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1. Clinical characteristics of patients with spinocerebellar ataxias 1, 2, 3 and 6 in the US; A prospective observational study

Author

Ashizawa, T, Figueroa, KP, Perlman, SL, Gomez, CM, Wilmot, GR, Schmahmann, JD, Ying, SH, Zesiewicz, TA, Paulson, HL, Shakkottai, VG, Bushara, KO, Kuo, SH, Geschwind, MD, Xia, G, Mazzoni, P, Krischer, JP, Cuthbertson, D, Holbert, AR, Ferguson, JH, Pulst, SM, and Subramony, S

Abstract

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 clear and well-designed clinical trials will be needed. Methods. To characterize the clinical manifestations of spinocerebellar ataxia (SCA) 1, 2, 3 and 6 and their natural histories in the United States (US), we conducted a prospective multicenter study utilized a protocol identical to the European consortium study, using the Scale for the Assessment and Rating of Ataxia (SARA) score as the primary outcome, with follow-ups every 6 months up to 2 years. Results: We enrolled 345 patients (60 SCA1, 75 SCA2, 138 SCA3 and 72 SCA6) at 12 US centers. SCA6 patients had a significantly later onset, and SCA2 patients showed greater upper-body ataxia than patients with the remaining SCAs. The annual increase of SARA score was greater in SCA1 patients (mean ± SE: 1.61 ± 0.41) than in SCA2 (0.71 ± 0.31), SCA3 (0.65 ± 0.24) and SCA6 (0.87 ± 0.28) patients (p = 0.049). The functional stage also worsened faster in SCA1 than in SCA2, 3 and 6 (p = 0.002). Conclusions: The proportions of different SCA patients in US differ from those in the European consortium study, but as in the European patients, SCA1 progress faster than those with SCA2, 3 and 6. Later onset in SCA6 and greater upper body ataxia in SCA2 were noted. We conclude that progression rates of these SCAs were comparable between US and Europe cohorts, suggesting the feasibility of international collaborative clinical studies. © 2013 Ashizawa et al.; licensee BioMed Central Ltd.

Published
2013

29. Consensus-based care recommendations for adults with myotonic dystrophy type 1

Author

Ashizawa, T., Gagnon, C., Groh, W.J., Gutmann, L., Johnson, N.E., Meola, G., Moxley, R., 3rd, Pandya, S., Rogers, M.T., Simpson, E., Angeard, N., Bassez, G., Berggren, K.N., Bhakta, D., Bozzali, M., Broderick, A., Byrne, J.L., Campbell, C., Cup, E.H., Day, J.W., Mattia, E. De, Duboc, D., Duong, T., Eichinger, K., Ekstrom, A.B., Engelen, B. van, Esparis, B., Eymard, B., Ferschl, M., Gadalla, S.M., Gallais, B., Goodglick, T., Heatwole, C., Hilbert, J., Holland, V., Kierkegaard, M., Koopman, Wilma, Lane, K., Maas, D, Mankodi, A., Mathews, K.D., Monckton, D.G., Moser, D., Nazarian, S., Nguyen, L, Nopoulos, P., Petty, R., Phetteplace, J., Puymirat, J., Raman, S., Richer, L., Roma, E., Sampson, J., Sansone, V., Schoser, B., Sterling, L., Statland, J., Subramony, S.H., Tian, C., Trujillo, C., Tomaselli, G., Turner, C., Venance, S., Verma, A., White, M., Winblad, S., Ashizawa, T., Gagnon, C., Groh, W.J., Gutmann, L., Johnson, N.E., Meola, G., Moxley, R., 3rd, Pandya, S., Rogers, M.T., Simpson, E., Angeard, N., Bassez, G., Berggren, K.N., Bhakta, D., Bozzali, M., Broderick, A., Byrne, J.L., Campbell, C., Cup, E.H., Day, J.W., Mattia, E. De, Duboc, D., Duong, T., Eichinger, K., Ekstrom, A.B., Engelen, B. van, Esparis, B., Eymard, B., Ferschl, M., Gadalla, S.M., Gallais, B., Goodglick, T., Heatwole, C., Hilbert, J., Holland, V., Kierkegaard, M., Koopman, Wilma, Lane, K., Maas, D, Mankodi, A., Mathews, K.D., Monckton, D.G., Moser, D., Nazarian, S., Nguyen, L, Nopoulos, P., Petty, R., Phetteplace, J., Puymirat, J., Raman, S., Richer, L., Roma, E., Sampson, J., Sansone, V., Schoser, B., Sterling, L., Statland, J., Subramony, S.H., Tian, C., Trujillo, C., Tomaselli, G., Turner, C., Venance, S., Verma, A., White, M., and Winblad, S.

Abstract

Item does not contain fulltext, Purpose of review: Myotonic dystrophy type 1 (DM1) is a severe, progressive genetic disease that affects between 1 in 3,000 and 8,000 individuals globally. No evidence-based guideline exists to inform the care of these patients, and most do not have access to multidisciplinary care centers staffed by experienced professionals, creating a clinical care deficit. Recent findings: The Myotonic Dystrophy Foundation (MDF) recruited 66 international clinicians experienced in DM1 patient care to develop consensus-based care recommendations. MDF created a 2-step methodology for the project using elements of the Single Text Procedure and the Nominal Group Technique. The process generated a 4-page Quick Reference Guide and a comprehensive, 55-page document that provides clinical care recommendations for 19 discrete body systems and/or care considerations. Summary: The resulting recommendations are intended to help standardize and elevate care for this patient population and reduce variability in clinical trial and study environments.

Published
2018

30. Longitudinal analysis of contrast acuity in Friedreich ataxia

Author

Hamedani, AG, Hauser, LA, Perlman, S, Mathews, K, Wilmot, GR, Zesiewicz, T, Subramony, SH, Ashizawa, T, Delatycki, MB, Brocht, A, Lynch, DR, Hamedani, AG, Hauser, LA, Perlman, S, Mathews, K, Wilmot, GR, Zesiewicz, T, Subramony, SH, Ashizawa, T, Delatycki, MB, Brocht, A, and Lynch, DR

Abstract

OBJECTIVE: To determine the natural history of contrast acuity in Friedreich ataxia. METHODS: In the Friedreich Ataxia-Clinical Outcome Measures Study, participants (n = 764) underwent binocular high- and low-contrast visual acuity testing at annual study visits. Mixed-effects linear regression was used to model visual acuity as a function of time, with random intercepts and slopes to account for intraindividual correlation of repeated measurements. A time-varying covariate was used to adjust for diabetes, and interaction terms were used to assess for effect modification by GAA repeat length, disease duration, and other variables. RESULTS: Across a median of 4.4 years of follow-up, visual acuity decreased significantly at 100% contrast (-0.37 letters/y, 95% confidence interval [CI]: -0.52 to -0.21), 2.5% contrast (-0.81 letters/year, 95% CI: -0.99 to -0.65), and 1.25% contrast (-1.12 letters/y, 95% CI: -1.29 to -0.96 letters/year). There was a significant interaction between time and GAA repeat length such that the rate of decrease in visual acuity was greater for patients with higher GAA repeat lengths at 2.5% contrast (p = 0.018) and 1.25% contrast (p = 0.043) but not 100% contrast. There was no effect modification by age at onset after adjusting for GAA repeat length. CONCLUSIONS: Low-contrast visual acuity decreases linearly over time in Friedreich ataxia, and the rate of decrease is greater at higher GAA repeat lengths. Contrast sensitivity has the potential to serve as a biomarker and surrogate outcome in future studies of Friedreich ataxia.

Published
2018

31. Randomized Trial of Thymectomy in Myasthenia Gravis

Author

Wolfe, Gi, Kaminski, Hj, Aban, Ib, Minisman, G, Kuo, Hc, Marx, A, Ströbel, P, Mazia, C, Oger, J, Cea, Jg, Heckmann, Jm, Evoli, A, Nix, W, Ciafaloni, E, Antonini, G, Witoonpanich, R, King, Jo, Beydoun, Sr, Chalk, Ch, Barboi, Ac, Amato, Aa, Shaibani, Ai, Katirji, B, Lecky, Br, Buckley, C, Vincent, A, Dias Tosta, E, Yoshikawa, H, Waddington Cruz, M, Pulley, Mt, Rivner, Mh, Kostera Pruszczyk, A, Pascuzzi, Rm, Jackson, Ce, Garcia Ramos GS, Verschuuren, Jj, Massey, Jm, Kissel, Jt, Werneck, Lc, Benatar, M, Barohn, Rj, Tandan, R, Mozaffar, T, Conwit, R, Odenkirchen, J, Sonett, Jr, 3rd, Jaretzki A., Newsom Davis, J, Cutter, Gr, MGTX study group including Cutter GR, Feese, M, Saluto, V, Rosenberg, M, Alvarez, V, Rey, L, King, J, Butzkueven, H, Goldblatt, J, Carey, J, Pollard, J, Reddel, S, Handel, N, Mccaughan, B, Pallot, L, Novis, R, Boasquevisque, C, Morato Fernandez, R, Ximenes, M, Werneck, L, Scola, R, Soltoski, P, Chalk, C, Moore, F, Mulder, D, Wadup, L, Mezei, M, Evans, K, Jiwa, T, Schaffar, A, White, C, Toth, C, Gelfand, G, Wood, S, Pringle, E, Zwicker, J, Maziak, D, Shamji, F, Sundaresan, S, Seely, A, Cea, G, Verdugo, R, Aguayo, A, Jander, S, Zickler, P, Klein, M, Weis, Ca, Melms, A, Bischof, F, Aebert, H, Ziemer, G, Thümler, B, Wilhem Schwenkmezger, T, Mayer, E, Schalke, B, Pöschel, P, Hieber, G, Wiebe, K, Clemenzi, A, Ceschin, V, Rendina, E, Venuta, F, Morino, S, Bucci, E, Durelli, Luca, Tavella, A, Clerico, Marinella, Contessa, G, Borasio, P, Servidei, S, Granone, P, Mantegazza, R, Berta, E, Novellino, L, Spinelli, L, Motomura, M, Matsuo, H, Nagayasu, T, Takamori, M, Oda, M, Matsumoto, I, Furukawa, Y, Noto, D, Motozaki, Y, Iwasa, K, Yanase, D, Ramos, Gg, Cacho, B, de la Garza, L, Lipowska, M, Kwiecinski, H, Potulska Chromik, A, Orlowski, T, Silva, A, Feijo, M, Freitas, A, Heckmann, J, Frost, A, Pan, El, Tucker, L, Rossouw, J, Drummond, F, Illa, I, Diaz, J, Leon, C, Yeh, Jh, Chiu, Hc, Hsieh, Ys, Tunlayadechanont, S, Attanavanich, S, Verschuuren, J, Straathof, C, Titulaer, M, Versteegh, M, Pels, A, Krum, Y, Leite, M, Hilton Jones, D, Ratnatunga, C, Farrugia, Me, Petty, R, Overell, J, Kirk, A, Gibson, A, Mcdermott, C, Hopkinson, D, Lecky, B, Watling, D, Marshall, D, Saminaden, S, Davies, D, Dougan, C, Sathasivam, S, Page, R, Sussman, J, Ealing, J, Krysiak, P, Amato, A, Salajegheh, M, Jaklitsch, M, Roe, K, Ashizawa, T, Smith, Rg, Zwischenberg, J, Stanton, P, Barboi, A, Jaradeh, S, Tisol, W, Gasparri, M, Haasler, G, Yellick, M, Dennis, C, Barohn, R, Pasnoor, M, Dimachkie, M, Mcvey, A, Gronseth, G, Dick, A, Kramer, J, Currence, M, Herbelin, L, Belsh, J, Li, G, Langenfeld, J, Mertz, Ma, Harrison, T, Force, S, Usher, S, Beydoun, S, Lin, F, Demeester, S, Akhter, S, Malekniazi, A, Avenido, G, Crum, B, Milone, M, Cassivi, S, Fisher, J, Heatwole, C, Watson, T, Hilbert, J, Smirnow, A, Distad, B, Weiss, M, Wood, D, Haug, J, Ernstoff, R, Cao, J, Chmielewski, G, Welsh, R, Duris, R, Gutmann, L, Pawar, G, Graeber, Gm, Altemus, P, Nance, C, Jackson, C, Grogan, P, Calhoon, J, Kittrell, P, Myers, D, Kaminski, H, Hayat, G, Naunheim, K, Eller, S, Holzemer, E, Alshekhlee, A, Robke, J, Karlinchak, B, Katz, J, Miller, R, Roan, R, Forshew, D, Kissel, J, Elsheikh, B, Ross, P, Chelnick, S, Lewis, R, Acsadi, A, Baciewicz, F, Masse, S, Massey, J, Juel, V, Onaitis, M, Lowe, J, Lipscomb, B, Thai, G, Milliken, J, Martin, V, Karayan, R, Muley, S, Parry, G, Shumway, S, Oh, S, Claussen, G, Lu, L, Cerfolio, R, Young, A, Morgan, M, Pascuzzi, R, Kincaid, J, Kesler, K, Guingrich, S, Michaels, A, Phillips, L, Burns, T, Jones, D, Fischer, C, Pulley, M, Berger, A, D'Agostino, H, Smith, L, Rivner, M, Pruitt, J, Landolfo, K, Hillman, D, Shaibani, A, Sermas, A, Ruel, R, Ismail, F, Sivak, M, Goldstein, M, Camunas, J, Bratton, J, Panitch, H, Leavitt, B, Jones, M, Wolfe, G, Muppidi, S, Vernino, S, Nations, S, Meyer, D, and Gorham, N.

Subjects
Male, medicine, medicine.medical_treatment, 030204 cardiovascular system & hematology, Medical and Health Sciences, Severity of Illness Index, law.invention, 0302 clinical medicine, Randomized controlled trial, law, Prednisone, Adolescent, Adult, Aged, Combined Modality Therapy, Female, Glucocorticoids, Hospitalization, Humans, Middle Aged, Myasthenia Gravis, Single-Blind Method, Treatment Outcome, Young Adult, Thymectomy, Medicine (all), Young adult, MGTX Study Group, General Medicine, Settore MED/26 - NEUROLOGIA, 6.1 Pharmaceuticals, medicine.drug, medicine.medical_specialty, Clinical Trials and Supportive Activities, Autoimmune Disease, 03 medical and health sciences, Rare Diseases, Clinical Research, General & Internal Medicine, Internal medicine, Severity of illness, business.industry, Neurosciences, Evaluation of treatments and therapeutic interventions, Retrospective cohort study, medicine.disease, Myasthenia gravis, Surgery, Clinical research, adolescent, adult, aged, combined modality therapy, female, glucocorticoids, hospitalization, humans, male, middle aged, myasthenia gravis, prednisone, severity of Illness index, single-blind method, treatment outcome, young adult, thymectomy, business, 030217 neurology & neurosurgery
Abstract

BackgroundThymectomy has been a mainstay in the treatment of myasthenia gravis, but there is no conclusive evidence of its benefit. We conducted a multicenter, randomized trial comparing thymectomy plus prednisone with prednisone alone.MethodsWe compared extended transsternal thymectomy plus alternate-day prednisone with alternate-day prednisone alone. Patients 18 to 65 years of age who had generalized nonthymomatous myasthenia gravis with a disease duration of less than 5 years were included if they had Myasthenia Gravis Foundation of America clinical class II to IV disease (on a scale from I to V, with higher classes indicating more severe disease) and elevated circulating concentrations of acetylcholine-receptor antibody. The primary outcomes were the time-weighted average Quantitative Myasthenia Gravis score (on a scale from 0 to 39, with higher scores indicating more severe disease) over a 3-year period, as assessed by means of blinded rating, and the time-weighted average required dose of prednisone over a 3-year period.ResultsA total of 126 patients underwent randomization between 2006 and 2012 at 36 sites. Patients who underwent thymectomy had a lower time-weighted average Quantitative Myasthenia Gravis score over a 3-year period than those who received prednisone alone (6.15 vs. 8.99, P

Published
2016
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33. Coenzyme Q10 and spinocerebellar ataxias

Author

Lo, RY, Figueroa, KP, Pulst, SM, Lin, CY, Perlman, S, Wilmot, G, Gomez, C, Schmahmann, J, Paulson, H, Shakkottai, VG, Ying, S, Zesiewicz, T, Bushara, K, Geschwind, M, Xia, G, Subramony, SH, Ashizawa, T, and Kuo, SH

Subjects
Adult, Male, Neurology & Neurosurgery, Ubiquinone, Clinical Sciences, neurodegeneration, Human Movement and Sports Sciences, Middle Aged, Severity of Illness Index, statins, Huntington Disease, Treatment Outcome, Surveys and Questionnaires, coenzyme Q10, Disease Progression, Humans, Spinocerebellar Ataxias, Female, Cognitive Sciences, Age of Onset, Aged
Abstract

© 2014 International Parkinson and Movement Disorder Society. The aim of this study was to investigate the association between drug exposure and disease severity in SCA types 1, 2, 3 and 6. The Clinical Research Consortium for Spinocerebellar Ataxias (CRC-SCA) enrolled 319 participants with SCA1, 2, 3, and 6 from 12 medical centers in the United States and repeatedly measured clinical severity by the Scale for Assessment and Rating of Ataxia (SARA), the Unified Huntington's Disease Rating Scale part IV (UHDRS-IV), and the 9-item Patient Health Questionnaire during July 2009 to May 2012. We employed generalized estimating equations in regression models to study the longitudinal effects of coenzyme Q10 (CoQ10), statin, and vitamin E on clinical severity of ataxia after adjusting for age, sex, and pathological CAG repeat number. Cross-sectionally, exposure to CoQ10 was associated with lower SARA and higher UHDRS-IV scores in SCA1 and 3. No association was found between statins, vitamin E, and clinical outcome. Longitudinally, CoQ10, statins, and vitamin E did not change the rates of clinical deterioration indexed by SARA and UHDRS-IV scores within 2 years. CoQ10 is associated with better clinical outcome in SCA1 and 3. These drug exposures did not appear to influence clinical progression within 2 years. Further studies are warranted to confirm the association.

Published
2015
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39. Founder effect of the spinocerebellar ataxia type 10 mutation in the Mexican population

Author

Ashizawa, T., Matsuura, T., Rasmussen, A., Grewal, R.P., Zu, L., Pulst, S.M., Pandolfo, M., Sasaki, H., Volpini, V., Yamagata, T., Watase, K., Burgess, D.L., Inoue, K., Yescas, P., Nagamitsu, S., Momoi, M.Y., Tashiro, K., Zoghbi, H.Y., Alonso, E., and Nelson, D.L.

Subjects
Genetic research -- Analysis, Human genetics -- Research, Cerebellar ataxia -- Genetic aspects, Biological sciences
Published
2000

40. SCA8 CTG expansion: evidence for a common haplotype and highly mutable region on both ataxia end non-ataxia chromosomes

Author

Moseley, M., Jacobsen, J., Liquori, C., Durand, A., Davis, L., Ikeda, Y., Bird, T., Spiegel, R., Ashizawa, T. Pandolfo, M., Potter, N., Schaefer, F., Milunsky, A., Kennedy, J., Seltzer, W., Atwood, L., Vincent, J., Day, J., and Ranum, L.

Subjects
Genetic research -- Analysis, Human genetics -- Research, Cerebellar ataxia -- Genetic aspects, Biological sciences
Published
2000

44. Large Expansion of ATTCT pentanucleotide Repeat in Spinocerebellar Ataxia Type 10 (SCA10)

Author

Matsuura, T, Burgess, D.L., Yamagata, T., Rasmussen, A., Grewal, R.P., Watase, K., Tsuji, K., Khajavi, M., McCall, A, Davis, C.F., Yescas, P., Zu, L., Pulst, S.M., Alonso, E., Noebels, J.L., Nelson, D.L., Zoghbi, H.Y ., and Ashizawa, T.

Subjects
Cerebellar ataxia -- Demographic aspects, Gene amplification -- Analysis, Mexicans -- Health aspects, Introns -- Genetic aspects, Nucleotide sequence -- Genetic aspects, Somatoform disorders -- Genetic aspects, Biological sciences
Published
2000

48. COHORT study of the HSG. CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion

Author

Lee JM, Ramos EM, Lee JH, Gillis T, Mysore JS, Hayden MR, Warby SC, Morrison P, Nance M, Ross CA, Margolis RL, Squitieri F, Orobello S, Di Donato S, Gomez-Tortosa E, Ayuso C, Suchowersky O, Trent RJ, McCusker E, Novelletto A, Frontali M, Jones R, Ashizawa T, Frank S, Saint-Hilaire MH, Hersch SM, Rosas HD, Lucente D, Harrison MB, Zanko A, Abramson RK, Marder K, Sequeiros J, Paulsen JS, PREDICT-HD study of the Huntington Study Group (HSG), Landwehrmeyer GB, REGISTRY study of the European Huntington's Disease Network, Myers RH, and HD-MAPS Study Group, MacDonald ME, Gusella JF

Published
2012

49. Population stratification may bias analysis of PGC-1alpha as amodifiewr of age at Huntington disease motor onset

Author

Ramos EM, Latourelle JC, Lee JH, Gillis T, Mysore JS, Squitieri F, Di Pardo A, Di Donato S, Hayden MR, Morrison PJ, Nance M, Ross CA, Margolis RL, Gomez-Tortosa E, Ayuso C, Suchowersky O, Trent RJ, McCusker E, Novelletto A, Frontali M, Jones R, Ashizawa T, Frank S, Saint-Hilaire MH, Hersch SM, Rosas HD, Lucente D, Harrison MB, Zanko A, Marder K, Gusella JF, Lee JM, Alonso I, Sequeiros J, Myers RH, and Macdonald ME.

Published
2012
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50. Population stratification may bias analysis of PGC-1? as a modifier of age at Huntington disease motor onset

Author

Ramos EM, Latourelle JC, Lee JH, Gillis T, Mysore JS, Squitieri F, Di Pardo A, Di Donato S, Hayden MR, Morrison PJ, Nance M, Ross CA, Margolis RL, Gomez-Tortosa E, Ayuso C, Suchowersky O, Trent RJ, McCusker E, Novelletto A, Frontali M, Jones R, Ashizawa T, Frank S, Saint-Hilaire MH, Hersch SM, Rosas HD, Lucente D, Harrison MB, Zanko A, Marder K, Gusella JF, Lee JM, Alonso I, Sequeiros J, Myers RH, and Macdonald ME

Published
2012

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