditary spastic paraplegia (ADHSP). Intrafamilial phenotypic variations observed in the pedigree included spasticity and additional clinical features, s
Hereditary spastic paraplegia (HSP) is a heterogeneous condition characterised in its pure form by progressive lower limb spasticity. Mutations in SPG4 (encoding spastin) may be responsible for up to 40% of autosomal dominant (AD) cases. A cohort of 41 mostly pure HSP patients from Britain and Austr