Case no./sex | AAO/DD (years) | Family history | Gene | Disease | Variants | Initial symptom | Ataxia | Dysarthria | Nystagmus | Additional phenotype | Imaging |
---|---|---|---|---|---|---|---|---|---|---|---|
1/M | 1/2 | Sporadic | SACS | ARSACS | p.K3646fs, chr13:23490196-24866656 del | Gait disturbance | + | − | – | SMN, abnormality of the dentition | Normal |
2/M | 1/30 | Sporadic | SACS | ARSACS | p.F2667S, p.F3562fs | Gait disturbance | + | + | H | SMN, spasticity, pes cavus, mild intellectual disability, saccadic pursuit, muscle atrophy and weakness of upper and lower limbs, hearing loss of right ear | Brain and cerebellum atrophy, A* |
3/F | 1/20 | Affected sister | SACS | ARSACS | p.R2932fs (Hom) | Gait disturbance | + | + | – | SMN, spasticity, pes cavus | Cerebellum atrophy, A* |
4/M | 4/22 | Sporadic | SACS | ARSACS | p.D2634A, p.3773_3774del | Gait disturbance | + | + | H | SMN, spasticity, pes cavus, epilepsy, flexion deformity of fingers, weakness of lower limb | Cerebellum atrophy, craniocerebral dysplasia, A* |
5/M | 11/26 | CP | SACS | ARSACS | p.V2601D (Hom) | Gait disturbance | + | + | H | SMN, sensorineural hearing loss of left ear, pes cavus, weakness of lower limb | Cerebellum atrophy, A* |
6/M | 39/7 | CP | SACS | ARSACS | p.3758_3759 del (Hom) | Gait disturbance | + | − | – | SMN, weakness of limbs, muscle atrophy of lower limb | Cerebellum atrophy, A* |
7/M | 9/20 | Sporadic | SYNE1 | SCAR8 | p.K1094X, p.E5273fs | Gait disturbance | + | + | H | Psychiatric symptoms, limited abduction and supraduction of eyes, myoclonic jerks | Cerebellar atrophy |
8/M | 19/20 | Affected brother | SYNE1 | SCAR8 | p.E3053fs (Hom) | Gait disturbance | + | − | – | Dysphagia | NA |
9/F | 21/4 | Sporadic | SYNE1 | SCAR8 | p.L6946fs, c.23765 + 1G > A | Gait disturbance | + | + | H | SMN, tremor, dizziness, pes cavus, mental retardation, ankylosing spondylitis | Cerebellar atrophy |
10/F | 25/0.1 | Sporadic | SYNE1 | SCAR8 | c.909 + 1G > A, p.R3479X | Gait disturbance | + | − | H | Sensorineural hearing loss | Cerebellar atrophy |
11/F | 53/4 | Affected brother | SYNE1 | SCAR8 | p.R85X, p.H5844fs | Gait disturbance | + | + | – | Dysphagia, SMN | Cerebellar atrophy |
12/M | 2/5 | Sporadic | ADCK3 | SCAR9 | p.R410X (Hom) | Gait disturbance | + | + | NA | – | Cerebellar atrophy |
13/M | 9/2 | Sporadic | ADCK3 | SCAR9 | p.R271H, p.R301W | Gait disturbance | + | + | NA | Reduced dexterity of hands, cognitive impair | Cerebellar atrophy |
14/M | 14/3 | Sporadic | ADCK3 | SCAR9 | p.R598H, p.S616fs | Hand shake uncontrollably | + | − | NA | Both hands and head shake uncontrollably | Brainstem, cerebellar atrophy |
15/M | 24/2 | Sporadic | ADCK3 | SCAR9 | p.S616fs (Hom) | Hand shake uncontrollably | + | + | – | Both hands and head shake uncontrollably, dysphagia, SMN | Cerebellar atrophy |
16/F | 32/20 | Affected sister | ADCK3 | SCAR9 | p.L320fs (Hom) | Gait disturbance | + | + | H | Right common peroneal neuropathy, cognitive impair, incomplete ptosis of left eyelid | Cerebellar atrophy |
17/M | 18/2 | Sporadic | SETX | AOA2 | p.C43Y, p.A1608fs | Gait disturbance | + | + | H | Postural tremor of the limbs, tongue muscle tremors, pes cavus, SMN, AFP elevation | Cerebellar atrophy |
18/F | 18/0.5 | Sporadic | SETX | AOA2 | p.F1756S, p.V2337fs | Gait disturbance | + | + | H | Head shakes uncontrollably, dysphagia, pollakiuria, SMN, AFP elevation | Cerebellar atrophy |
19/F | 21/10 | Sporadic | SETX | AOA2 | p.Y2455C (Hom) | Diplopia | + | − | H, V | SMN, head shake uncontrollably, reduced dexterity of hands, esotropia of the left eye, SMN, AFP elevation | Cerebellar atrophy |
20/F | 35/8 | CP | ANO10 | SCAR10 | p.D45fs (Hom) | Dizziness | + | + | H | Diplopia, dysphagia, SMN | Cerebellar atrophy |
21/M | 7/10 | Sporadic | SPTBN2 | SCAR14 | p.R25C, p.G208R | Slurred speech | + | + | – | Sensorineural hearing loss, intellectual disability | Normal |
22/F | 21/11 | Sporadic | STUB1 | SCAR16 | p.K145Q, p.K145del | Psychiatric symptoms | + | + | H | Depression | Cerebellar atrophy |
23/F | 8/4 | Sporadic | TTPA | AVED | p.D185Y (Hom) | Gait disturbance | + | + | H | Both hands and head shake uncontrollably, SMN | Cerebellar atrophy |
24/F | 12/5 | Affected brother | ATM | AT | p.S974fs, p.S2168L | Psychiatric symptoms | + | + | – | Dizziness, head shake uncontrollably, autonomic dysfunction, scoliosis, pes cavus | NA |
25/M | 8/8 | Sporadic | KIF1C | SPAX2 | p.G885fs (Hom) | Paroxysmal headaches | + | + | – | Limbs shake uncontrollably, voice tremble, abnormal EEG | Myelin dysplastic |