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Table 1 Demographic, clinical and genetic data of SYNE1 and FA ataxia patients and healthy controls

From: Eye-tracking-aided characterization of saccades and antisaccades in SYNE1 ataxia patients: a pilot study

Patient code/Group name Age (years) Sex Mutation (cDNA) Protein change or variant type Age at onset (years) Gait ataxia Upper limb ataxia Lower limb ataxia Dys-arthria GEN UMN LMN PNP SARA Brain MRI Other sign/ disease
AT-04 Mean: 38.3 ± 3.40 (35–43) M c.8515_8516insA p.Met2839Asnfs*53 15  +  +  +   +  +   +  +  +   +  +  Y Y N Mild ASN 23.5 Cerebellar atrophy Delayed puberty, myoclonic jerks, myopia, strabism
c.11594_11595_insG p.Glu3866*
AT-05 F c.23146-2A > G Splicing 30  +  +  +   +  +   +  +  +   +  +  N Y N N 25 Cerebellar and cerebral cortical atrophy DM, HC, HT, obesity
AT-06 F c.23146-2A > G Splicing 14  +  +   +   +   +  N Y N MSMN 12 Cerebellar and cerebral cortical atrophy DM, HC, HT, obesity, pes cavus
FA group Mean: 41.5 ± 17.97 (16–60) 3 M, 3F Homozygous intronic GAA repeat repeat expansion Decreased frataxin expression Mean: 25.83 ± 16.64 (7–49)  +  + 5/6
 +  +  + 1/6
 + 4/6
 +  + 2/6
 + 1/6
 +  + 4/6
 +  +  + 1/6
 + 1/6
 +  + 4/6
 +  +  + 1/6
N 6/6 Y 5/6
N 1/6
Y 1/6
N 5/6
ASN 2/6
ASMN 1/6
NSP 2/6
N 1/6
Mean: 16 ± 6.5 (13–30.5)
HC group (ST) Mean: 40.0 ± 10.58 (28–59) 4 M, 8F             
HC group (AST) Mean: 40.25 ± 10.39 (28–59) 4 M, 8F             
  1.  + : mild, +  + : moderate: +  +  + : severe
  2. ASMN axonal sensorimotor polyneuropathy, ASN axonal sensory polyneuropathy, AST antisaccade task, DM diabetes mellitus, F female, GEN gaze-evoked nystagmus, HC hypercholesterolemia, HT hypertension, M male, MSMN mixed sensorimotor polyneuropathy, N not present, NSP not specified polyneuropathy, PNP polyneuropathy, SARA Scale for the Assessment and Rating of Ataxia, ST saccades task, UMN upper motor neuron involvement, Y present