. Author manuscript; available in PMC: 2020 May 8.

Published in final edited form as: Am J Med Genet B Neuropsychiatr Genet. 2017 Jan;174(1):36–69. doi: 10.1002/ajmg.b.32505

Table 4.

Demographic and clinical characteristics of UCSF OPRI cohort

Mutations		5-OPRI	6-OPRI					8-OPRI	9-OPRI
Symptomatic cases referred		4	5					1	1
Symptomatic cases evaluated at UCSF		1	2					0	1
Number of families with symptomatic cases		3	2					1	1
129 polymorphism		MM	MM^*	MV^*^{^}	Cis M^*^{^}	VV^#	cis V^#	MM	VV
PrP^Sc type		N/A	N/A	N/A	N/A	N/A	N/A	N/A	1
sex		M	M	M	M	F	F	M	M
Age at onset (Y)		39	36	37	32	51	47	22	47
Onset to UCSF evaluation (Mo)		120 Mo	7 Mo	50 Mo	N/A	N/A	N/A	N/A	21 Mo
Duration of Disease		>19 Y	>3 Y^**	5 Y 9 Mo	~ 9 Y	5 Mo	10 Mo	>5 Y^**	21 Mo
Sex		M	M	M	M	F	F	M	M
First symptom category		Visuosp	Cog Cb	Const, Behav, Cog	Cog	Cog	Sens, Cb	Const, Behav	Visuosp, Cog
Brain MRI (time after the onset)		Diff C atrophy (10 Y)	Diff C atrophy (7 Mo)	Diff C atrophy (2 Mo)	Diff C atrophy (N/A)	Diff C, Cb, and BS atrophy (3 Mo)	P, Fr, Cb atrophy (10 Mo)	C atrophy (5 Y)	C ribboning, Mild diff C atrophy (19 M)
EEG		Normal (@ 10.5 Y)	N/A	N/A	N/A	Bkgnd slowing	norm	N/A	Irregular triphasic waves
CSF	14-3-3	N/A	Neg	Neg	N/A	N/A	N/A	N/A	N/A
	NSE	N/A	Neg	Neg	N/A	N/A	N/A	N/A	Pos
	t-tau	N/A	Neg	Neg	N/A	N/A	N/A	N/A	Pos
Neuropathology		N/A	N/A	JCD	JCD	JCD	JCD	N/A	Mixed JCD & GSS

three patients from one family,

two patients from another family.

^{^}

were published in (Boxer et al., 2007)

^**

Some patients still alive, so duration at last follow-up.

Abbreviations: @ = at; behave = behavior; bkgrnd = background; BS = brain stem; C = cortical; Cb = cerebellar; Cog = cognitive impairment; diff = diffuse; dysfx = dysfunction; Fr = frontal; F/E = frontal executive; Mo = months; N/A = not available; Neg = negative; norm = normal; P = parietal; Pos = positive; visuosp = visuospatial; Y = years