Table 1 Characteristics of the published patients with SGCE mutations.
| Nucleotide or amino acid change | Localis‐ ation in gene | Affected (n) | Origin | Age at onset (year)* | Myoclonus (distribution) | Dystonia (distribution) | Alcohol sensitivity | References |
|---|---|---|---|---|---|---|---|---|
| Truncating mutations | ||||||||
| p. 97R>X | Exon 3 | 3 | German | 3.5 | NK | H, N | NK | Zimprich et al3 |
| p. 97R>X | Exon 3 | 1 | NK | 0.3 | A, L, N | N | Yes | Valente et al12 |
| p. 97R>X | Exon 3 | 1 | NK | 3 | A, N | A, N | No | Valente et al12 |
| p.102R>X | Exon 3 | 7 | German | 4 | NK | H, N | NK | Zimprich et al3 |
| p.102R>X | Exon 3 | 8 | German | 8 | NK | N | NK | Zimprich et al3 |
| p.102R>X | Exon 3 | 5 | German | 5–18 | A, N, T | H, N | Yes | Asmus et al13 |
| p.102R>X | Exon 3 | 3 | German | 2–6 | A, L, N, T | H, L | Yes | Asmus et al13 |
| p.102R>X | Exon 3 | 3 | French | 0.5–6 | A, F, N, T | A, H, N | Yes | Asmus et al13 |
| p.102R>X | Exon 3 | 13 | Canadian | Childhood | A, F, N | N | Yes | Han et al14 |
| p.102R>X | Exon 3 | 2 | Canadian | 1–14 | A, N | None | NK | Han et al14 |
| p.102R>X | Exon 3 | 1 | German | 7 | A | H | Yes | Hedrich et al15 |
| p.102R>X | Exon 3 | 1 | German | 13 | A, N | Segmental | NK | Hedrich et al15 |
| p.286Q>X | Exon 7 | 3 | French | Childhood | A, N, T | A, L, T | NK | Asmus et al13 |
| p.372R>X | Exon 9 | 1 | NK | 3 | A, L, N, T | A, L, N | Yes | Valente et al12 |
| p.372R>X | Exon 9 | 1 | NK | 11 | A, L, N | A, L | Yes | Valente et al12 |
| Missense mutations | ||||||||
| p.60H>P | Exon 2 | 1 | German | 7 | A, F, T | N | Yes | Hedrich et al15 |
| p.60H>P | Exon 2 | 5 | Serbian | 7–15 | A, H, L | T, H, L; none for 2 | Yes | Schule et al16 |
| p.196L>R | Exon 5 | 2 | German/ | 2–10 | A, F, L, V | A, H | Yes | Klein et al17 |
| English/Welsh | ||||||||
| Splicing mutations | ||||||||
| c.233−1G>A | Intron 2 | 3 | French | 3–10 | A, N | G | Yes | Asmus et al13 |
| c.391−3T>C | Intron 3 | 1 | NK | 30 | A, N | None | NK | Valente et al12 |
| c.463+6T>C | Intron 4 | 1 | United Kingdom | 3 | A, N, T | A, L | Yes | Asmus et al13 |
| c.662+5G>A | Intron 5 | 3 | German | 1.5–12 | N, A or G | H, N | Yes | Asmus et al13 |
| c.825+1G>A | Intron 6 | 4 | German | 4 | NK | N | Yes | Zimprich et al3 |
| Deletions | ||||||||
| c.164delG | Exon 2 | 5 | Welsh/Czech | <6 | A, F, N | N | Yes | Hedrich et al15 |
| c.276delG | Exon 3 | 1 | German | 4 | A, L, N | None | Yes | Asmus et al13 |
| c.391_405del | Exon 4 | 4 | German | 7 | NK | N | NK | Zimprich et al3 |
| c.402–405del | Exon 4 | 6 | French | 2–30 | NK | A, H, L | Yes | Marechal et al18 |
| c.483delA | Exon 5 | 11 | German | 4–12 | NK | H, N | Yes | Zimprich et al3 |
| c.564_576del | Exon 5 | 1 | NK | 2 | A, N | A, N | Partial | Valente et al12 |
| c.734_737delAATT | Exon 6 | 2 | French | 8–20 | A, T | N | Yes | Asmus et al13 |
| c.832_836delAAAAC | Exon 7 | 6 | Canadian | Childhood | A, F, L, N | A | Yes | Han et al14 |
| c.835_839delACAAA | Exon 7 | 8 | German/ | 2–16 | A, F, H, L, T, V | A, L, N , T | NK | Klein et al17 |
| English/Welsh | ||||||||
| c.966delT | Exon 7 | 2 | German | 4–9.5 | NK | NK | NK | Muller et al11 |
| c.966delT | Exon 7 | 6 | Serbian | 4–15 | A, H, L | T, L; none for 2 | NK | Schule et al16 |
| c.974delC | Exon 7 | 9 | Danish | 1–4 | L, N, T, V | A, H, L | Yes | Hjermind et al19 |
| Insertions | ||||||||
| c.625insG | Exon 5 | 1 | German | 2 | NK | NK | NK | Muller et al11 |
| c.885insT | Exon 7 | 4 | German | 15–17 | A, F, H, N | N, T | NK | Foncke et al20 |
A, arm; F, face; G, generalised; H, hand; L, leg; N, neck; NK, not known; S, shoulders; T, trunk; V, voice.
*Range of age at onset. When only one value is given, it is the mean age at onset in the family.