Now showing items 1-12 of 12

    • Adult Onset Leukodystrophy with Neuroaxonal Spheroids: Clinical, Neuroimaging and Neuropathologic Observations 

      Freeman, Stefanie H.; Hyman, Bradley Theodore; Sims, Katherine; Hedley-Whyte, E. Tessa; Vossough, Arastoo; Frosch, Matthew P.; Schmahmann, Jeremy Dan (Wiley-Blackwell, 2009)
      Pigmented orthochromatic leukodystrophy (POLD) and Hereditary diffuse leukoencephalopathy with spheroids HDLS are two adult onset leukodystrophies with neuroaxonal spheroids presenting with prominent neurobehavioral, ...
    • Ataxia, Dementia, and Hypogonadotropism Caused by Disordered Ubiquitination 

      Margolin, David H.; Kousi, Maria; Chan, Yee-Ming; Lim, Elaine T.; Schmahmann, Jeremy Dan; Hadjivassiliou, Marios; Hall, Janet E.; Adam, Ibrahim; Dwyer, Andrew; Plummer, Lacey; Aldrin, Stephanie V.; O, Julia; Kirby, Andrew; Lage, Kasper; Milunsky, Aubrey; Milunsky, Jeff M.; Chan, Jennifer Ang; Hedley-Whyte, E. Tessa; Daly, Mark Joseph; Katsanis, Nicholas; Seminara, Stephanie Beth (New England Journal of Medicine (NEJM/MMS), 2013)
      In recent years, we have seen great advances in the elucidation of genetic causes of cerebellar ataxia, with newly identified genes regulating a wide spectrum of cellular functions, including intracellular signaling, tau ...
    • Atypical Case Of Wolfram Syndrome Revealed Through Targeted Exome Sequencing In A Patient With Suspected Mitochondrial Disease 

      Lieber, Daniel Solomon; Vafai, Scott Bradley; Horton, Laura C; Slate, Nancy G; Liu, Shangtao; Borowsky, Mark L; Calvo, Sarah E; Schmahmann, Jeremy Dan; Mootha, Vamsi Krishna (BioMed Central, 2012)
      Background: Mitochondrial diseases comprise a diverse set of clinical disorders that affect multiple organ systems with varying severity and age of onset. Due to their clinical and genetic heterogeneity, these diseases are ...
    • Clinical characteristics of patients with spinocerebellar ataxias 1, 2, 3 and 6 in the US; a prospective observational study 

      Ashizawa, Tetsuo; Figueroa, Karla P; Perlman, Susan L; Gomez, Christopher M; Wilmot, George R; Schmahmann, Jeremy D; Ying, Sarah H; Zesiewicz, Theresa A; Paulson, Henry L; Shakkottai, Vikram G; Bushara, Khalaf O; Kuo, Sheng-Han; Geschwind, Michael D; Xia, Guangbin; Mazzoni, Pietro; Krischer, Jeffrey P; Cuthbertson, David; Holbert, Amy Roberts; Ferguson, John H; Pulst, Stefan M; Subramony, SH (BioMed Central, 2013)
      Background: All spinocerebellar ataxias (SCAs) are rare diseases. SCA1, 2, 3 and 6 are the four most common SCAs, all caused by expanded polyglutamine-coding CAG repeats. Their pathomechanisms are becoming increasingly ...
    • Consensus Paper: The Role of the Cerebellum in Perceptual Processes 

      Baumann, Oliver; Borra, Ronald J.; Bower, James M.; Cullen, Kathleen E.; Habas, Christophe; Ivry, Richard B.; Leggio, Maria; Mattingley, Jason B.; Molinari, Marco; Moulton, Eric A.; Paulin, Michael G.; Pavlova, Marina A.; Schmahmann, Jeremy D.; Sokolov, Arseny A. (Springer US, 2014)
      Various lines of evidence accumulated over the past 30 years indicate that the cerebellum, long recognized as essential for motor control, also has considerable influence on perceptual processes. In this paper, we bring ...
    • Delayed Posthypoxic Leukoencephalopathy: Improvement with Antioxidant Therapy 

      King, Franklin; Morris, Nicholas A.; Schmahmann, Jeremy D. (S. Karger AG, 2015)
      Introduction: Delayed posthypoxic leukoencephalopathy (DPHL) may result from a variety of hypoxic insults, including respiratory depression from an opiate overdose. The underlying pathophysiological mechanism of DPHL remains ...
    • Diffusion Spectrum Imaging Shows the Structural Basis of Functional Cerebellar Circuits in the Human Cerebellum In Vivo 

      Granziera, Cristina; Schmahmann, Jeremy Dan; Hadjikhani, Nouchine; Meyer, Heiko; Meuli, Reto; Wedeen, Van Jay; Krueger, Gunnar (Public Library of Science, 2009)
      Background: The cerebellum is a complex structure that can be affected by several congenital and acquired diseases leading to alteration of its function and neuronal circuits. Identifying the structural bases of cerebellar ...
    • Enhancing the Temporal Complexity of Distributed Brain Networks with Patterned Cerebellar Stimulation 

      Farzan, Faranak; Pascual-Leone, Alvaro; Schmahmann, Jeremy D.; Halko, Mark (Nature Publishing Group, 2016)
      Growing evidence suggests that sensory, motor, cognitive and affective processes map onto specific, distributed neural networks. Cerebellar subregions are part of these networks, but how the cerebellum is involved in this ...
    • Next generation sequencing with copy number variant detection expands the phenotypic spectrum of HSD17B4-deficiency 

      Lieber, Daniel S; Hershman, Steven G; Slate, Nancy G; Calvo, Sarah E; Sims, Katherine B; Schmahmann, Jeremy D; Mootha, Vamsi K (BioMed Central, 2014)
      Background: D-bifunctional protein deficiency, caused by recessive mutations in HSD17B4, is a severe, infantile-onset disorder of peroxisomal fatty acid oxidation. Few affected patients survive past two years of age. ...
    • Postural sway and regional cerebellar volume in adults with attention-deficit/hyperactivity disorder 

      Hove, Michael J.; Zeffiro, Thomas A.; Biederman, Joseph; Li, Zhi; Schmahmann, Jeremy; Valera, Eve M. (Elsevier, 2015)
      Objective: Motor abnormalities, including impaired balance and increased postural sway, are commonly reported in children with ADHD, but have yet to be investigated in adults with ADHD. Furthermore, although these abnormalities ...
    • A Proposal for a Coordinated Effort for the Determination of Brainwide Neuroanatomical Connectivity in Model Organisms at a Mesoscopic Scale 

      Bohland, Jason W.; Wu, Caizhi; Barbas, Helen; Bokil, Hemant; Bota, Mihail; Cline, Hollis T.; Freed, Peter J.; Greenspan, Ralph J.; Haber, Suzanne N.; Hawrylycz, Michael; Hilgetag, Claus C.; Jones, Allan; Karten, Harvey J.; Kleinfeld, David; Kötter, Rolf; Lester, Henry A.; Lin, John M.; Mikula, Shawn; Panksepp, Jaak; Price, Joseph L.; Safdieh, Joseph; Schiff, Nicholas D.; Stillman, Bruce W.; Svoboda, Karel; Swanson, Larry W.; Toga, Arthur W.; Van Essen, David C.; Mitra, Partha P.; Sporns, Olaf; Breiter, Hans Charles; Doyle, John C.; Herrera, Daniel Gustavo; Huang, Z. Josh; Jones, Edward G.; Mensh, Brett Daren; Saper, Clifford B.; Schmahmann, Jeremy Dan; Watson, James D. (Public Library of Science, 2009)
      In this era of complete genomes, our knowledge of neuroanatomical circuitry remains surprisingly sparse. Such knowledge is critical, however, for both basic and clinical research into brain function. Here we advocate for ...
    • Vascular Risk Factors and Clinical Progression in Spinocerebellar Ataxias 

      Lo, Raymond Y.; Figueroa, Karla P.; Pulst, Stefan M.; Lin, Chi-Ying; Perlman, Susan; Wilmot, George; Gomez, Christopher M.; Schmahmann, Jeremy; Paulson, Henry; Shakkottai, Vikram G.; Ying, Sarah H.; Zesiewicz, Theresa; Bushara, Khalaf; Geschwind, Michael; Xia, Guangbin; Subramony, S. H.; Ashizawa, Tetsuo; Kuo, Sheng-Han (Columbia University Libraries/Information Services, 2015)
      Background: The contributions of vascular risk factors to spinocerebellar ataxia (SCA) are not known. Methods: We studied 319 participants with SCA 1, 2, 3, and 6 and repeatedly measured clinical severity using the Scale ...