Table 1.

Clinical features of all SPG11 cases with mutations in the (Spatacsin) KIAA1840 gene.

Family/Origin	Inheritance	Mutation	Age at onset (symptoms)	Age at exam	Severity	Gait	Ataxia	Reflexes	Plantars	Neuropathy	Cognitive problems	Sphincter problems	MRI	EMG/NCS	Other
Family 1 Iran	Parents first cousins	c..398delG/p.C133LfsX154 in homozygous (exon2)	17 (walking)	27	Severe	Wheelchair	yes	+++	Ext/ Ext	Axonal	moderate	Yes	Mild TCC, cortical and cerebellar atrophy, no TCC or WM abnormalities	mild axonal neuropathy	spastic dysartria, Jerky pursuit, hypometric saccades. Slow tonge
Family 2 England	Parents not related	Compound heterozygous. c.C5623T/p.Q1875X (exon 30) +c.7155- 7156 insAAAC/ p.K2386Qfs X2393 (exon40)	27 (dragging her left leg)	34	Mild	Mild spastic gait. No stick	No	++	Ext/ Ext	Mild vibration loss	Mild	No	TCC with white matter abnormalities	No	Hypometric saccades
Family 3 England	Parents not related	Compound heterozygous. c.2834+1G>T (exon 15) and c.6754+4insTG (exon 36)	13 (walking)	18	Mild	Mild spastic gait. No stick	Mild	++	Ext/ Ext	No	Mild	No	TCC with white matter abnormalities	Normal	Hypometric saccades, poor upgaze, spastic dysarthria, slow tongue
Family 4 India	Parents first cousins	Sequence variant p.A59V of unknown significance. Identified as a heterozygote in one control.	13 (walking)	24	Severe	Wheelchair	Severe	+++	Ext/ Ext	Axonal	Mild	Severe	No/borderline TCC, Cortical and cerebellar atrophy	Axonal neuroapthy	Severe dystonia in the limbs and torticollis, spastic dysarthria, ophthalmoplegia, hypometric saccades. Slow tonge
Affected cousin	Parents first cousins	N/A Died in early childhood	Early childhood	N/A	severe	Wheelchair	Severe	N/A	N/A	N/A	Development delay	N/A	Not done	Not done	Died young
Affected cousin	Parents first cousins	N/A	2	3	Severe	Wheelchair	Severe	++	Ext/ Ext	No	Development delay	N/A	CT head normal age 3	Normal	Rotatory nystagmus and severe tremor

TCC = thin corpus callosum. N/A = not available. Ext = extensor. For reflexes, + = normal, ++ = brisk, +++ = very brisk often with clonus.