Table 1

SPG4 mutations in 12 Japanese probands with AD-HSP

Patient No	Location	Mutation	Amino acid change	Effect
98-175	Exon 13	1620C→T	R499C	Missense
99-15	Intron 14	1742-1g→t	?	Splicing mutation
99-33	Exon 7	1164C→A	Q347K	Missense
99-116	Exon 8	1288A→G	K388R	Missense
99-175	Intron 9	1370+1g→t	?	Splicing mutation