Table 1 Genetic and clinical features of AD SPG30 in 10 Russian families
From: KIF1A-related autosomal dominant spastic paraplegias (SPG30) in Russian families
Family, оrigin | KIF1A mutation | Ex-on | Familial /sporadic | Personally examined patients | Other patients | |||||
|---|---|---|---|---|---|---|---|---|---|---|
Family member | Age, y | Onset age, y | Pyramidal signs | Gate impairment | Additional signs | |||||
30–1 Russian | с.22G > A (Val18Met) | 2 | Familial | IC, F | 59 | 1 | ++ | +++ Aided since 55 y | Incontinence | Daughter-1: early onset, ambulant till death in 35 y daughter-2 & grandson – asymptomatic |
30–2 Russian | с.37С > T (p.Arg13Cys) de novo | 2 | Sporadic | IC, M | 7 | Congenital | ++ | +++ Unaided | MR, stereotypias, dysarthria, enuresis, obesity | – |
30–3 Russian | с.206C > T (p.Ser69Leu) de novo | 3 | Sporadic | IC, F | 33 | 2 | ++ | ++ Unaided | – | – |
30–4 Dargin | с.206C > T (p.Ser69Leu) | 3 | Familial | IC, F | 15 | 3 | +++ | ++ Unaided | – | Grandfather & 3 uncles – early onset, ambulant |
Father | 45 | Childhood | ++ | + Unaided | – | |||||
30–5 Tatar | с.220 T > C (p.Tyr74His) | 4 | Familial | IC, М | 5 | 4–5 | ++ | + Unaided | Uncle-1: early onset, ambulant; uncle-2 asymptomatic | |
Father | 36 | SS | +/− | +/− | – | |||||
30–6 Russian | с.499C > T (p.Arg167Cys) | 5 | Familial | IC М | 17 | 16, SS - 9 | ++ | – | – | |
Father | 43 | Childhood | ++ | – | ||||||
Grand-father | 74 | After 40 | ++ | Aided since 55 y till death | – | |||||
Aunt-1 | 50 | 45 | ++ | ++ | – | |||||
Aunt-2 | 47 | 18–20 | ++ | ++ | – | |||||
30–7 Tatar | c.607A > G (p.Arg203Gln) de novo | 6 | Sporadic | IC, М | 12 | Congenital | ++ | No walking | MR, microcephaly, microsomia, МRI N | – |
30–8 Russian | с.761G > A (p.Arg254Gln) | 7 | Familial | IC, F | 5 | 2–3 | ++ | + Unaided | – | Grandfather: impaired gate since youth, feet deformity |
Mother | 33 | Congenital | ++ | +++ Unaided | – | |||||
30–9 Russian- Serb | с.798 + 1G > T de novo | 8 | Sporadic | IC, М | 19 | 13 SS since 7 y | ++ | ++ Unaided | Mild cognitive deficiency; ASD? | – |
30–10 Russian | c.917A > G (p.Tyr306Cys) de novo | 11 | Sporadic | IC, F | 5 | Congenital | +/− | Mildly atactic, no spasticity Unaided | Mild mental & speech delay, cataract MRI: hypogenesia of corpus callosum | – |