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Table 2 Detailed clinical features of 25 probands with mutation detected by WES

From: Genetic spectrum and clinical features in a cohort of Chinese patients with autosomal recessive cerebellar ataxias

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
  1. F female, M male, AAO age at onset, DD disease duration, Hom homozygous, H horizontal, CP consanguineous parents, V vertical, NA not available, SMN sensorimotor neuropathy, EEG electroencephalogram
  2. A*: Thinning of the corpus callosum, bulky pons, bilateral pontine linear hypointense lesion and hyperintensities around the thalami