Baseline characteristics of four patients with neuronopathic Gaucher disease
| Patient (Gender/age (year)) | ERT (60 IU/kg q 2 weeks) | Neurological manifestations | GBA mutations* | |||||||
| Initiation age (year) | Duration (year) | Onset age (year) | Major features | Myoclonus (times/2wks) | Generalised seizure (times/2wks) | mSST score | Disease progression after ERT | Genotype 1 | Genotype 2 | |
| Pt1 (F/20.1) | 15.5 | 5.2 | 10.4 | Myoclonus, GTC Sz, ID | 4 | 2 | 14 | Yes |
c.680A>
G
(p.Asn227Ser(ASn188Ser)) | c.887G>A (p.Arg296Gln(Arg257Gln)) |
| Pt2 (F/17.3) | 12.1 | 5.2 | 10.1 | Myoclonus, GTC Sz, ID | 30 | 6 | 20 | Yes |
c.680A>
G
(p.Asn227Ser(ASn188Ser)) | c.887G>A (p.Arg296Gln(Arg257Gln)) |
| Pt3 (F/14.6) | 10.6 | 4 | 10.5 | Myoclonus, GTC Sz, ID | 0 | 10 | 8 | Yes |
c.680A>
G
(p.Asn227Ser(ASn188Ser)) | c.630delC (p.Val211Phefs(Phe171fsX21)) |
| Pt4 (F/17.2) | 3.2 | 14 | 13.1 | Myoclonus, ID | 0 | 2 | 7 | Yes |
c.754T>
A
(p.Phe252Ile(Phe213Ile)) | c.1448T>C (p.Leu483Pro(Leu444Pro)) |
Bold characters, genotypes amendable by ambroxol.
Bracket, traditional numbering.11
*GBA cDNA accession number NM_000157.3 and NP_000148.2.
ERT, enzyme replacement therapy;GTC Sz, Generalised tonic clonic seizure; ID, intellectual deterioration; mSST, modified severity scoring tool.