Table 1.

Results from cerebrospinal fluid (CSF) analysis of the proband (III:1): The concentration of CSF albumin was elevated in absolute value and when compared to serum-albumin concentration. CSF cell counts were normal. There were no oligoclonal bands after isoelectric focusing and no intrathecal production of IgG. CSF-light-chain neurofilament protein (NFL) concentration was normal at age 45 but slightly elevated at age 46.5, indicating neuronal degeneration. CSF-tau protein, phospho-tau, beta-amyloid, glial fibrillary acidic protein (GFAP) and S-100-protein were within normal limits. However, CSF-beta-amyloid and CSF-GFAP were nearer to the reference range boundaries at age 46.5 when disease had progressed.

In II:4, CSF total protein was determined instead of CSF albumin, due to different laboratory routines at the time of analysis. In all samples, CSF protein was elevated (0.51g/l to 1.03 g/l; reference 0.15-0.45 g/l) as was the number of CSF mononuclear cells (6-17 cells/mm³; reference <5 cells/mm³) (data not shown in table 1).

S, serum; n.d., not determined. Bold print and asterisks (*) identify values outside of the laboratory's reference range.

	unit	45 years	46,5 years	normal range
CSF-albumin	g/l	0.67*	0.74*	0.07-0.33
S-albumin to CSF-albumin rate		0.017*	0.019*	0.0021-0.0095
CSF-tau	ng/l	150	140	<400
CSF-phospo-tau	ng/l	24	24	< 60
CSF-beta-amyloid	ng/l	620	480	>450
CSF-NFL	ng/l	<250	400*	<250
CSF-GFAP	ng/l	420	590	<750
CSF-S-100	μg/l	n.d.	0,16	<1,7