Table 1

Clinical features and OPTN variants

Patient ID	Onset site	Family history	Variant				PolyPhen analysis
Patient ID	Onset site	Family history	Exon	Nucleotide change	Amino acid change	Status	PolyPhen analysis
67	Spinal	No	5	c.277G→C	p.A93P	Heterozygous	Possibly damaging
462	Bulbar	No	14	c.1433A→G^*	p.E478G	Heterozygous	Probably damaging
594	Bulbar	Yes	14	c.1433A→G^*	p.E478G	Homozygous	Probably damaging

↵* Known mutation (Maruyama et al1).