Table 2.
Clinical characteristics of fourteen patients with GD-T1 with abnormality of saccadic velocity in three or more measures
| Age | Age Dx | Age at ERT | Genotype | Spleen | Gaucher related Co-morbidities | Number of velocity measures abnormal | Direction of abnormality | Clinical saccade abnormality |
|---|---|---|---|---|---|---|---|---|
| 53 | 5 | 32 | R463C/RecNcil | S | Liver disease | 4 | Left & right | Y |
| 49 | 19 | 37 | R463C/RecNcil | S | 6 | All | Y | |
| 55 | 47 | 47 | R262G/RecNcil | Abnormal neurology | 4 | Left, right, down | Y | |
| 48 | 4 | 25 | R463C/IVS2+1 | S | Liver disease & Lung disease | 6 | Left, right, down | Y |
| 77 | 56 | 57 | R463C/L444P | Lung disease | 6 | Left, right, up | Y | |
| 15 | 8 | 8 | R463C/R257Q | 8 | All | |||
| 70 | 6 | 54 | R463C/G377R | S | Lung disease | 5 | All | Y |
| 64 | 6 | 46 | R463C/RecNcil | S | Cognitive Impairment | 6 | Left, right, down | Y |
| 18 | 3 | 3 | R463C/N462K | 4 | Left & down | |||
| 73 | 48 | 56 | R463C/L444P | S | 6 | All | Y | |
| 31 | 5 | 6 | R463C/L444P | Liver disease & subtle ataxia | 8 | All | Y | |
| 43 | 2 | 27 | R463C/L444P | S | 8 | All | ||
| 16 | 3 | 3 | R463C/RecNcil | 3 | Right & down | |||
| 12 | 11mo | 1 | H311R/R359Q | Liver disease; lung disease & lymphadenopathy | 4 | Left & right | Y |
Dx: Diagnosis; Age given in years; Genotype: Traditional GBA1 variant nomenclature used; R463C (p.Arg502Cys); RecNcil (recombinant consisting of multiple pseudo-gene derived point mutations); L444P (p.Leu483Pro); IVS2+1 (Splice site variant c.115+1G > A); G377R (p.Gly416Arg); R262G (p.Arg301Gly); R257Q (p.Arg296Gln); N462K (p.Asn501Lys)
S, splenectomised; Y, yes/present
*Genotype documented but not confirmed