Browsing by Subject "Movement Disorders"

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    A Unified Framework for Evidence-Based Diagnostic Criteria Programs in Movement Disorders.
    (Movement disorders : official journal of the Movement Disorder Society, 2023-07) Mestre, Tiago A; Fabbri, Margherita; Luo, Sheng; Stebbins, Glenn T; Goetz, Christopher G; Sampaio, Cristina
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    An Analysis of Public Interest in Elective Neurosurgical Procedures During the COVID-19 Pandemic Through Online Search Engine Trends.
    (World neurosurgery, 2021-04) Feng, Austin Y; Garcia, Cesar A; Jin, Michael C; Ho, Allen L; Li, Gordon; Grant, Gerald; Ratliff, John; Skirboll, Stephen L

    Objective

    In the wake of the COVID-19 pandemic, the Centers for Medicare & Medicaid Services (CMS) has recommended the temporary cessation of all elective surgeries. The effects on patients' interest of elective neurosurgical procedures are currently unexplored.

    Methods

    Using Google Trends, search terms of 7 different neurosurgical procedure categories (trauma, spine, tumor, movement disorder, epilepsy, endovascular, and miscellaneous) were assessed in terms of relative search volume (RSV) between January 2015 and September 2020. Analyses of search terms were performed for over the short term (February 18, 2020, to April 18, 2020), intermediate term (January 1, 2020, to May 31, 2020), and long term (January 2015 to September 2020). State-level interest during phase I reopening (April 28, 2020, to May 31, 2020) was also evaluated.

    Results

    In the short term, RSVs of 4 categories (epilepsy, movement disorder, spine, and tumor) were significantly lower in the post-CMS announcement period. In the intermediate term, RSVs of 5 categories (miscellaneous, epilepsy, movement disorder, spine, and tumor) were significantly lower in the post-CMS announcement period. In the long term, RSVs of nearly all categories (endovascular, epilepsy, miscellaneous, movement disorder, spine, and tumor) were significantly lower in the post-CMS announcement period. Only the movement disorder procedure category had significantly higher RSV in states that reopened early.

    Conclusions

    With the recommendation for cessation of elective surgeries, patient interests in overall elective neurosurgical procedures have dropped significantly. With gradual reopening, there has been a resurgence in some procedure types. Google Trends has proven to be a useful tracker of patient interest and may be used by neurosurgical departments to facilitate outreach strategies.
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    ApoE mimetic ameliorates motor deficit and tissue damage in rat spinal cord injury.
    (Journal of neuroscience research, 2014-07) Wang, Ruihua; Hong, Jun; Lu, Miaomiao; Neil, Jessica E; Vitek, Michael P; Liu, Xiaozhi; Warner, David S; Li, Fengqiao; Sheng, Huaxin
    Apolipoprotein E (apoE), a plasma protein responsible for transporting lipid and cholesterol, modulates responses of the central nervous system to injury. Small peptides derived from the receptor-binding region of apoE can simulate some important bioactivities of apoE holoprotein and offer neuroprotection against brain injury. We tested whether COG1410, an apoE-mimetic peptide, provides protection in a rat model of spinal cord injury (SCI). Traumatic injury was created at T8 by a cortical impact device. Injured rats were randomized to four treatment groups: vehicle, 0.15, 0.3, or 0.6 mg/kg COG1410; sham surgery rats received vehicle. Basso, Beattie, Bresnahan neurological score was evaluated prior to injury and at 1, 3, 7, and 14 days after injury. Histological changes were evaluated at 14 days. All injured rats lost body weight during the first week following injury. Body weight recovery was significantly improved in rats treated with COG1410. Mechanical impact resulted in severe motor deficit, and most animals had a BBB score of 0-1 at 24 hours postinjury. COG1410-treated rats showed significantly improved functional recovery and ameliorated motor deficit at 14 days postinjury. Histological analysis showed that COG1410 groups had a significantly reduced lesion size at the site of injury, a larger preserved luxol fast blue-stained area, and more visible neurons in the surrounding area of injury. Microglial activation was also significantly suppressed. These findings indicate that this apoE mimetic effectively improved neurological and histological outcome following SCI in rats, and the effect was associated with inhibition of microglial activation.
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    Genetic disruption of WASHC4 drives endo-lysosomal dysfunction and cognitive-movement impairments in mice and humans.
    (eLife, 2021-03-22) Courtland, Jamie L; Bradshaw, Tyler Wa; Waitt, Greg; Soderblom, Erik J; Ho, Tricia; Rajab, Anna; Vancini, Ricardo; Kim, Il Hwan; Soderling, Scott H
    Mutation of the Wiskott-Aldrich syndrome protein and SCAR homology (WASH) complex subunit, SWIP, is implicated in human intellectual disability, but the cellular etiology of this association is unknown. We identify the neuronal WASH complex proteome, revealing a network of endosomal proteins. To uncover how dysfunction of endosomal SWIP leads to disease, we generate a mouse model of the human WASHC4c.3056C>G mutation. Quantitative spatial proteomics analysis of SWIPP1019R mouse brain reveals that this mutation destabilizes the WASH complex and uncovers significant perturbations in both endosomal and lysosomal pathways. Cellular and histological analyses confirm that SWIPP1019R results in endo-lysosomal disruption and uncover indicators of neurodegeneration. We find that SWIPP1019R not only impacts cognition, but also causes significant progressive motor deficits in mice. A retrospective analysis of SWIPP1019R patients reveals similar movement deficits in humans. Combined, these findings support the model that WASH complex destabilization, resulting from SWIPP1019R, drives cognitive and motor impairments via endo-lysosomal dysfunction in the brain.
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    Impact of Movement Disorders on Management of Spinal Deformity in the Elderly.
    (Neurosurgery, 2015-10) Ha, Yoon; Oh, Jae Keun; Smith, Justin S; Ailon, Tamir; Fehlings, Michael G; Shaffrey, Christopher I; Ames, Christopher P
    Spinal deformities are frequent and disabling complications of movement disorders such as Parkinson disease and multiple system atrophy. The most distinct spinal deformities include camptocormia, antecollis, Pisa syndrome, and scoliosis. Spinal surgery has become lower risk and more efficacious for complex spinal deformities, and thus more appealing to patients, particularly those for whom conservative treatment is inappropriate or ineffective. Recent innovations and advances in spinal surgery have revolutionized the management of spinal deformities in elderly patients. However, spinal deformity surgeries in patients with Parkinson disease remain challenging. High rates of mechanical complications can necessitate revision surgery. The success of spinal surgery in patients with Parkinson disease depends on an interdisciplinary approach, including both surgeons and movement disorder specialists, to select appropriate surgical patients and manage postoperative movement in order to decrease mechanical failures. Achieving appropriate correction of sagittal alignment with strong biomechanical instrumentation and bone fusion is the key determinant of satisfactory results.
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    Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway.
    (Genet Med, 2014-10) Enns, Gregory M; Shashi, Vandana; Bainbridge, Matthew; Gambello, Michael J; Zahir, Farah R; Bast, Thomas; Crimian, Rebecca; Schoch, Kelly; Platt, Julia; Cox, Rachel; Bernstein, Jonathan A; Scavina, Mena; Walter, Rhonda S; Bibb, Audrey; Jones, Melanie; Hegde, Madhuri; Graham, Brett H; Need, Anna C; Oviedo, Angelica; Schaaf, Christian P; Boyle, Sean; Butte, Atul J; Chen, Rui; Chen, Rong; Clark, Michael J; Haraksingh, Rajini; FORGE Canada Consortium; Cowan, Tina M; He, Ping; Langlois, Sylvie; Zoghbi, Huda Y; Snyder, Michael; Gibbs, Richard A; Freeze, Hudson H; Goldstein, David B
    PURPOSE: The endoplasmic reticulum-associated degradation pathway is responsible for the translocation of misfolded proteins across the endoplasmic reticulum membrane into the cytosol for subsequent degradation by the proteasome. To define the phenotype associated with a novel inherited disorder of cytosolic endoplasmic reticulum-associated degradation pathway dysfunction, we studied a series of eight patients with deficiency of N-glycanase 1. METHODS: Whole-genome, whole-exome, or standard Sanger sequencing techniques were employed. Retrospective chart reviews were performed in order to obtain clinical data. RESULTS: All patients had global developmental delay, a movement disorder, and hypotonia. Other common findings included hypolacrima or alacrima (7/8), elevated liver transaminases (6/7), microcephaly (6/8), diminished reflexes (6/8), hepatocyte cytoplasmic storage material or vacuolization (5/6), and seizures (4/8). The nonsense mutation c.1201A>T (p.R401X) was the most common deleterious allele. CONCLUSION: NGLY1 deficiency is a novel autosomal recessive disorder of the endoplasmic reticulum-associated degradation pathway associated with neurological dysfunction, abnormal tear production, and liver disease. The majority of patients detected to date carry a specific nonsense mutation that appears to be associated with severe disease. The phenotypic spectrum is likely to enlarge as cases with a broader range of mutations are detected.
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    Reply to: "The Framework for Diagnostic Criteria in Movement Disorders: The Value of Methodological Tools and Combined Criteria".
    (Movement disorders : official journal of the Movement Disorder Society, 2023-09) Mestre, Tiago A; Luo, Sheng; Stebbins, Glenn T; Sampaio, Cristina; Goetz, Christopher G
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    Viewpoint on Milestones for Fellowship Training in Movement Disorders.
    (Movement disorders : official journal of the Movement Disorder Society, 2022-08) Ratliff, Jeffrey B; Schaefer, Sara M; Chitnis, Shilpa; Cooney, Jeffrey W; Hess, Christopher W; Okubadejo, Njideka; Shalash, Ali; Moro, Elena; Sue, Carolyn; Pandey, Sanjay; Pal, Pramod K; Yang, Laurice