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 |