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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

Hypertension

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)

 Ataxia

 Hyperreflexia

+(Left)

 Sensory impairment

Lower limb

 Spasticity

+(Left)

 Weakness

+(Left)

 Ataxia

++

+

+

 Hyperreflexia

++(Bilateral)

+(Bilateral)

++(Left)

 Sensory impairment

Plantar reflexes

++(Bilateral)

+(Bilateral)

++(Left)

Dysarthria

+

+

Nystagmus

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