Table 1

Clinical data on patients with NP-C in the study

Patient/sex		Age studied (y)/onset of neurological disease		Clinical findings/clinical stage⁴	MRI findings
Patient/sex		Age studied (y)/onset of neurological disease		Clinical findings/clinical stage⁴	Brain atrophy	White matter hyperintensity
1/F	10/8	VSNGP visual spatial perception abnormality, A/1	Absent	Absent
2/F	17/NR	Slow downgaze saccades, A/0	Absent	Absent
3/M	6/1	VSNGP, spasticity weakness, ataxia, dysarthria, IQ:53, AWA/3	Absent	Mild
4/M	32/15	VSNGP, speech apraxia, ataxia, dystonia, AWA/3	Moderate cerebral and cerebellar	Marked
5/M	22/8	Severe dystonia, anarthria, dysphagia, A with support and mild-to-moderate dementia/3	Mild cerebral and cerebellar	Mild
6/M	39/18	VSNGP, dysarthria, ataxia, mild dystonia, A with support IQ:68, language, visuomotor deficit/3	Mild cerebral	Absent
7/M	20/6	VSNGP, moderate dystonia, paranoid delusions, A, mild to moderate dementia/2	Mild cerebral	Mild
8/M	25/18	VSNGP, dystonia, dysarthria, dysphagia, ataxia, AWA, IQ:65, deficient language and visuomotor function/3	Moderate cerebellar	Absent
9/F	20/11	VSNGP, mild dysarthria, perceptual skills)/2	Absent	Absent
10/F	15/6	Complete quadriparesis, opthalmoparesis responsiveness, NA/4	Moderate	Marked

A=ambulatory; NA=non-ambulatory; AWA=ambulatory with assistance; NR=not relevant; VSNGP=vertical supranuclear gaze palsy.