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Table 1 Patients and controls whose skin fibroblasts were studied

From: Directly converted patient-specific induced neurons mirror the neuropathology of FUS with disrupted nuclear localization in amyotrophic lateral sclerosis

Characteristic

ID

MND

Sex

Exon

FUS genotype

Age at biopsy, yr

Age of onset, yr

Familial history

Site of onset

ALSFRS-R

delta-FS

Survival, mo

Autopsy

ALS-FUS

HS374

777

M

15

Q519Ea

34

34

Yes

Limb

46

0.10

>61 c

N/A

 

HS131

402

F

14

G504Wfs*12b

34

31

No

Limb

36

0.92

46

Yes

 

HS197

502

F

14

R495*b

31

27

No

Bulbar

23

1.92

54

N/A

Sporadic ALS

HS250

551

M

N/A

N/A

N/A

57

No

N/A

39

0.82

68

Yes

CTL 1

N/A

N/A

F

N/A

N/A

35

N/A

N/A

N/A

N/A

N/A

N/A

N/A

CTL 2

N/A

N/A

F

N/A

N/A

40

N/A

N/A

N/A

N/A

N/A

N/A

N/A

CTL 3

N/A

N/A

M

N/A

N/A

45

N/A

N/A

N/A

N/A

N/A

N/A

N/A

CTL 4

N/A

N/A

N/A

N/A

N/A

N/A

N/A

N/A

N/A

N/A

N/A

N/A

Purchased

  1. FUS, fused in sarcoma, ALSFRS-R a revised ALS functional rating scale, ALS amyotrophic lateral sclerosis, F female, N/A not applicable, M male, CTL control
  2. ALSFRS-R and delta FS were evaluated at the first visit
  3. aReported previously (Kim H-J et al., 2015). bReported previously (Kwon MJ et al., 2012; Kim YE et al., 2014).
  4. c>61 means that more than 61 months have passed since symptom onset and the patient is still alive on the last follow-up
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Molecular Neurodegeneration

ISSN: 1750-1326