Table 1

Timeline table shows demography, clinical features and investigation outcome in 4 SPG 7 positive hereditary spastic paraparesis patients.

Patient characteristicsPatient 1Patient 2Patient 3Patient 4
Onset (yrs)32464547
Age (yrs) at presentation42507061
First Review date12.1.1527.6.1415.7.1514.616
Symptoms at presentationSlowly progressive ataxia-10years, slurred speech-3 years, pins and needles in left lower limb -2 yearsProgressive both calf pain, incoordination and intermittent falls, lower limb weaknessSlowly progressive ataxia for 25 years bilateral ptosis-20 years slurred speech-7 yearsSlowly progressive ataxia , frequent falls in last 3 years, intention tremor slurred speech -10 years
Past historyOccasional headachenilProstate CarcinomsNil
Family historynilnilBrother and Sister-undiagnosed spasticityNil
Clinical signs (1st visit)Dysarthria, cerebellar ataxia, spastic lower limbs, brisk both KJs, AJs, upgoing plantars, partial external ophthalmoplegia on horizontal gazeSpastic and broad-based gait, impaired heel-toe walk, downgoing plantars but brisk KJs and AJs, partial external ophthalmoplegia on horizontal gaze, slow saccadebrisk lower limb reflexes, left LL drift, both upgoing plantars, broad based ataxic gait, impaired heel shin test, bilateral asymmetrical ptosis (L>R), partial external horizontal ophthalmoplegiaBoth lower limb spasticity, both ankle clonus, brisk lower limb reflexes, absent plantar responses dysarthria, cerebellar ataxia
Patient ConcernsMultiple falls, job related concern, risk of transmission to next generationMultiple falls, job fitness, Risk of transmission to childrenMultiple falls, poor mobility, drivingMultiple falls, poor mobility