Literature DB >> 12451209

SCA-2 presenting as parkinsonism in an Alberta family: clinical, genetic, and PET findings.

S Furtado1, M Farrer, Y Tsuboi, M L Klimek, R de la Fuente-Fernández, J Hussey, P Lockhart, D B Calne, O Suchowersky, A J Stoessl, Z K Wszolek.   

Abstract

The authors describe an Alberta family with levodopa-responsive parkinsonism without cerebellar abnormalities. Genetic testing showed expanded repeats for SCA-2; other mutations for parkinsonism were excluded. The expanded allele shows interruption of the CAG repeat with CAA. PET in two affected members showed reduced fluorodopa uptake in striatum and normal raclopride binding. Families with autosomal dominant, levodopa-responsive parkinsonism should be tested for the SCA-2 mutation.

Entities:  

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Year:  2002        PMID： 12451209     DOI： 10.1212/01.wnl.0000035625.19871.dc

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


  18 in total

1.  Reply to Comment on: "The Geographic Diversity of Spinocerebellar Ataxias (SCAs) in the Americas: A Systematic Review".

Authors:  Hélio A G Teive; Carlos Henrique F Camargo; Renato P Munhoz
Journal:  Mov Disord Clin Pract       Date:  2020-01-13

2.  Comment on: "The Geographic Diversity of Spinocerebellar Ataxias (SCAs) in the Americas: A Systematic Review".

Authors:  Rana Hanna Al-Shaikh; Zbigniew K Wszolek
Journal:  Mov Disord Clin Pract       Date:  2020-01-13

3.  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

4.  Psychotic-affective symptoms and multiple system atrophy expand phenotypes of spinocerebellar ataxia type 2.

Authors:  Kai-Hsiang Chen; Chin-Hsien Lin; Ruey-Meei Wu
Journal:  BMJ Case Rep       Date:  2012-03-20

5.  Topography of cerebral monoamine transporter availability in families with SCA2 mutations: a voxel-wise [123I]beta-CIT SPECT analysis.

Authors:  Christoph Scherfler; Sylvia M Boesch; Eveline Donnemiller; Klaus Seppi; Helga Weirich-Schwaiger; Georg Goebel; Irene Virgolini; Gregor K Wenning; Werner Poewe
Journal:  Eur J Nucl Med Mol Imaging       Date:  2006-05-13       Impact factor: 9.236

6.  Substantia nigra echogenicity in hereditary ataxias with and without nigrostriatal pathology: a pilot study.

Authors:  Patricia Martínez-Sánchez; Rubén Cazorla-García; Irene Sanz-Gallego; Elisa Correas-Callero; Irene Pulido-Valdeolivas; Javier Arpa
Journal:  Cerebellum       Date:  2015-06       Impact factor: 3.847

7.  Genetic neuropathology of Parkinson's disease.

Authors:  Mark R Cookson; John Hardy; Patrick A Lewis
Journal:  Int J Clin Exp Pathol       Date:  2008-01-01

8.  Evaluation of parkinsonism and striatal dopamine transporter loss in patients with spinocerebellar ataxia type 6.

Authors:  Tao Xie; Daniel Appelbaum; Jacqueline Bernard; Mahesh Padmanaban; Yonglin Pu; Christopher Gomez
Journal:  J Neurol       Date:  2016-08-20       Impact factor: 4.849

Review 9.  Movement Disorders in Autosomal Dominant Cerebellar Ataxias: A Systematic Review.

Authors:  Malco Rossi; Santiago Perez-Lloret; Daniel Cerquetti; Marcelo Merello
Journal:  Mov Disord Clin Pract       Date:  2014-06-06

10.  Large-scale assessment of polyglutamine repeat expansions in Parkinson disease.

Authors:  Lisa Wang; Jan O Aasly; Grazia Annesi; Soraya Bardien; Maria Bozi; Alexis Brice; Jonathan Carr; Sun J Chung; Carl Clarke; David Crosiers; Angela Deutschländer; Gertrud Eckstein; Matthew J Farrer; Stefano Goldwurm; Gaetan Garraux; Georgios M Hadjigeorgiou; Andrew A Hicks; Nobutaka Hattori; Christine Klein; Beom Jeon; Yun J Kim; Suzanne Lesage; Juei-Jueng Lin; Timothy Lynch; Peter Lichtner; Anthony E Lang; Vincent Mok; Barbara Jasinska-Myga; George D Mellick; Karen E Morrison; Grzegorz Opala; Lasse Pihlstrøm; Peter P Pramstaller; Sung S Park; Aldo Quattrone; Ekaterina Rogaeva; Owen A Ross; Leonidas Stefanis; Joanne D Stockton; Peter A Silburn; Jessie Theuns; Eng K Tan; Hiroyuki Tomiyama; Mathias Toft; Christine Van Broeckhoven; Ryan J Uitti; Karin Wirdefeldt; Zbigniew Wszolek; Georgia Xiromerisiou; Kuo-Chu Yueh; Yi Zhao; Thomas Gasser; Demetrius M Maraganore; Rejko Krüger; Manu Sharma
Journal:  Neurology       Date:  2015-09-09       Impact factor: 9.910
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