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Table 1 Clinical features and neurophysiologic findings of the three affected siblings

From: Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report

Patient characteristics II-1 II-3 II-4
Gender Male Female Female
Age at onset (years) 45 39 34
Age at examination (years) 55 49 45
Past history Hyperlipidemia Hypertension
Lumbar disc herniation
Brain stem infarction
Motor disability Unable to walk without aids Able to walk with aids Wheelchair-bound
Gait Ataxia Ataxia Spastic-ataxia
Upper limb
 Spasticity +(Left)
 Weakness +(Left)
 Hyperreflexia +(Left)
 Sensory impairment
Lower limb
 Spasticity +(Left)
 Weakness +(Left)
 Ataxia ++ + +
 Hyperreflexia ++(Bilateral) +(Bilateral) ++(Left)
 Sensory impairment
Plantar reflexes ++(Bilateral) +(Bilateral) ++(Left)
Dysarthria + +
Bladder dysfunction
Cognitive function
Auxiliary examination    
 Brain MRI Cerebellar atrophy
Scattered ischemic foci in left temporal lobe
Cerebellar atrophy
Scattered lacunar infarcts in the right basal ganglia
Cerebellar atrophy
Brainstem old cerebral infarction
 EMG/NCS Normal Note done Note done
 EEG Note done Note done Note done
  1. – = absent; + = mild (or active); ++ = moderate (or hyperfunction); NCS = nerve conduction studies