Literature DB >> 29700645

Dilemma of multiple system atrophy and spinocerebellar ataxias.

Ming Li1,2, Qianqian Ma1, Xing Zhao1, Can Wang1, Huijie Wu1, Jinyao Li1, Wei Yang3.   

Abstract

Multiple system atrophy (MSA) and spinocerebellar ataxias (SCAs) are both progressive neurodegenerative disorders, which can manifest cerebellar dysfunctions and parkinsonism-related symptoms, although the former is sporadic and the latter is autosomal dominant disease. Routinely, diagnosis is primarily based on clinical information-thorough history and physical examination should be included. Provided family history obtained, distinguishing SCAs from MSA is easy. However, how can we diagnose MSA or SCAs, in case of insufficient and unconvinced clinical symptoms or family history? Especially, familial MSA cases had been reported recently. We may drop into a dilemma resulting from analogous manifestations between MSA and SCAs. Herein, we aim to give a comprehensive introduction of MSA and SCAs, mainly in phenotype and genotype, and then address the connection and difference between them. Recently, some studies had been put forward to figure out the overlapped features between MSA and SCAs. Through this review, we want to discuss the possibility of misdiagnosis between MSA and SCAs.

Entities:  

Keywords:  Hereditary; Misdiagnosis; Multiple system atrophy; Spinocerebellar ataxia; Sporadic

Mesh:

Year:  2018        PMID: 29700645     DOI: 10.1007/s00415-018-8876-x

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


  72 in total

1.  Amyotrophic lateral sclerosis and spinocerebellar ataxia type 2 in a family with full CAG repeat expansions of ATXN2.

Authors:  Sirinan Tazen; Karla Figueroa; Justin Y Kwan; Jill Goldman; Ann Hunt; Jacinda Sampson; Laurie Gutmann; Stefan M Pulst; Hiroshi Mitsumoto; Sheng-Han Kuo
Journal:  JAMA Neurol       Date:  2013-10       Impact factor: 18.302

2.  Mutant COQ2 in multiple-system atrophy.

Authors:  Manu Sharma; Gregor Wenning; Rejko Krüger
Journal:  N Engl J Med       Date:  2014-07-03       Impact factor: 91.245

3.  Long-term disease progression in spinocerebellar ataxia types 1, 2, 3, and 6: a longitudinal cohort study.

Authors:  Heike Jacobi; Sophie Tezenas du Montcel; Peter Bauer; Paola Giunti; Arron Cook; Robyn Labrum; Michael H Parkinson; Alexandra Durr; Alexis Brice; Perrine Charles; Cecilia Marelli; Caterina Mariotti; Lorenzo Nanetti; Marta Panzeri; Maria Rakowicz; Anna Sulek; Anna Sobanska; Tanja Schmitz-Hübsch; Ludger Schöls; Holger Hengel; Laszlo Baliko; Bela Melegh; Alessandro Filla; Antonella Antenora; Jon Infante; José Berciano; Bart P van de Warrenburg; Dagmar Timmann; Sandra Szymanski; Sylvia Boesch; Jun-Suk Kang; Massimo Pandolfo; Jörg B Schulz; Sonia Molho; Alhassane Diallo; Thomas Klockgether
Journal:  Lancet Neurol       Date:  2015-09-13       Impact factor: 44.182

4.  Should genetic testing for SCAs be included in the diagnostic workup for MSA?

Authors:  Han-Joon Kim; Beom S Jeon; Junghwan Shin; Woong-Woo Lee; Hyeyoung Park; Yu Jin Jung; Gwanhee Ehm
Journal:  Neurology       Date:  2014-10-08       Impact factor: 9.910

5.  PET and MRI reveal early evidence of neurodegeneration in spinocerebellar ataxia type 17.

Authors:  Kathrin Brockmann; Matthias Reimold; Christoph Globas; Till Karsten Hauser; Uwe Walter; Hans-Jürgen Machulla; Arndt Rolfs; Ludger Schöls
Journal:  J Nucl Med       Date:  2012-05-31       Impact factor: 10.057

6.  Loss of substantia nigra hyperintensity on 7 Tesla MRI of Parkinson's disease, multiple system atrophy, and progressive supranuclear palsy.

Authors:  Jong-Min Kim; Hye-Jin Jeong; Yun Jung Bae; Sung-Yeon Park; Eunhee Kim; Seo Young Kang; Eung Seok Oh; Kyeong Joon Kim; Beomseok Jeon; Sang Eun Kim; Zang-Hee Cho; Young-Bo Kim
Journal:  Parkinsonism Relat Disord       Date:  2016-02-23       Impact factor: 4.891

7.  Biological and clinical characteristics of individuals at risk for spinocerebellar ataxia types 1, 2, 3, and 6 in the longitudinal RISCA study: analysis of baseline data.

Authors:  Heike Jacobi; Kathrin Reetz; Sophie Tezenas du Montcel; Peter Bauer; Caterina Mariotti; Lorenzo Nanetti; Maria Rakowicz; Anna Sulek; Alexandra Durr; Perrine Charles; Alessandro Filla; Antonella Antenora; Ludger Schöls; Julia Schicks; Jon Infante; Jun-Suk Kang; Dagmar Timmann; Roberto Di Fabio; Marcella Masciullo; Laszlo Baliko; Bela Melegh; Sylvia Boesch; Katrin Bürk; Annkathrin Peltz; Jörg B Schulz; Isabelle Dufaure-Garé; Thomas Klockgether
Journal:  Lancet Neurol       Date:  2013-05-22       Impact factor: 44.182

Review 8.  Update on novel familial forms of Parkinson's disease and multiple system atrophy.

Authors:  Shinsuke Fujioka; Kotaro Ogaki; Pawel M Tacik; Ryan J Uitti; Owen A Ross; Zbigniew K Wszolek
Journal:  Parkinsonism Relat Disord       Date:  2014-01       Impact factor: 4.891

9.  Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes.

Authors:  Sophie Tezenas du Montcel; Alexandra Durr; Peter Bauer; Karla P Figueroa; Yaeko Ichikawa; Alessandro Brussino; Sylvie Forlani; Maria Rakowicz; Ludger Schöls; Caterina Mariotti; Bart P C van de Warrenburg; Laura Orsi; Paola Giunti; Alessandro Filla; Sandra Szymanski; Thomas Klockgether; José Berciano; Massimo Pandolfo; Sylvia Boesch; Bela Melegh; Dagmar Timmann; Paola Mandich; Agnès Camuzat; Jun Goto; Tetsuo Ashizawa; Cécile Cazeneuve; Shoji Tsuji; Stefan-M Pulst; Alfredo Brusco; Olaf Riess; Alexis Brice; Giovanni Stevanin
Journal:  Brain       Date:  2014-06-26       Impact factor: 13.501

10.  Diffusion tensor imaging of Parkinson's disease, multiple system atrophy and progressive supranuclear palsy: a tract-based spatial statistics study.

Authors:  Amanda Worker; Camilla Blain; Jozef Jarosz; K Ray Chaudhuri; Gareth J Barker; Steve C R Williams; Richard G Brown; P Nigel Leigh; Flavio Dell'Acqua; Andrew Simmons
Journal:  PLoS One       Date:  2014-11-18       Impact factor: 3.240

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  4 in total

Review 1.  Neuropathology and pathogenesis of extrapyramidal movement disorders: a critical update-I. Hypokinetic-rigid movement disorders.

Authors:  Kurt A Jellinger
Journal:  J Neural Transm (Vienna)       Date:  2019-06-18       Impact factor: 3.575

2.  The "Black Straight-Line Sign" in the Putamen in Diffusion-Weighted Imaging: A Potential Diagnostic MRI Marker for Multiple System Atrophy.

Authors:  Yiming Zheng; Xiwen Wang; Huajian Zhao; Yanyan Jiang; Ying Zhu; Jing Chen; Wei Sun; Zhaoxia Wang; Yunchuang Sun
Journal:  Front Neurol       Date:  2022-05-19       Impact factor: 4.086

3.  Spinocerebellar ataxia type 40: A case report and literature review.

Authors:  Fengyue Han; Dan Su; Chuanqiang Qu
Journal:  Transl Neurosci       Date:  2021-10-18       Impact factor: 1.757

Review 4.  Heterogeneity of Multiple System Atrophy: An Update.

Authors:  Kurt A Jellinger
Journal:  Biomedicines       Date:  2022-03-03
  4 in total

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