| Autor: |
Orlacchio, A., Gaudiello, F., Totaro, A., Floris, R., St George-Hyslop, P.H., Bernardi, G., Kawarai, T. |
| Zdroj: |
Neurology (Ovid); May 2004, Vol. 62 Issue: 10 p1875-1878, 4p |
| Abstrakt: |
The clinical and genetic findings are described for 16 patients from a large Italian family with a variant form of hereditary spastic paraplegia and congenital arachnoid cysts inherited as an autosomal dominant trait. A molecular study has revealed a novel missense mutation, T614I, in exon 17 of SPG4, which may play a role in both focal cortical dysgenesis and neurodegeneration of the motor neurons in the corticospinal tract. |
| Databáze: |
Supplemental Index |
| Externí odkaz: |
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