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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 IDII:6III:1III:9IV:9
SexFMFM
Age at onset (years)aearly 30searly 10searly 10s3
Age at examination (years)63463210
Disease duration (years)> 33> 36> 227
Disability score b4222
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 diseasesPulmonary hypertensionReflux 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