Table 2 Clinical characteristics of patients with SACS variants
Family No. | SACS variant | Ethnical background | Current age (y)/sex | Age at onset (y) | First clinical sign | Current SARA | Cerebellar ataxia | Areflexia muscle tendon reflexes | Pyramidal features | Autonomic signs |
|---|---|---|---|---|---|---|---|---|---|---|
patients with 2 likely pathogenic SACS variants | ||||||||||
#1 index | p.[Leu3102Phefs*8];[Leu3102Phefs*8] | Turkey | 31/f | 1 | delayed motor development | 12 | Dysarthria, nystagmus, dysmetria UE | ATR | spasticity LE>UE; Bab +/+ | urge incontinence urine |
#1 sister | see above | 30/f | 11 | gait disturbance | 10 | Nystagmus, dysmetria UE+LE | ATR | spasticity LE>UE; Bab +/+ | urge incontinence urine | |
#2 | p.[Arg728*];[Phe4352Leufs*11] | German | 38/f | 6 | gait disturbance | 22 | nystagmus, dysmetria UE+LE | ATR | spasticity, Bab +/+ | urge incontinence urine |
#3 index | p.[Gly1257*]; [Lys2862*] | Greek | 40/m | 18 | gait disturbance | 22 | nystagmus, dysarthria, dysmetria UE+LE | - | spasticity, Bab +/+ | urge incontinence urine |
#3 sister | see above | 36/f | 15 | gait disturbance | n.d. | n.k. | n.k. | n.k. | urge incontinence urine | |
#4 index | p.[Ile3848del]; [Ile3848del] | Turkey | 13/m | 3 | generalized muscle weakness, pes planus | 2 | - | - | none; Bab -/- | - |
#4 brother | see above | 6/m | pes planus | 1 | - | - | none; Bab -/- | - | ||
#5; index | p.[Leu796Tyrfs*13];[L3995dup] | German | 27/f | 2 | gait disturbance | 25 | nystagmus, dysmetria UE+LE | ATR | spasticity, Bab +/+ | urge incontinence urine & faeces |
#5, sister | see above | 25/f | 2 | gait disturbance | n.a. | Dysarthria, dysmetria LE > UE | ATR | none, Bab -/- | urge incontinence urine | |
#6 | p.[Arg3875His]; [Leu549_Leu552del]; [Ser4513Asn] | Macedonia | 30/m | 1 | gait disturbance | 9 | dysmetria UE+LE - | ATR | spasticity, Bab+/+ | - |
#7 | p.[Val1849Serfs*48]; [Tyr4201*] | German | 50/f | 28 | gait disturbance | n.a. | nystagmus, dysarthria, dysmetria UE+ UE | ATR | spasticity; Bab +/+ | urge incontinence |
#8 | p.[Arg2426Pro]; [Tyr2975Phefs*29] | German | 6/m | 2 | gait disturbance | 9 | nystagmus, dysarthria, dysmetria UE+LE | - | none; Bab -/- | incontinence |
#9 | p.[Gln1652*]; [Gln1709*] | German | 41/m | 2 | gait disturbance | n.a. | nystagmus, dysarthria, dysmetria UE+LE | ATR | spasticity; Bab -/- | urge incontinence, erectile dysfunction |
patients with 2 SACS variants of unknown significance | ||||||||||
#10 | p.[Thr458Ile]; [Thr458Ile] | Turkey | 44/m | 30 | gait disturbance | 8 | nystagmus, slight dysmetria UE + LE, no dysarthria | - | none; Bab -/- | urge incontinence |
#11 | p.[Thr458Ile]; [Val995Phe] | German | 43/m | 20 | gait ataxia | 21 | cerebellar oculomotor disturbance, dysarthria, dysphagia, intention tremor, dysmetria UE+LE | - | spasticity; Bab+/+ | - |