title: Mechanisms of postural instability in hereditary spastic paraplegia.
abstract: Hereditary spastic paraplegia (HSP) is characterized by progressive lower extremity spasticity and weakness, due to retrograde axonal degeneration of the corticospinal tract and posterior spinal columns. HSP patients fall frequently. We hypothesized that delayed postural responses contribute to their balance impairments. To distinguish between a delay in afferent and efferent signals, we combined postural responses with a startling acoustic stimulus (SAS). The SAS triggers a postural response directly, bypassing afferent proprioceptive input. We performed two experiments. First, 18 HSP patients and nine healthy controls stood on a balance platform and were instructed to counteract forward and backward balance perturbations, without taking a step or grabbing a handrail. Second, 12 HSP patients and nine controls received backward perturbations, while a SAS accompanied onset of platform motion in 25% of trials. HSP patients were less successful than controls in maintaining balance following backward and forward perturbations. Furthermore, latencies of postural responses were significantly delayed in HSP-patients, by 34 ms in gastrocnemius following forward, and by 38 ms in tibialis anterior following backward perturbations. A SAS accelerated postural responses in all participants, but more so in HSP patients whose latencies were normalized. Our results suggest that delayed postural responses in HSP patients contribute to their balance problems. Combining balance perturbations with a SAS restored normal latencies, suggesting that conduction of efferent signals (presumably by the reticulospinal tract) is normal. We therefore suggest that the delayed postural responses in HSP are caused by slowed conduction time via the posterior spinal columns.
authors.affiliation: Department of Rehabilitation, Nijmegen Centre for Evidence Based Practice, Radboud University Medical Centre, Nijmegen, The Netherlands. j.nonnekes@reval.umcn.nl
authors.forename: Jorik
authors.initials: J
authors.lastname: Nonnekes
authors.forename: Mark
authors.initials: M
authors.lastname: de Niet
authors.forename: Lars B
authors.initials: LB
authors.lastname: Oude Nijhuis
authors.forename: Susanne T
authors.initials: ST
authors.lastname: de Bot
authors.forename: Bart P C
authors.initials: BP
authors.lastname: van de Warrenburg
authors.forename: Bastiaan R
authors.initials: BR
authors.lastname: Bloem
authors.forename: Alexander C
authors.initials: AC
authors.lastname: Geurts
authors.forename: Vivian
authors.initials: V
authors.lastname: Weerdesteyn
mesh_terms: D000161:Acoustic Stimulation; D000328:Adult; D000368:Aged; D004576:Electromyography; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D004856:Postural Balance / Q000502:physiology; D013216:Reflex, Startle; D012678:Sensation Disorders / Q000209:etiology* / Q000503:physiopathology*; D015419:Spastic Paraplegia, Hereditary / Q000150:complications* / Q000503:physiopathology*; D055815:Young Adult