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	Spasticity, lower limb Abnormality of the bladder Babinski sign	n.a.	p.Gly559Asp: het
Yes	n.a.	C	USA	n.a.	n.a.	No	Cognitive impairment Seizures Spasticity, lower limb Walking aids Show more (+1)	n.a.	c.1173+1G>A: het
Yes	n.a.	C	CAN	60	n.a.	No	Spasticity, lower limb Inability to walk Wheelchair Hyperreflexia in upper limbs Show more (+1)	n.a.	p.Ser399Leu: het
Yes	n.a.	C	USA	n.a.	n.a.	No	Spasticity, lower limb Babinski sign Hyperreflexia in upper limbs	n.a.	p.Arg562*: het
Yes	n.a.	C	CAN	n.a.	n.a.	No	Babinski sign Spasticity, lower limb Hyperreflexia in upper limbs	n.a.	p.Lys414Lys: het
Yes	n.a.	C	CAN	37	n.a.	No	Spasticity, lower limb Hyperreflexia in upper limbs Babinski sign	n.a.	p.Ala188Profs*8: het
Yes	n.a.	C	CAN	70	n.a.	No	Spasticity, lower limb Abnormality of the bladder Babinski sign	n.a.	p.Gly559Asp: het
Yes	n.a.	C	USA	n.a.	n.a.	No	Spasticity, lower limb Abnormality of the bladder Inability to walk Wheelchair Show more (+1)	n.a.	p.Leu426Val: het
Yes	n.a.	C	USA	n.a.	n.a.	No	Inability to walk Steppage gait Wheelchair Spasticity, lower limb Show more (+1)	n.a.	c.1729-1G>C: het
Yes	n.a.	C	USA	55	n.a.	No	Spasticity, lower limb Abnormality of the bladder Babinski sign	n.a.	p.Arg562Gln: het