Table 1

Clinical phenotypes of patients with CHSP

Family/patientSexAOMuscle tone and tendon reflexes lower extremitiesMuscle tone and tendon reflexes upper extremitiesDeep sensation vibration and positionGMFCS (level)Cognitive and language developmental delayMRI/CT of brainKyphosis/pectus carinatumHypertrichosisSmall joint hyper-flexibilityMiscellaneous
1/VI7F15 m+++ ClonusNormal muscle tone, increased tendon reflexesNormalIII Uses walker*MildNormal MRI of brain and spine at 3 Y++/−+Normal hearing and vision
1/VI14F36 m+++ ClonusIncreased muscle tone and tendon reflexesDiminished vibration sensationIII Uses walker*Mild, speech delayNormal CT at 3 Y, normal MRI at 9 Y, mild ventriculomegaly+/−+++Normal hearing and vision
1/VI15F15 m+++ ClonusNormal muscle tone, increased tendon reflexesNormalIII Uses walkerNormal intelligence, mild speech difficultiesNormal MRI at 7 Y+/++Normal hearing and vision
1/VI16M10 m+++ Spontaneous clonusIncreased muscle tone and tendon reflexesLoss of vibration sensationIV Uses wheel chair and walker*Mild, speech delayAt 18 m mild white matter changes—left, non-specific+++/+++Micro-meatus, normal hearing and vision
1/VI17M12 m++++ Severe clonusIncreased muscle tone and tendon reflexesAbnormal position sensationIV Uses walkerModerateNA++/+++Normal hearing and vision
1/VII1F12 m++Increased muscle tone, increased tendon reflexes—severeNormalIII Uses walker*Severe, no speechSuspected cortical dysplasia, insular left, otherwise normal MRI at 4 Y+++/++Severe hearing impairment, far sighted needs glasses
1/VII3M12 m+++Normal muscle tone, increased tendon reflexes—mildNormalIII Uses wheel chair and walker*Mild, delayed speechNA++/+++Severe hearing impairment
2/II8F7 m+++ Clonus, dystoniaIncreased muscle tone and tendon reflexes, dystoniaNormalIV Uses wheel chair and walkerMild, delayed speechNormal CT at 3 Y+++/++Far sighted needs glasses
2/III12F8 m+++ DystoniaIncreased muscle tone and tendon reflexes, dystoniaNormalVModerate; delayed speechNormal brain and spine MRI at 6 Y++/+NANAFTT microcephaly normal hearing and vision
  • * Botulinum injections.

  • AO, age at onset; CHSP, complex hereditary spastic paraparesis; FTT, failure to thrive; GMFCS, Gross Motor Function Classification System; m, months; NA, not available; Y, years.

  • + and − indicated clinical manifestation. − = none; + = weak; ++ = moderate; +++ = severe; NA = not available.