Spastic paraplegia, epilepsy, and mental retardation in several members of a family: A novel genetic disorder
โ Scribed by Gigli, G. L. ;Diomedi, M. ;Bernardi, G. ;Placidi, F. ;Marciani, M. G. ;Calia, E. ;Maschio, M. C. E. ;Neri, G.
- Book ID
- 102703049
- Publisher
- John Wiley and Sons
- Year
- 1993
- Tongue
- English
- Weight
- 599 KB
- Volume
- 45
- Category
- Article
- ISSN
- 0148-7299
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๐ SIMILAR VOLUMES
## 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__.
We report on a patient with agenesis of the corpus callosum (ACC), severe mental retardation, infantile spasms and subsequent intractable epilepsy, spastic/dyskinetic quadriparesis, severe limb contractures, and scoliosis. This complex, newly described phenotype, is due to a novel non-conservative m