Patients with horizontal gaze palsy and progressive scoliosis due to ROBO3 E319K mutation have both uncrossed and crossed central nervous system pathways and perform normally on neuropsychological testing

Amoiridis, G.; Tzagournissakis, M.; Christodoulou, P.; Karampekios, S.; Latsoudis, H.; Panou, I.; Simos, P.; Plaitakis, A.
September 2006
Journal of Neurology, Neurosurgery & Psychiatry;Sep2006, Vol. 77 Issue 9, p1047
Academic Journal
Background: Horizontal gaze palsy and progressive scoliosis (HGPPS) is caused by mutations of the ROBO3 gene, which encodes a receptor associated with axonal guidance during development. Although there is evidence for uncrossed cuneatal and corticospinal tracts in HGPPS, it is unclear whether other central nervous system pathways are involved. Objective: To study two patients with HGPPS homozygotic for the ROBO3 E319K mutation using a variety of neurophysiological and neuropsychological tests. Methods: A battery of neuropsychological tests was applied to assess various cognitive and perceptual functions. The corticospinal, somatosensory and auditory pathways were evaluated using appropriate neurophysiological tests. To access motor pathways to the neck muscles, electromyographic recordings were obtained from the sternocleidomastoideus and splenius capitis muscle during active head rotation. Results: Both patients performed normally on manual dexterity, complex sensory and visuospatial functions, reading and general intelligence tests. Motor evoked potentials in both patients showed uncrossed corticospinal tracts for the extremities, although in one patient, electromyography indicated pyramidal tract crossing for the neck muscles. Although somatosensory evoked potentials showed uncrossed somatosensory fibres subserving proprioception and light touch, right median nerve somatosensory evoked potential in one patient indicated a partial lemniscal crossing. Sympathetic skin response and blink reflex showed a midline crossing of the spinothalamic and quintothalamic tracts. Brain stem auditory evoked potentials indicated a lack of crossing in the level of the trapezoid body. Conclusions: Our patients with the ROBO3 E319K mutation show normal perceptual and cognitive functions and have both crossed and uncrossed motor, sensory and auditory pathways.


Related Articles

  • Ryk-mediated Wnt repulsion regulates posterior-directed growth of corticospinal tract. Yaobo Liu; Jun Shi; Lu, Chin-Chun; Zheng-Bei Wang; Lyuksyutova, Anna I.; Xuejun Song; Yimin Zou // Nature Neuroscience;Sep2005, Vol. 8 Issue 9, p1151 

    Guidance cues along the longitudinal axis of the CNS are poorly understood. Wnt proteins attract ascending somatosensory axons to project from the spinal cord to the brain. Here we show that Wnt proteins repel corticospinal tract (CST) axons in the opposite direction. Several Wnt genes were...

  • Wnts send axons up and down the spinal cord. Dickson, Barry J. // Nature Neuroscience;Sep2005, Vol. 8 Issue 9, p1130 

    This article focuses on a new study which states that Wnt proteins attract ascending somatosensory axons up the spinal cord toward the brain. Wnt proteins seem unlikely candidates for axon guidance cues. They are far better known for their roles in cell-fate specification and cell proliferation,...

  • Modulations of input-output properties of corticospinal tract neurons by repetitive dynamic index finger abductions. Yahagi, Susumu; Takeda, Yusaku; Zhen Ni; Takahashi, Makoto; Tsuji, Toshio; Komiyama, Tomoyoshi; Maruishi, Masaharu; Muranaka, Hiroyuki; Kasai, Tatsuya // Experimental Brain Research;Mar2005, Vol. 161 Issue 2, p255 

    The goal of this study was to investigate how corticospinal tract neurons (CTNs) are modulated after repetitive dynamic muscle contractions. To address this question, changes of motor evoked potentials (MEPs) to transcranial magnetic stimulation and background EMG (B.EMG) activities were...

  • Subcortical Hyperexcitability in Migraineurs: A High-Frequency Oscillation Study. Kuan-Lin Lai; Kwong-Kum Liao; Jong-Ling Fuh; Shuu-Jiun Wang // Canadian Journal of Neurological Sciences;Mar2011, Vol. 38 Issue 2, p309 

    Objective: An abnormal central nervous system excitability level was found in patients with migraine. Whether it is hyper- or hypo-excitable is still debated. This study aimed to compare the somatosensory high-frequency oscillations (HFOs), which reflected subcortical excitability (early phase)...

  • Asynchronous neuro-osseous growth in adolescent idiopathic scoliosis-MRI-based research. Chu, Winnie C. W.; Rasalkar, Darshana D.; Cheng, Jack C. Y. // Pediatric Radiology;Sep2011, Vol. 41 Issue 9, p1100 

    Adolescent idiopathic scoliosis (AIS) is a common worldwide problem and has been treated for many decades; however, there still remain uncertain areas about this disorder. Its involvement and impact on different parts of the human body remain underestimated due to lack of technology in imaging...

  • Intraoperative spinal cord and nerve root monitoring: a survey of Canadian spine surgeons. Peeling, Lissa; Hentschel, Stephen; Fox, Richard; Hall, Hamilton; Fourney, Daryl R. // Canadian Journal of Surgery;Oct2010, Vol. 53 Issue 5, p324 

    Background: Intraoperative spinal cord and nerve root monitoring is used to identify an insult to the neural elements with the goal of preventing injury. There are 2 major categories of monitoring: evoked potentials (somatosensory evoked potentials and motor evoked potentials) and...

  • The prevention of neural complications in the surgical treatment of scoliosis: the role of the neurophysiological intraoperative monitoring. Pastorelli, F.; Silvestre, M.; Plasmati, R.; Michelucci, R.; Greggi, T.; Morigi, A.; Bacchin, M.; Bonarelli, S.; Cioni, A.; Vommaro, F.; Fini, N.; Lolli, F.; Parisini, P. // European Spine Journal;May2011, Vol. 20, p105 

    Iatrogenic spinal cord injury is the most feared complication of scoliosis surgery. The importance of combined somatosensory evoked potentials (SEP) and motor evoked potentials (MEP) monitoring during spine surgery is well known. The current authors retrospectively evaluated the results of...

  • Neurophysiological Detection of Impending Spinal Cord Injury During Scoliosis Surgery. Schwartz, Daniel M.; Auerbach, Joshua D.; Dormans, John P.; Flynn, John; Bowe, J. Andrew; Laufer, Samuel; Shah, Suken A.; Bowen, J. Richard; Pizzutillo, Peter D.; Jones, Kristofer J.; Drummond, Denis S. // Journal of Bone & Joint Surgery, American Volume;Nov2007, Vol. 89-A Issue 11, p2440 

    Background: Despite the many reports attesting to the efficacy of intraoperative somatosensory evoked potential monitoring in reducing the prevalence of iatrogenic spinal cord injury during corrective scoliosis surgery, these afferent neurophysiological signals can provide only indirect evidence...

  • Commentary. Epstein, Nancy E. // Surgical Neurology International;Jan2014, Vol. 5 Issue 1, p605 

    The author discusses the utilization of motor evoked potentials (MEP) in performing cervical spine surgery associated with somatosensory evoked potentials (SSEP) and electromyography to monitor cervical surgery.


Read the Article


Sign out of this library

Other Topics