Literature DB >> 22708871

Frontotemporal dementia, Parkinsonism and lower motor neuron involvement in a patient with C9ORF72 expansion.

Marco Luigetti1, Davide Quaranta, Amelia Conte, Chiara Piccininni, Serena Lattante, Angela Romano, Gabriella Silvestri, Marcella Zollino, Mario Sabatelli.   

Abstract

It has been recently reported that a large proportion of patients with familial and sporadic amyotrophic lateral sclerosis (ALS) and/or frontotemporal dementia (FTD) carries the hexanucleotide (GGGGCC) repeat expansion in the first intron of C9ORF72. We describe a patient with a complex phenotype characterized by behavioural variant of FTD, Parkinsonism and ALS with predominant lower motor neuron involvement in which the C9ORF72 expansion was detected.

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Year:  2012        PMID： 22708871     DOI： 10.3109/17482968.2012.692383

Source DB:  PubMed          Journal:  Amyotroph Lateral Scler Frontotemporal Degener        ISSN： 2167-8421            Impact factor:   4.092


  9 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

Review 2.  How do C9ORF72 repeat expansions cause amyotrophic lateral sclerosis and frontotemporal dementia: can we learn from other noncoding repeat expansion disorders?

Authors:  Marka van Blitterswijk; Mariely DeJesus-Hernandez; Rosa Rademakers
Journal:  Curr Opin Neurol       Date:  2012-12       Impact factor: 5.710

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

Authors:  Xueping Chen; Yongping Chen; Qianqian Wei; Ruwei Ou; Bei Cao; Bi Zhao; Hui-Fang Shang
Journal:  J Neural Transm (Vienna)       Date:  2016-07-29       Impact factor: 3.575

Review 4.  Emergencies in motoneuron disease.

Authors:  Josef Finsterer; Claudia Stöllberger
Journal:  Intern Emerg Med       Date:  2017-03-09       Impact factor: 3.397

5.  Parkinson disease is not associated with C9ORF72 repeat expansions.

Authors:  Matthew B Harms; Drexel Neumann; Bruno A Benitez; Breanna Cooper; David Carrell; Brad A Racette; Joel S Perlmutter; Alison Goate; Carlos Cruchaga
Journal:  Neurobiol Aging       Date:  2012-10-30       Impact factor: 4.673

Review 6.  Atypical parkinsonism in C9orf72 expansions: a case report and systematic review of 45 cases from the literature.

Authors:  Carlo Wilke; Jörn K Pomper; Saskia Biskup; Cornelia Puskás; Daniela Berg; Matthis Synofzik
Journal:  J Neurol       Date:  2016-01-25       Impact factor: 4.849

7.  Global investigation and meta-analysis of the C9orf72 (G4C2)n repeat in Parkinson disease.

Authors:  Jessie Theuns; Aline Verstraeten; Kristel Sleegers; Eline Wauters; Ilse Gijselinck; Stefanie Smolders; David Crosiers; Ellen Corsmit; Ellen Elinck; Manu Sharma; Rejko Krüger; Suzanne Lesage; Alexis Brice; Sun Ju Chung; Mi-Jung Kim; Young Jin Kim; Owen A Ross; Zbigniew K Wszolek; Ekaterina Rogaeva; Zhengrui Xi; Anthony E Lang; Christine Klein; Anne Weissbach; George D Mellick; Peter A Silburn; Georgios M Hadjigeorgiou; Efthimios Dardiotis; Nobutaka Hattori; Kotaro Ogaki; Eng-King Tan; Yi Zhao; Jan Aasly; Enza Maria Valente; Simona Petrucci; Grazia Annesi; Aldo Quattrone; Carlo Ferrarese; Laura Brighina; Angela Deutschländer; Andreas Puschmann; Christer Nilsson; Gaëtan Garraux; Mark S LeDoux; Ronald F Pfeiffer; Magdalena Boczarska-Jedynak; Grzegorz Opala; Demetrius M Maraganore; Sebastiaan Engelborghs; Peter Paul De Deyn; Patrick Cras; Marc Cruts; Christine Van Broeckhoven
Journal:  Neurology       Date:  2014-10-17       Impact factor: 9.910

Review 8.  Characterization of Movement Disorder Phenomenology in Genetically Proven, Familial Frontotemporal Lobar Degeneration: A Systematic Review and Meta-Analysis.

Authors:  Carmen Gasca-Salas; Mario Masellis; Edwin Khoo; Binit B Shah; David Fisman; Anthony E Lang; Galit Kleiner-Fisman
Journal:  PLoS One       Date:  2016-04-21       Impact factor: 3.240

Review 9.  Autophagy and ALS: mechanistic insights and therapeutic implications.

Authors:  Jason P Chua; Hortense De Calbiac; Edor Kabashi; Sami J Barmada
Journal:  Autophagy       Date:  2021-05-31       Impact factor: 16.016
  9 in total

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