Table 1

Clinical findings of ten confirmed affected cases

Patient	Age at onset	Age at eval.	Reflexes		Plantar response	Distal sensory loss (P+T)		Distal sensory loss (Pr+V)		Ataxia	Additional information
Patient	Age at onset	Age at eval.	Arms	Legs	Plantar response	Arms	Legs	Arms	Legs	Ataxia	Additional information
↓↓, diminished; 0, abolished; (+), mild; (++), moderate; (+++), severe; EMG, electromyography; eval., evaluation; MRI, magnetic resonance imaging; NA, not applicable; NCS, nerve conduction studies; P, pain; Pr, proprioception; SSEP, somatosensory evoked potentials; T, temperature; V, vibration.
IV:4	?	29	↓↓	0	Flexor	+	+	None	None	None
IV:8	?	34	↓↓	0	Flexor	None	None	None	None	None
IV:1	35	38	↓↓	0	Flexor	+	++	None	+	None
IV:6	28	42	↓↓	0	Extensor	++	+++	None	+++	++
III:5	45	55	0	0	Triple flexion	++	+++	+	+++	NA	Jerky saccades, paraplegia, normal MRI and NCS
III:3	35	58	↓↓	0	Flexor	+	++	None	+++	++	Normal MRI and NCS
III:9	?	61	↓↓	0	Flexor	+	++	None	+	+
III:7	55	65	0	0	Flexor	+	+++	+	+++	+++	Normal MRI and NCS
III:14	?	65	Normal		Flexor	None	+	None	+++	+	Normal MRI
III:12	50	67	↓↓	0	Extensor	+	++	None	+++	+++	Jerky saccades, normal MRI and NCS