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Table 1 Characteristic of study participants

From: Case report on novel mutation in SPAST gene in Polish family with spastic paraplegia

Patient

A

E

F

G

1

2

3

4

5

6

7

8

Age at examination (years)

56

37

57

51

n/a

n/a

n/a

n/a

n/a

n/a

n/a

n/a

Age at onset of symptoms

n/a

33

37

39

›30

~ 42

›30

~ 45

›40

›43

›30

~ 42

Age at death

n/a

n/a

n/a

n/a

›50

72

›65

66

79

72

›65

47

Motor symptoms

non

Mild gait disorder, slow deterioration

Very severe gait disorder, slow deterioration

Severe gait disorder, slow deterioration

Severe gat disorder, slow deterioration

Severe gait disorder, slow deterioration

Severe gait disorders

Severe gait disorders

Mild gait disorder, slow deterioration

Severe gait disorder, slow deterioration

Severe gait disorders

Mild gate disorders, frequent falls

Neurological examination

Bilateral hyperreflexia, Babinski sign

Spastic para-paresis

Spastic para-paresis

Spastic para-paresis

n/a

n/a

n/a

n/a

n/a

n/a

n/a

n/a

Spastic Paraplegia Rating Scale

0

14

29

23

n/a

n/a

n/a

n/a

n/a

n/a

n/a

n/a

Disability stage

No mobility problems

Mild gait stiffness

Moderate gait stiffness Uses crane age 55

Moderate gait stiffness Occasionally needs support when walking

n/a

Moderate gait stiffness Used bilateral support above age 60 when walking

n/a

In wheel-chair 6 years before death

Moderate gait stiffness Needed bilateral support when walking 10 years before death

Used crane age 67

n/a

n/a

Medical conditions complicating disability

  

Polio disease in childhood

     

Stroke 3 years before death

›43 after her mother death she developed depression, stayed at home, was not active. She broke leg at age 60 and since then she lead sedentary lifestyle and then was bed-ridden for few years

 

Abuse of alcohol/liver cancer

  1. n/a Not available