Table 1

	Index case	Mother	Father	Brother	Maternal grandfather	Maternal uncle
Symptomatic:	+	+	-	-	+	-
SPG3A exon 1	wt
SPG3A exon 2	SNP
SPG3A exon 3	SNP
SPG3A exon 4	SNP
SPG3A exon 5	wt
SPG3A exon 6	SNP
SPG3A exon 7	c.650G>A	c.650G>A	wt	wt	c.650G>A	wt
SPG3A exon 8	wt
SPG3A exon 9	wt
SPG3A exon 10	wt
SPG3A exon 11	wt
SPG3A exon 12	wt
SPG3A exon 13	wt
SPG3A exon 14	wt
SPG31 exon 1	wt
SPG31 exon 2-7	Dup	Dup	wt	Dup	Dup	wt

Mutation analysis (Centogene, Rostock, Germany) of SPG3A (Atlastin) and SPG31 (REEP1). wt = wildtype, SNP = single nucleotide polymorphism, Dup = duplication of exons. Only mutations suspected to be of clinical significance were analyzed in relatives to index case.

Table 1: Summary of SPG3A and SPG31 mutations in the family of the index case.