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Table 1 Clinical features of the affected individuals within the family

From: A novel SPAST gene mutation identified in a Chinese family with hereditary spastic paraplegia

Individual ID

II:6

III:1

III:9

IV:9

Sex

F

M

F

M

Age at onset (years)a

early 30s

early 10s

early 10s

3

Age at examination (years)

63

46

32

10

Disease duration (years)

> 33

> 36

> 22

7

Disability score b

4

2

2

2

Lower limb hyperreflexia

+

+

+

+

Lower limb spasticity

+

+

+

+

Lower limb pyramidal weakness

–

–

–

–

Babinski sign

+

+

+

+

Upper limb hyperreflexia

+

+

+

+

Upper limb spasticity

–

–

–

–

Sphincter disturbances

+

+

+

–

Scoliosis

–

–

+

–

Pes cavus

+

–

–

+

Sensory deficits

+

–

–

–

Mental retardation

–

–

–

–

concomitant diseases

–

–

Pulmonary hypertension

Reflux at mitral and tricuspid valve

  1. + indicates the presence of a feature, − indicates the absence of a feature, respectively
  2. a: Age at onset was calculated approximately when appeared to have difficulty in walking first
  3. b: Disability stages: 1: normal, 2: able to walk alone but not run, 3: need the help of a walking aid or support, 4: wheelchair user
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BMC Medical Genetics

ISSN: 1471-2350

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