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Literature DB >> 25281017

Multiple system atrophy is not caused by C9orf72 hexanucleotide repeat expansions.

Sonja W Scholz¹, Elisa Majounie², Tamas Revesz³, Janice L Holton³, Michael S Okun⁴, Henry Houlden³, Andrew B Singleton².

Abstract

Multiple system atrophy (MSA) is a fatal neurodegenerative disorder of unknown etiology that presents with variable combinations of progressive ataxia, parkinsonism, and autonomic instability. Pathologic expansion of a hexanucleotide repeat in the C9orf72 gene has been demonstrated to cause neurodegeneration with diverse neurologic presentations. To test the hypothesis whether pathologic expansions in C9orf72 are a cause of MSA, we undertook genetic screening in 100 neuropathologically confirmed cases. No pathologic repeat expansions were detected suggesting that MSA is not a C9orf72-related neurodegenerative disease. Published by Elsevier Inc.

Entities: Chemical

Keywords: Amyotrophic lateral sclerosis; C9orf72; Fronto-temporal dementia; Multiple system atrophy; Neurodegeneration

Mesh：

Substances：

Year: 2014 PMID： 25281017 PMCID： PMC4315721 DOI： 10.1016/j.neurobiolaging.2014.08.033

Source DB: PubMed Journal: Neurobiol Aging ISSN： 0197-4580 Impact factor: 4.673

8 in total

1. Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS.

Authors: Mariely DeJesus-Hernandez; Ian R Mackenzie; Bradley F Boeve; Adam L Boxer; Matt Baker; Nicola J Rutherford; Alexandra M Nicholson; NiCole A Finch; Heather Flynn; Jennifer Adamson; Naomi Kouri; Aleksandra Wojtas; Pheth Sengdy; Ging-Yuek R Hsiung; Anna Karydas; William W Seeley; Keith A Josephs; Giovanni Coppola; Daniel H Geschwind; Zbigniew K Wszolek; Howard Feldman; David S Knopman; Ronald C Petersen; Bruce L Miller; Dennis W Dickson; Kevin B Boylan; Neill R Graff-Radford; Rosa Rademakers
Journal: Neuron Date: 2011-09-21 Impact factor: 17.173

2. Mutant COQ2 in multiple-system atrophy.

Authors: Jun Mitsui; Shoji Tsuji
Journal: N Engl J Med Date: 2014-07-03 Impact factor: 91.245

3. Psychosis and hallucinations in frontotemporal dementia with the C9ORF72 mutation: a detailed clinical cohort.

Authors: Andrew Kertesz; Lee Cyn Ang; Sarah Jesso; Julia MacKinley; Matt Baker; Patricia Brown; Christen Shoesmith; Rosa Rademakers; Elizabeth C Finger
Journal: Cogn Behav Neurol Date: 2013-09 Impact factor: 1.600

4. Corticobasal and ataxia syndromes widen the spectrum of C9ORF72 hexanucleotide expansion disease.

Authors: S G Lindquist; M Duno; M Batbayli; A Puschmann; H Braendgaard; S Mardosiene; K Svenstrup; L H Pinborg; K Vestergaard; L E Hjermind; J Stokholm; B B Andersen; P Johannsen; J E Nielsen
Journal: Clin Genet Date: 2012-07-04 Impact factor: 4.438

5. Multiple system atrophy and amyotrophic lateral sclerosis in a family with hexanucleotide repeat expansions in C9orf72.

Authors: Jill S Goldman; Catarina Quinzii; Jane Dunning-Broadbent; Cheryl Waters; Hiroshi Mitsumoto; Thomas H Brannagan; Stephanie Cosentino; Edward D Huey; Peter Nagy; Sheng-Han Kuo
Journal: JAMA Neurol Date: 2014-06 Impact factor: 18.302

6. A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD.

Authors: Alan E Renton; Elisa Majounie; Adrian Waite; Javier Simón-Sánchez; Sara Rollinson; J Raphael Gibbs; Jennifer C Schymick; Hannu Laaksovirta; John C van Swieten; Liisa Myllykangas; Hannu Kalimo; Anders Paetau; Yevgeniya Abramzon; Anne M Remes; Alice Kaganovich; Sonja W Scholz; Jamie Duckworth; Jinhui Ding; Daniel W Harmer; Dena G Hernandez; Janel O Johnson; Kin Mok; Mina Ryten; Danyah Trabzuni; Rita J Guerreiro; Richard W Orrell; James Neal; Alex Murray; Justin Pearson; Iris E Jansen; David Sondervan; Harro Seelaar; Derek Blake; Kate Young; Nicola Halliwell; Janis Bennion Callister; Greg Toulson; Anna Richardson; Alex Gerhard; Julie Snowden; David Mann; David Neary; Michael A Nalls; Terhi Peuralinna; Lilja Jansson; Veli-Matti Isoviita; Anna-Lotta Kaivorinne; Maarit Hölttä-Vuori; Elina Ikonen; Raimo Sulkava; Michael Benatar; Joanne Wuu; Adriano Chiò; Gabriella Restagno; Giuseppe Borghero; Mario Sabatelli; David Heckerman; Ekaterina Rogaeva; Lorne Zinman; Jeffrey D Rothstein; Michael Sendtner; Carsten Drepper; Evan E Eichler; Can Alkan; Ziedulla Abdullaev; Svetlana D Pack; Amalia Dutra; Evgenia Pak; John Hardy; Andrew Singleton; Nigel M Williams; Peter Heutink; Stuart Pickering-Brown; Huw R Morris; Pentti J Tienari; Bryan J Traynor
Journal: Neuron Date: 2011-09-21 Impact factor: 17.173

7. Repeat expansion in C9ORF72 in Alzheimer's disease.

Authors: Elisa Majounie; Yevgeniya Abramzon; Alan E Renton; Rodney Perry; Susan S Bassett; Olga Pletnikova; Juan C Troncoso; John Hardy; Andrew B Singleton; Bryan J Traynor
Journal: N Engl J Med Date: 2012-01-04 Impact factor: 91.245

8. SNCA variants are associated with increased risk for multiple system atrophy.

Authors: Sonja W Scholz; Henry Houlden; Claudia Schulte; Manu Sharma; Abi Li; Daniela Berg; Anna Melchers; Reema Paudel; J Raphael Gibbs; Javier Simon-Sanchez; Coro Paisan-Ruiz; Jose Bras; Jinhui Ding; Honglei Chen; Bryan J Traynor; Sampath Arepalli; Ryan R Zonozi; Tamas Revesz; Janice Holton; Nick Wood; Andrew Lees; Wolfgang Oertel; Ullrich Wüllner; Stefano Goldwurm; Maria Teresa Pellecchia; Thomas Illig; Olaf Riess; Hubert H Fernandez; Ramon L Rodriguez; Michael S Okun; Werner Poewe; Gregor K Wenning; John A Hardy; Andrew B Singleton; Francesca Del Sorbo; Susanne Schneider; Kailash P Bhatia; Thomas Gasser
Journal: Ann Neurol Date: 2009-05 Impact factor: 10.422

8 in total

12 in total

1. C9ORF72 intermediate repeat expansion in patients affected by atypical parkinsonian syndromes or Parkinson's disease complicated by psychosis or dementia in a Sardinian population.

Authors: Antonino Cannas; Paolo Solla; Giuseppe Borghero; Gian Luca Floris; Adriano Chio; Marcello Mario Mascia; Nicola Modugno; Antonella Muroni; Gianni Orofino; Francesca Di Stefano; Andrea Calvo; Cristina Moglia; Gabriella Restagno; Mario Meloni; Rita Farris; Daniela Ciaccio; Roberta Puddu; Melisa Iris Vacca; Rosanna Melis; Maria Rita Murru; Stefania Tranquilli; Daniela Corongiu; Marcella Rolesu; Stefania Cuccu; Maria Giovanna Marrosu; Francesco Marrosu
Journal: J Neurol Date: 2015-08-15 Impact factor: 4.849

Multiple system atrophy is not caused by C9orf72 hexanucleotide repeat expansions.

1. Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS.

2. Mutant COQ2 in multiple-system atrophy.

3. Psychosis and hallucinations in frontotemporal dementia with the C9ORF72 mutation: a detailed clinical cohort.

4. Corticobasal and ataxia syndromes widen the spectrum of C9ORF72 hexanucleotide expansion disease.

5. Multiple system atrophy and amyotrophic lateral sclerosis in a family with hexanucleotide repeat expansions in C9orf72.

6. A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD.

7. Repeat expansion in C9ORF72 in Alzheimer's disease.

8. SNCA variants are associated with increased risk for multiple system atrophy.

1. C9ORF72 intermediate repeat expansion in patients affected by atypical parkinsonian syndromes or Parkinson's disease complicated by psychosis or dementia in a Sardinian population.

2. C9ORF72 repeat expansions in Chinese patients with Parkinson's disease and multiple system atrophy.

Review 3. Multiple System Atrophy - State of the Art.

Review 4. Multiple system atrophy: pathogenic mechanisms and biomarkers.

Review 5. C9orf72 and its Relevance in Parkinsonism and Movement Disorders: A Comprehensive Review of the Literature.

6. Expanding the Spectrum of Movement Disorders Associated With C9orf72 Hexanucleotide Expansions.

Review 7. Multiple system atrophy: genetic risks and alpha-synuclein mutations.

Review 8. Intermediate C9orf72 alleles in neurological disorders: does size really matter?

Review 9. Multiple system atrophy: the application of genetics in understanding etiology.

Review 10. Multiple System Atrophy: An Oligodendroglioneural Synucleinopathy1.