Table 1.

Clinical and Biochemical Findings in Individuals with SLC30A10 Mutations

	Individual Code
	SIE-02	SIE-03	NIJ005	NIJ010	NIJ012
Gender	male	male	male	male	female
Age (last examination, years)	59	60	63	65	46 a
Presentation	neurologic	neurologic	neurologic	neurologic	neurologic/hepatic
Symptoms onset (years)	47	57	2	14	10
Blood Mn levelsb (unit of measurement); normal range	104.0 (mcg/l); 3.0–8.0	106(mcg/l); 3.0–8.0	231.6 (nmol/l); <32.8	2626 (nmol/l); 183–352	n.a.
Polycythemia	+	+	+	+	+
Dystonia	-	-	+	+	-
Parkinsonism	+	+	-	-	-
Hepatomegaly	+	+	-	-	+
Liver ultrasound	steatosis	hyperplasia	normal	normal	n.a.
Liver biopsy	n.a.	n.a.	n.a.	n.a.	cirrhosis
Liver serum parameters	normal	normal	normal	normal	n.a.
MRI-T1 abnormalities	+	+	+	+	n.a.
Unremarkable investigations	EEG, MRS, SPECT, EMG, ENG, HV serology	EEG, MRS, SPECT, HV serology

The following abbreviations are used: n.a., not available; EEG, electroencephalogram; MRS, brain magnetic resonance spectroscopy; EMG, electromyography; ENG, nerve conduction studies; HV serology, negative serology for hepatitis A, B, and C; SPECT, brain ([123I]-FP-CIT) single photon emission computed tomography of the dopamine transporter. A normal striatal uptake of this tracer indicates the integrity of the nigrostriatal dopaminergic pathways.

^aDeceased.

^bThe Mn levels were measured by different laboratories and in different times in the different individuals. Thus, different units of measurement and normal ranges are reported.