A new SPG4 mutation in a variant form of spastic paraplegia with congenital arachnoid cysts.

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

Neurology

journal_title

Neurology

authors

Orlacchio A,Gaudiello F,Totaro A,Floris R,St George-Hyslop PH,Bernardi G,Kawarai T

doi

10.1212/01.wnl.0000125324.32082.d9

subject

Has Abstract

pub_date

2004-05-25 00:00:00

pages

1875-8

issue

10

eissn

0028-3878

issn

1526-632X

journal_volume

62

pub_type

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