Table 4 Clinical features of autosomal dominant SPG30
From: KIF1A-related autosomal dominant spastic paraplegias (SPG30) in Russian families
Ref. | IC | Gen der | Age at: | Phenotype P / C | SP | Walking at age of examination | Ataxia | Neuro- pathy | Development delay/mental deficiency | Microcephaly | Epilepsy | Optic atrophy | MRI | Other features | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Exami-nation | SP onset | ||||||||||||||
[6] | 1 | F | 3.5 | N/A | C | + | No walking | N/A | N/A | Severe | N/A | – | – | I | |
[7] | 1 | F | 2 | N/A | C | + | No walking | N/A | – | Severe | + | – | – | I | |
2 | M | 6 | N/A | C | +/− | No walking | N/A | – | Severe | + | + | + | I, II | ||
3 | F | 2 | N/A | C | + | No walking | N/A | – | Severe | – | – | – | I | ||
4 | F | 1.5 | N/A | C | + | No walking | N/A | – | Severe | + | – | – | N/A | ||
5 | M | 16 | N/A | C | + | Aided | + | + | Severe | + | + | + | I, II | ||
6 | F | 7 | N/A | C | + | Aided | + | – | Severe | + | – | + | N/A | ||
[8] | 1 | F | 10 | Infancy | C | + | Unaided | – | – | Moderate | – | – | + | I, II | |
2 | F | 2.5 | Infancy | C | + | No walking | + | – | Severe | + | + | + | I | ||
3 | F | 24 | 8 mo | C | + | Unaided | N/A | + | Mild | – | – § | – | I | ||
4 | M | 13 | 2.5 | C | + | Unaided | – | + | Mild | – | – | – | N | ||
5 | F | 2.5 | 5 mo | C | + | No walking | – | – | Moderate | + | – | + | II | ||
6 | M | 4 | Infancy | C | + | No walking | – | + | Mild | + | + | + | I, II | ||
7 | M | 8 | 20 | C | + | Aided | – | – | Moderate | – | – § | – | I | ||
8 | F | † 4 y | Congen | C | – | No walking | – | + | Severe | + | + | + | I, II | ||
9 | F | † 2 y | Congen | C | + | No walking | N/A | + | Severe | – | N/A | + | I, II | ||
10 | F | 10 | 1 y | C | + | Aided | + | + | Mild | – | – | + | I | ||
11–12 МZ | M | 14 | 1 y | C | + | Unaided | – | + | Mild/ Moderate | – | – | – | N | ||
13 | F | 15 | 1.5 | C | + | Unaided | + | + | Mild | – | – | – | I | ||
14 | F | 14 | 1.5 | C | + | Aided | – | – | Moderate | – | – | + | N | ||
[9] | 1 | M | 8 | 5 | C | + | Unaided | + | – | Mild | – | – | + | I | |
2 | F | 27 | 1.5 | C | + | Aided | + | + | Mild | – | – | + | I | ||
3 | F | 9 | 8 mo | C | + | Aided | – | + | Severe | – | – | + | I, IV | ||
4 | M | 33 | 7 mo | C | + | No walking | + | + | Severe | – | + | + | I, II | ||
5 | F | 8 | 10 mo | C | +/− | Unaided | + | – | Mild | – | – | – | I | ||
[10] | 1 | F | 22 | < 2 | C | +++ | Aided | – | + | – | – | – | – | N | |
2* | M | 10 | 1 | C | ++= | Aided | – | – | Mild | – | – | – | N | ||
3 | M | 52 | 22 | P | ++ | Unaided | – | – | – | – | – | – | N | ||
4* | F | 68 | 63 | C | ++ | Unaided | + | – | – | – | – | – | IV | ||
[11] | 1 | M | 14 | 6 mo | C | ++ | No walking | – | + | Moderate | + | + | + | I, III | |
2. | M | 6 | Congen | C | ++ | No walking | – | + | Moderate | + | – | + | I | ||
[12] | 1* | F | 7 | Congen | C | + | Unaided | – | – | Moderate | – | – | + | III, IV | |
]13] | 1* | M | 9 | 2.5 | P? | + | Unaided | – | – | Borderline | – | – § | – | N | |
[14] | 1* | F | 47 | 12 | P | ++ | Aided | – | – | – | – | – | – | N | |
2* | M | 61 | 10 | P | ++ | Aided | – | – | – | – | – | – | N | ||
[16] | 1* | M | 56 | < 1 | P | + | Unaided | – | – | – | – | – | – | N/A | |
2* | M | 14 | 9 | P | + | Unaided | – | – | – | – | – | – | N | ||
3 * | F | 17 | 13 | C? | + | Unaided | – | – | +/− | – | – | – | N/A | ||
4 * | M | 53 | < 10 | P | + | Aided | – | – | – | – | – | – | N/A | ||
5 | M | 38 | 21 | P | + | Unaided | – | – | – | – | – | – | N | ||
6 | M | 54 | 18 | P | + | With aid | – | – | – | – | – | – | N | ||
7* | M | 64 | 50 | C? | + | With aid | – | – | +/− | – | – | – | N/A | ||
8* | M | 50 | <,10 | P | + | With aid | – | – | – | – | – | – | N/A | ||
9* | M | 62 | 57 | P | + | Unaided | – | – | – | – | – | – | N | ||
10 | M | 49 | <,10 | P | + | Unaided | – | – | – | – | – | – | N/A | ||
11* | F | 18 | <,10 | P | + | Unaided | – | – | – | – | – | – | N | ||
12 | F | 4 | < 1 | P | + | Aided | – | – | – | – | – | – | III | ||
13 | M | 3 | 1 | P | + | Unaided | – | – | – | – | – | – | III | ||
14 * | M | 54 | <,10 | P | + | Unaided | – | – | – | – | – | – | N/A | ||
15* | M | 28 | ~ 20 | P | + | Unaided | – | – | – | – | – | – | N | ||
16 * | M | 60 | ~ 30 | P | + | Unaided | – | – | – | – | – | – | N | ||
17 * | F | 18 | 1 | P | + | Unaided | – | – | – | – | – | – | N | ||
18 | F | 56 | 46 | P | + | Unaided | – | – | – | – | – | – | N | ||
19 | F | 51 | 10 | P | + | Unaided | – | – | – | – | – | – | N | ||
20* | F | 66 | <,10 | P | + | Unaided | – | – | – | – | – | – | N/A | ||
21 | M | 12 | 2 | P | + | Unaided | – | – | – | – | – | – | N/A | ||
22* | M | 22 | 2 | P | + | Unaided | – | – | – | – | – | – | N/A | ||
23 | M | 20 | < 5 | P | + | Unaided | – | – | – | – | – | – | N | ||
24 | M | 6/5 | 1 | C? | + | Unaided | – | – | Mild | – | – | – | N | ||
[19] | 1* | M | 61 | 3 | P | ++ | No walking | – | – | – | – | – | – | N | |
[20] | 1 | M | 6 mo | Congen | C | + | No walking | – | + | Mild | N/A | + | + | I, III | |
2 | F | 21 mo | Congen | C | + | No walking | – | + | Mild | N/A | + | – | I, II, III | ||
3 | F | 11 | 1 | C | + | Aided | + | N/A | N/A | N/A | + | + | I, IV | ||
4 | F | 9 | 6 mo | C | + | Aided | – | – | – | N/A | + | – | I, III | ||
5A-B MZ | F | 21 | < 1 | C | – | Aided | – | + | Mild | N/A | + | + | I, III, IV | ||
6 | M | 11 | Antenat | C | + | Unaided | + | – | – | N/A | – | + | I, III | ||
7 | M | 12 | 9 mo | C | +/− | Unaided | – | + | Mild | N/A | + | – | III | ||
8* | F | 10 | 1.5 | C | + | Unaided. | – | – | – | N/A | – | – | N | ||
9 | M | 11 | < 1 | C | +/− | N/A | – | + | Mild | N/A | – | – | SAC | ||
10 | F | 10 | 2nd year | C | + | Unaided | – | + | Mild | N/A | – | – | N | ||
[21] | 1 | M | 13 | 1 | C | + mild | Unaided | – | + | – | – | – | – | N | |
[22] | 1* | M | N/A | < 3 mo | P | ++ | N/A | – | – | – | – | – | – | N | |
2* | M | N/A | < 20 | P | ++ | N/A | – | – | – | – | – | – | N | ||
[23] | 1* | F | N/A | Child- hood | C | ++ | N/A | N/A | N/A | Mild | N/A | N/A | – | N/A | |
[24] | 1* | M | 20 | 1 | C | + | Unaided | + | + | Mild | – | – | – | I | |
[25] | 1 | M | 18 | Infan | C | + | Aided | – | – | Severe | + | + | – | N | |
2 | F | 10 | 9 mo | C | + | No walking | + | – | Severe | – | – | N/A | I, II | ||
3 | F | 14 | 4 mo | C | + | Aided | – | + | Moderate | – | – | + | N | ||
4 | F | 15 | 11 mo | C | + | Aided | – | – | Moderate | – | – | – | I | ||
[26] | 1 | M | 20 | 18 | P? | ++ | Unaided | – | +/− | – | – | – | – | N/A | |
[27] | 1 | M | 17 | 12 | C | ++ | Unaided | – | – | – | – | + | + | I, III | |
[28] | 1 | M | 8 | 8 mo | C | ++ | No walking | N/A | – | Severe | + | + | + | I, III, HH | |
[29] | 1 | F | 47 | 12 | C | + | Unaided | – | + | Moderate | – | + | – | I, II | |
[30] | 1 | M | 4 | N/A | C | + | No walking | N/A | + | Severe | – | + | + | I, II, III | |
[31] | 1 | M | 19 | 1.5 | C | ++ | Unaided | +/− | + | Mild | + | – | + | I | |
[32] | 1 | M | 7 | 6 mo | C | + | Unaided | +/− | + | Mild | – | – | – | I | |