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Table 1 Summary of clinical, biochemical and genetic patient data (n = 14)

From: Early co-occurrence of a neurologic-psychiatric disease pattern in Niemann-Pick type C disease: a retrospective Swiss cohort study

Patient Sex Age at diagnosis Age at start of treatment New symptoms under therapy Age at last visit Subtype Chitotriosidase Filipin staining Cholesterol esterification Bone marrow Genetics ( NPC1 )
1a* m 30 31 - 33 Juvenile Normal Clearly abnormal na Sea blue histiocytes, foam cells p.Arg978Cys/delX1-X6
1b* f 27 28 Mild Polyneuropathy 30 Adult 9.9 mU/ml (0.0–4.6) Clearly abnormal na na p.Arg978Cys/delX1-X6
1c* f 22 22 - 24 Adult Normal Clearly abnormal na na p.Arg978Cys/delX1-X6
2a* f 15 30 (− 32) - †32 Juvenile 8.2 mU/ml (0.0–4.6) Clearly abnormal Abnormal Sea blue histiocytes, foam cells p.Pro474Leu/p.Ile1094Thr
2b* m 19 29 - 35 Juvenile Normal Clearly abnormal na Sea blue histiocytes, foam cells p.Pro474Leu/p.Ile1094Thr
3a m 15 - - 15 Juvenile Normal Variant na na p.Ser940Leu/p.Pro1007Ala
3b f 10 - - 10 Juvenile Normal na na na p.Ser940Leu/p.Pro1007Ala
4a* m 18 29 Dysphagia 29 Juvenile 11.3 mU/ml (0.3–3.7) Clearly abnormal na Sea blue histiocytes, foam cells p.Ile1061Thr/p.Ile1061Thr
4b* m 16 27 Dysphagia, dystonia, seizures 27 Juvenile 4.4 mU/ml (0.3–3.7) Clearly abnormal na Sea blue histiocytes, foam cells p.Ile1061Thr/p.Ile1061Thr
5 m 2 3 VSGP 5 Late-infantile 24.5 mU/ml (0.0–1.03) Variant na Sea blue histiocytes, foam cells p.Ile1067Thr/p.Asp948Asn
6 m 7.5 - - †7.5 Late-infantile na Clearly abnormal na Foam cells c.1554-1009G > A (intron 9)/p.Tyr1081*
7 f 50 50 Dysphagia 51 Adult Normal Clearly abnormal na Sea blue histiocytes, foam cells p.Asp898Asn/ p.Pro1245Cysfs*12
8 f 23 24 - 25 Adult Normal Clearly abnormal na na na
9 f 15 - - †25 Juvenile na Clearly abnormal Abnormal na na
  1. na: not available; †deceased, *Patients included in [23]: 1a > 044, 1b > 042, 1c > 043, 2a > 020, 2b > 021, 4a > 018, 4b > 019.
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