Literature DB >> 9748049

CAG repeat number correlates with the rate of brainstem and cerebellar atrophy in Machado-Joseph disease.

Y Abe1, F Tanaka, M Matsumoto, M Doyu, M Hirayama, T Kachi, G Sobue.   

Abstract

We compared the CAG repeat length and the severity of the brainstem and cerebellar atrophy visualized by MRI in 30 patients with Machado-Joseph disease. We found a strong correlation between the CAG repeat number and the quotient of the degree of atrophy divided by age at examination. These results suggest that the rate of disease progression is dependent on the CAG repeat size and disease progression may commence at birth.

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Year:  1998        PMID： 9748049     DOI： 10.1212/wnl.51.3.882

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


  10 in total

Review 1.  Toward understanding Machado-Joseph disease.

Authors:  Maria do Carmo Costa; Henry L Paulson
Journal:  Prog Neurobiol       Date:  2011-11-23       Impact factor: 11.685

2.  Parametric fMRI of paced motor responses uncovers novel whole-brain imaging biomarkers in spinocerebellar ataxia type 3.

Authors:  João Valente Duarte; Ricardo Faustino; Mercês Lobo; Gil Cunha; César Nunes; Carlos Ferreira; Cristina Januário; Miguel Castelo-Branco
Journal:  Hum Brain Mapp       Date:  2016-06-07       Impact factor: 5.038

3.  Chinese homozygous Machado-Joseph disease (MJD)/SCA3: a case report.

Authors:  Sheng Zeng; Junsheng Zeng; Miao He; Xianfeng Zeng; Yao Zhou; Zhen Liu; Hong Jiang; Beisha Tang; Junling Wang
Journal:  J Hum Genet       Date:  2015-01-08       Impact factor: 3.172

4.  High Serum GFAP Levels in SCA3/MJD May Not Correlate with Disease Progression.

Authors:  Yuting Shi; Chunrong Wang; Fengzhen Huang; Zhao Chen; Zhanfang Sun; Junling Wang; Beisha Tang; Tetsuo Ashizawa; Thomas Klockgether; Hong Jiang
Journal:  Cerebellum       Date:  2015-12       Impact factor: 3.847

5.  Pontine atrophy precedes cerebellar degeneration in spinocerebellar ataxia 7: MRI-based volumetric analysis.

Authors:  O Y Bang; P H Lee; S Y Kim; H J Kim; K Huh
Journal:  J Neurol Neurosurg Psychiatry       Date:  2004-10       Impact factor: 10.154

Review 6.  Caring for Machado-Joseph disease: current understanding and how to help patients.

Authors:  Anelyssa D'Abreu; Marcondes C França; Henry L Paulson; Iscia Lopes-Cendes
Journal:  Parkinsonism Relat Disord       Date:  2009-10-06       Impact factor: 4.891

7.  Clinical Characteristics, Radiological Features and Gene Mutation in 10 Chinese Families with Spinocerebellar Ataxias.

Authors:  Jian-Wen Chen; Li Zhao; Feng Zhang; Lan Li; Yu-Hang Gu; Jing-Yuan Zhou; Hui Zhang; Ming Meng; Kai-Hua Zhang; Wei-Dong Le; Chun-Bo Dong
Journal:  Chin Med J (Engl)       Date:  2015-07-05       Impact factor: 2.628

8.  A Novel Calpain Inhibitor Compound Has Protective Effects on a Zebrafish Model of Spinocerebellar Ataxia Type 3.

Authors:  Katherine J Robinson; Kristy Yuan; Stuart K Plenderleith; Maxinne Watchon; Angela S Laird
Journal:  Cells       Date:  2021-09-29       Impact factor: 6.600

9.  Quantitative connection between polyglutamine aggregation kinetics and neurodegenerative process in patients with Huntington's disease.

Authors:  Keizo Sugaya; Shiro Matsubara
Journal:  Mol Neurodegener       Date:  2012-05-14       Impact factor: 14.195

10.  Flow cytometry allows rapid detection of protein aggregates in cellular and zebrafish models of spinocerebellar ataxia 3.

Authors:  Katherine J Robinson; Madelaine C Tym; Alison Hogan; Maxinne Watchon; Kristy C Yuan; Stuart K Plenderleith; Emily K Don; Angela S Laird
Journal:  Dis Model Mech       Date:  2021-10-11       Impact factor: 5.758
  10 in total

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