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Background: Most reported patients carrying GNAO1 mutations showed a severe phenotype characterized by early-onset epileptic encephalopathy and/or chorea., Objective: The aim was to characterize the clinical and genetic features of patients with mild GNAO1-related phenotype with prominent movement disorders., Methods: We included patients diagnosed with GNAO1-related movement disorders of delayed onset (>2 years). Patients experiencing either severe or profound intellectual disability or early-onset epileptic encephalopathy were excluded., Results: Twenty-four patients and 1 asymptomatic subject were included. All patients showed dystonia as prominent movement disorder. Dystonia was focal in 1, segmental in 6, multifocal in 4, and generalized in 13. Six patients showed adolescence or adulthood-onset dystonia. Seven patients presented with parkinsonism and 3 with myoclonus. Dysarthria was observed in 19 patients. Mild and moderate ID were present in 10 and 2 patients, respectively., Conclusion: We highlighted a mild GNAO1-related phenotype, including adolescent-onset dystonia, broadening the clinical spectrum of this condition. © 2022 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society., (© 2022 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.)

The authors compared the outcomes of 17 children aged 7 to 15 years with DYT1 dystonia or cerebral palsy following deep brain stimulation. While patients with cerebral palsy presented with significantly greater motor disability than the DYT1 cohort at baseline, both groups demonstrated improvement at 1 year (cerebral palsy = 24%; DYT1 = 6%). The group as a whole demonstrated significant improvement on the Barry-Albright Dystonia Scale across time. Gains in motor function were apparent in both axial and appendicular distributions involving both upper and lower extremities. Gains achieved by 6 months were sustained in the cerebral palsy group, whereas the DYT1 group demonstrated continued improvement with ongoing pallidal stimulation beyond 18 months. Young patients with dystonia due to cerebral palsy responded comparably to patients with DYT1 dystonia. The severity of motor impairment in patients with cerebral palsy at baseline and follow-up raises the issue of even earlier intervention with neuromodulation in this population to limit long-term motor impairments due to dystonia.

The direct lateral interbody fusion (DLIF), a minimally invasive lateral approach for placement of an interbody fusion device, does not require nerve root retraction or any contact with the great vessels and can lead to short operative times with little blood loss. Due to anatomical restrictions, this procedure has not been used at the lumbosacral (L5-S1) junction. Lumbosacral transitional vertebrae (LSTV), a structural anomaly of the lumbosacral spine associated with low back pain, can result in a level being wrongly identified pre-operatively due to misnumbering of the vertebral levels. To our knowledge, use of the DLIF graft in this patient is the first report of an interbody fusion graft being placed at the disc space between the LSTV and S1 via the transpsoas route. We present a review of the literature regarding the LSTV variation as well as the lateral placement of interbody fusion grafts at the lumbosacral junction., (Copyright © 2011 Elsevier Ltd. All rights reserved.)

Background: Cerebral palsy is the most common cause of pediatric-onset dystonia. Deep brain stimulation is gaining acceptance for treating dystonias in children. There is minimal reported experience regarding the efficacy of deep brain stimulation in cerebral palsy., Methods: Fourteen patients, including 8 younger than 16 years, received bilateral implants (13 patients) or a unilateral implant (1 patient) of the internal globus pallidus and were observed in a noncontrolled, nonblinded study for at least 6 months. Motor function was assessed using the Burke-Fahn-Marsden Dystonia Movement and Disability scales and the Barry Albright Dystonia Scale., Results: By 6 months, significant improvement was observed in the Burke-Fahn-Marsden Dystonia Movement scale (P=.004), the Burke-Fahn-Marsden Dystonia Disability scale (P=.027), and the Barry Albright Dystonia Scale (P=.029) for the whole cohort (n=14) and in the patients treated before skeletal maturity (group 1; n=8): Burke-Fahn-Marsden Dystonia Movement scale, P=.012; Burke-Fahn-Marsden Dystonia Disability scale, P=.020; and Barry Albright Dystonia Scale, P=.027., Conclusions: Deep brain stimulation may offer an effective treatment option for cerebral palsy-related dystonia, especially in those treated before skeletal maturity., (Copyright © 2011 Movement Disorder Society.)

En bloc resection of chordoma has been shown to be critical for prolonging long-term survival and disease-free intervals in patients. Cervical spine chordomas pose special challenges because of the vertebral arteries and critical nerve roots involved. Multilevel chordomas pose even greater challenges because of the need to remove multiple segments of the spine in 1 piece without tumor violation. Although there have been 2 case reports describing multilevel spondylectomy for cervical chordoma, to the authors' knowledge, there are no reports of parasagittal osteotomies for en bloc resection of multilevel cervical chordomas. The use of these osteotomies allows us to avoid intralesional resection and adhere to the oncological principle of en bloc tumor excision. The authors report their management of 3 multilevel cervical chordomas and describe their technique of en bloc tumor removal using parasagittal osteotomy.

Air filters utilized in monitoring industrial air pollutants were analyzed for the presence of airborne fungi. The genera of fungi isolated were essentially those isolated in other areas of the United States; however, Chrysosporium species, unreported in previous airborne surveys, were found in significant numbers. Thirty-six genera of fungi were recovered over a one-year period. Aspergillus and Chrysosporium were isolated most frequently from the filter samples examined.