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Table 2 Main neurological, neurophysiological and neuroradiological findings at last follow-up in nine patients with HHH syndrome

From: Corticospinal tract damage in HHH syndrome: a metabolic cause of hereditary spastic paraplegia

Pt (age at last evaluation) Higher motor ability Spastic paraplegia Pyramidal signs SPRS (max 52) Cerebellar signs Somato-sensory signs Neuropathy
signs
Lower limb neurophysiological findings
Romberg Discrimination touch Vibration Pain Termic Protopatic touch MEPs (CMCT) SSEPs (CSCT) NCV
rest/ facilitation motor sensory
1 (53 years) run + 9 + NE/NE delayed normal normal
2 (44 years) deambulant with assistance + + 31 + delayed/delayed normal normal normal
3 (35 years) wheelchair bound + + 44 + nd nd + nd nd NE NE
4 (34 years) deambulant + 13 + NE/ normal normal normal normal
5 (34 years) deambulant + 20 + NE/normal normal normal normal
6 (29 years) deambulant with assistance + + 37 + NE/delayed normal normal normal
7 (12 years) run + 4 + normal/normal normal normal normal
8 (8 years) run + 2 delayed/delayed normal normal normal
9 (8 years) run + 1 NE/delayed delayed normal normal
  1. Legend: CMCT Central motor conduction time, CSCT Central sensory conduction time, FU Follow-up, MEPs Motor evoked potentials, NCV Nerve conduction velocity, NE Not evocable, nd not done, SSEPs Somato-sensory evoked potentials, SPRS Spastic Paraplegia Rating Scale, + present, – absent