Literature DB >> 19644730

Rare association of motor neuron disease and spinocerebellar ataxia type 2 (SCA2): a new case and review of the literature.

Lorenzo Nanetti, Roberto Fancellu, Chiara Tomasello, Cinzia Gellera, Davide Pareyson, Caterina Mariotti.   

Abstract

We report a rare association of spinocerebellar ataxia and motor neuron disease (MND) in a woman with genetically confirmed SCA2 who subsequently developed a rapidly progressive and fatal form of MND. Considering the rarity of these two neurological conditions, it is interesting to note that the concomitant occurrence of SCA mutations and MND have been previously observed in three cases: in one patient affected by SCA6 and two other cases with SCA2.

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Year:  2009        PMID: 19644730     DOI: 10.1007/s00415-009-5237-9

Source DB:  PubMed          Journal:  J Neurol        ISSN: 0340-5354            Impact factor:   4.849


  11 in total

1.  Motor neuron loss in a patient with spinocerebellar ataxia type 6: chance co-occurrence or causally related?

Authors:  S Ohara; J Tsuyuzaki; R Hayashi; T Iwahashi; T Nakajima; T Maruyama; T Tokuda; I Nonaka
Journal:  J Neurol       Date:  2000-05       Impact factor: 4.849

Review 2.  El Escorial revisited: revised criteria for the diagnosis of amyotrophic lateral sclerosis.

Authors:  B R Brooks; R G Miller; M Swash; T L Munsat
Journal:  Amyotroph Lateral Scler Other Motor Neuron Disord       Date:  2000-12

3.  Spinocerebellar ataxia type 6 with motor neuron loss: a follow-up autopsy report.

Authors:  Shinji Ohara; Teruaki Iwahashi; Takashi Oide; Ryoichi Hayashi; Takashi Nakajima; Kinya Ishikawa; Hidehiro Mizusawa
Journal:  J Neurol       Date:  2002-05       Impact factor: 4.849

4.  Spinocerebellar ataxia type 2 with Levodopa-responsive parkinsonism culminating in motor neuron disease.

Authors:  Jon Infante; José Berciano; Victor Volpini; Jordi Corral; José Miguel Polo; Julio Pascual; Onofre Combarros
Journal:  Mov Disord       Date:  2004-07       Impact factor: 10.338

Review 5.  Profile of families with parkinsonism-predominant spinocerebellar ataxia type 2 (SCA2).

Authors:  Sarah Furtado; Haydeh Payami; Paul J Lockhart; Melissa Hanson; John G Nutt; Andrew A Singleton; Amanda Singleton; Jamel Bower; Ryan J Utti; Thomas D Bird; Raul de la Fuente-Fernandez; Yoshio Tsuboi; Mary L Klimek; Oksana Suchowersky; John Hardy; Donald B Calne; Zbigniew K Wszolek; Matthew Farrer; Katrina Gwinn-Hardy; A Jon Stoessl
Journal:  Mov Disord       Date:  2004-06       Impact factor: 10.338

6.  Machado-Joseph disease presenting as motor neuron disease.

Authors:  Susana Pinto; Mamede De Carvalho
Journal:  Amyotroph Lateral Scler       Date:  2008-06

7.  Autosomal dominant cerebellar ataxia type I in Martinique (French West Indies). Clinical and neuropathological analysis of 53 patients from three unrelated SCA2 families.

Authors:  A Dürr; D Smadja; G Cancel; A Lezin; G Stevanin; J Mikol; R Bellance; G G Buisson; H Chneiweiss; J Dellanave
Journal:  Brain       Date:  1995-12       Impact factor: 13.501

Review 8.  Spinocerebellar ataxias: an update.

Authors:  Bing-wen Soong; Henry L Paulson
Journal:  Curr Opin Neurol       Date:  2007-08       Impact factor: 5.710

9.  Two cases of spinocerebellar ataxia accompanied by involvement of the skeletal motor neuron system and bulbar palsy.

Authors:  Yasuyuki Ohta; Takeshi Hayashi; Makiko Nagai; Miyuki Okamoto; Shoko Nagotani; Isao Nagano; Nobuhiko Ohmori; Yasushi Takehisa; Tetsuro Murakami; Mikio Shoji; Tatsushi Kamiya; Koji Abe
Journal:  Intern Med       Date:  2007-06-01       Impact factor: 1.271

Review 10.  Amyotrophic lateral sclerosis.

Authors:  Lokesh C Wijesekera; P Nigel Leigh
Journal:  Orphanet J Rare Dis       Date:  2009-02-03       Impact factor: 4.123

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  18 in total

1.  Coexistence of Huntington's disease and amyotrophic lateral sclerosis: a clinicopathologic study.

Authors:  Mari Tada; Elizabeth A Coon; Alexander P Osmand; Patricia A Kirby; Wayne Martin; Marguerite Wieler; Atsushi Shiga; Hiroe Shirasaki; Masayoshi Tada; Takao Makifuchi; Mitsunori Yamada; Akiyoshi Kakita; Masatoyo Nishizawa; Hitoshi Takahashi; Henry L Paulson
Journal:  Acta Neuropathol       Date:  2012-06-27       Impact factor: 17.088

2.  Hereditary Ataxias in Cuba: A Nationwide Epidemiological and Clinical Study in 1001 Patients.

Authors:  Luis Velázquez-Pérez; Jacqueline Medrano-Montero; Roberto Rodríguez-Labrada; Nalia Canales-Ochoa; Jandy Campins Alí; Frank J Carrillo Rodes; Tania Rodríguez Graña; María O Hernández Oliver; Raul Aguilera Rodríguez; Yennis Domínguez Barrios; Reydenis Torres Vega; Lissi Flores Angulo; Noharis Y Cordero Navarro; Aldo A Sigler Villanueva; Osiel Gámez Rodríguez; Ilya Sagaró Zambrano; Nayime Y Navas Napóles; Javier García Zacarías; Orlando R Serrano Barrera; María B Ramírez Bautista; Annelié Estupiñán Rodríguez; Leonardo A Guerra Rondón; Yaimeé Vázquez-Mojena; Yanetza González-Zaldivar; Luis E Almaguer Mederos; Alejandro Leyva-Mérida
Journal:  Cerebellum       Date:  2020-04       Impact factor: 3.847

Review 3.  The phenotypic variability of amyotrophic lateral sclerosis.

Authors:  Bart Swinnen; Wim Robberecht
Journal:  Nat Rev Neurol       Date:  2014-10-14       Impact factor: 42.937

4.  A case of amyotrophic lateral sclerosis with intermediate ATXN-1 CAG repeat expansion in a large family with spinocerebellar ataxia type 1.

Authors:  Rossella Spataro; Vincenzo La Bella
Journal:  J Neurol       Date:  2014-06-11       Impact factor: 4.849

5.  Ataxin-2 repeat-length variation and neurodegeneration.

Authors:  Owen A Ross; Nicola J Rutherford; Matt Baker; Alexandra I Soto-Ortolaza; Minerva M Carrasquillo; Mariely DeJesus-Hernandez; Jennifer Adamson; Ma Li; Kathryn Volkening; Elizabeth Finger; William W Seeley; Kimmo J Hatanpaa; Catherine Lomen-Hoerth; Andrew Kertesz; Eileen H Bigio; Carol Lippa; Bryan K Woodruff; David S Knopman; Charles L White; Jay A Van Gerpen; James F Meschia; Ian R Mackenzie; Kevin Boylan; Bradley F Boeve; Bruce L Miller; Michael J Strong; Ryan J Uitti; Steven G Younkin; Neill R Graff-Radford; Ronald C Petersen; Zbigniew K Wszolek; Dennis W Dickson; Rosa Rademakers
Journal:  Hum Mol Genet       Date:  2011-05-24       Impact factor: 6.150

6.  ATXN-2 CAG repeat expansions are interrupted in ALS patients.

Authors:  Lucia Corrado; Letizia Mazzini; Gaia Donata Oggioni; Bernadetta Luciano; Michela Godi; Alfredo Brusco; Sandra D'Alfonso
Journal:  Hum Genet       Date:  2011-05-03       Impact factor: 4.132

7.  Ataxin-2 intermediate-length polyglutamine expansions in European ALS patients.

Authors:  Teresa Lee; Yun R Li; Caroline Ingre; Markus Weber; Torsten Grehl; Ole Gredal; Mamede de Carvalho; Thomas Meyer; Ole-Björn Tysnes; Georg Auburger; Suzana Gispert; Nancy M Bonini; Peter M Andersen; Aaron D Gitler
Journal:  Hum Mol Genet       Date:  2011-02-03       Impact factor: 6.150

8.  ALS-associated ataxin 2 polyQ expansions enhance stress-induced caspase 3 activation and increase TDP-43 pathological modifications.

Authors:  Michael P Hart; Aaron D Gitler
Journal:  J Neurosci       Date:  2012-07-04       Impact factor: 6.167

9.  Pattern of Peripheral Nerve Involvement in Spinocerebellar Ataxia Type 2: a Neurophysiological Assessment.

Authors:  Marcio Luiz Escorcio Bezerra; José Luiz Pedroso; Pedro Braga-Neto; Agessandro Abrahao; Marcus Vinicius Cristino de Albuquerque; Franklin Roberto Pereira Borges; Maria Luiza Saraiva-Pereira; Laura Bannach Jardim; Nadia Iandoli de Oliveira Braga; Gilberto Mastrocola Manzano; Orlando G P Barsottini
Journal:  Cerebellum       Date:  2016-12       Impact factor: 3.847

10.  Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS.

Authors:  Andrew C Elden; Hyung-Jun Kim; Michael P Hart; Alice S Chen-Plotkin; Brian S Johnson; Xiaodong Fang; Maria Armakola; Felix Geser; Robert Greene; Min Min Lu; Arun Padmanabhan; Dana Clay-Falcone; Leo McCluskey; Lauren Elman; Denise Juhr; Peter J Gruber; Udo Rüb; Georg Auburger; John Q Trojanowski; Virginia M-Y Lee; Vivianna M Van Deerlin; Nancy M Bonini; Aaron D Gitler
Journal:  Nature       Date:  2010-08-26       Impact factor: 49.962

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