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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