Table 1.
Reported cases of Sigmar1-related motor disease.
| Genotypea | Proteina | Ethnic Origin | Age at Onset | Distal Weaknessb |
Knee Jerksc |
Babinski Response |
Citation |
|---|---|---|---|---|---|---|---|
| C.151+1G>T | p.Gly31_Ala50del | Chinese | 9-12 yrs | + | +++ | + | 8 |
| C.151+1G>T | p.Gly31_Ala50del | Afghani | 10 yrs | + | +++ | + | 9 |
| c,194T>A | p.Leu65Gln | French/British | 3 yrs | + | +++ | + | 12 |
| c.238C>T | p.Gln80* | Omani | 13 mo – 11 yrs | + | +++ | + | 3 |
| c.247T>C/c.545T>C | p.Phe83Leu/p.Leu182Pro | German/French | 34 yrs | + | +++ | + | This report |
| c.283dupC | p.Leu95Profs*29 | Hispanic | 5 yrs | + | +++ | + | 14d |
| c.304G>C | p.Glu102Gln | Saudi | 1-2 yrs | + | ++++ | NA | 13d |
| c.412G>C | p.Glu138Gln | Italian | School age | + | +++ | + | 10 |
| c.448G>A | p.Glu150Lys | Italian | Infancy | + | +++ | + | 10 |
| c.500A>T | p.Asn167Ile | Jordani | 6-10 yrs | + | +++ | + | 1 |
| c.561_576del | p.Asp188Profs*69 | Portuguese | 4 yrs | + | − | − | 15 |
| c.505T>A/c.622C>T | p.Thr169Arg/p.Arg208Trp | Japanese | 80 yrs | + | +++ | + | 7d |
The table with 11 previous reported cases of SIGMAR1-related motor disease as well as our subject (bold) was adapted and extended from Nandhagopal 2017 [3]. Note that the two compound heterozygous individuals present significantly later in life compared with homozygous individuals.
a.
Homozygous unless otherwise denoted.
b.
+, present; −, absent
c.
−, absent/lost; +, sluggish; ++, normal; +++, brisk; ++++, exaggerated (with clonus). NA, not available.
d.
Initially reported as ALS.