Abstract:
: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.
journal_name
Neurologyjournal_title
Neurologyauthors
Orlacchio A,Gaudiello F,Totaro A,Floris R,St George-Hyslop PH,Bernardi G,Kawarai Tdoi
10.1212/01.wnl.0000125324.32082.d9subject
Has Abstractpub_date
2004-05-25 00:00:00pages
1875-8issue
10eissn
0028-3878issn
1526-632Xjournal_volume
62pub_type
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