MDSGene

Index patient	Sex	Ethnicity	Country of origin	AAO	AAE	Family history	Symptoms	Initial symptoms	Reported mutations
Yes	n.a.	C	CAN	25	n.a.	No	Abnormality of the bladder Spasticity, lower limb Babinski sign	n.a.	p.Gly559Asp: het
Yes	n.a.	C	USA	n.a.	n.a.	No	Cognitive impairment Walking aids Spasticity, lower limb Seizures Show more (+1)	n.a.	c.1173+1G>A: het
Yes	n.a.	C	CAN	60	n.a.	No	Wheelchair Inability to walk Hyperreflexia in upper limbs Spasticity, lower limb Show more (+1)	n.a.	p.Ser399Leu: het
Yes	n.a.	C	USA	n.a.	n.a.	No	Babinski sign Hyperreflexia in upper limbs Spasticity, lower limb	n.a.	p.Arg562*: het
Yes	n.a.	C	CAN	n.a.	n.a.	No	Spasticity, lower limb Babinski sign Hyperreflexia in upper limbs	n.a.	p.Lys414Lys: het
Yes	n.a.	C	CAN	37	n.a.	No	Hyperreflexia in upper limbs Spasticity, lower limb Babinski sign	n.a.	p.Ala188Profs*8: het
Yes	n.a.	C	CAN	70	n.a.	No	Abnormality of the bladder Babinski sign Spasticity, lower limb	n.a.	p.Gly559Asp: het
Yes	n.a.	C	USA	n.a.	n.a.	No	Abnormality of the bladder Spasticity, lower limb Wheelchair Inability to walk Show more (+1)	n.a.	p.Leu426Val: het
Yes	n.a.	C	USA	n.a.	n.a.	No	Wheelchair Steppage gait Inability to walk Spasticity, lower limb Show more (+1)	n.a.	c.1729-1G>C: het
Yes	n.a.	C	USA	55	n.a.	No	Babinski sign Spasticity, lower limb Abnormality of the bladder	n.a.	p.Arg562Gln: het