Literature DB >> 27413586

Amyotrophic Lateral Sclerosis with Frontotemporal Dementia in the Presence of C9orf72 Repeat Expansion-A Case Report.

Chaitanya Bonda1, Murali K Kolikonda1, Martin E Brown1, Steven Lippmann1.   

Abstract

Amyotrophic lateral sclerosis and frontotemporal dementia are significant neurodegenerative illnesses with possible genetic predispositions. The C9orf72 gene and the GGGGCC repeat expansions of it are reported to have a causative role in the expression of these conditions. We report a case of a patient with autosomal dominant amyotrophic lateral sclerosis and frontotemporal dementia (ALS-FTD) in the presence of C9orf72 repeat expansion. We believe our case further supports the theory that the presence of C9orf72 repeat expansion in patients with a family history of amyotrophic lateral sclerosis and/or frontotemporal dementia significantly increases their risk of developing either or both diseases. The development of antisense oligonucleotides that might target GGGGCC RNA sequences theoretically may have a therapeutic role in mitigating the clinical expression of these illnesses.

Entities:  

Keywords:  Amyotrophic lateral sclerosis; C9orf72 gene; GGGGCC repeat expansion; dementia; frontotemporal dementia; genetics; neurodegenerative dementia

Year:  2016        PMID： 27413586      PMCID： PMC4896828     

Source DB:  PubMed          Journal:  Innov Clin Neurosci        ISSN： 2158-8333


  10 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.  Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72.

Authors:  Adriano Chiò; Giuseppe Borghero; Gabriella Restagno; Gabriele Mora; Carsten Drepper; Bryan J Traynor; Michael Sendtner; Maura Brunetti; Irene Ossola; Andrea Calvo; Maura Pugliatti; Maria Alessandra Sotgiu; Maria Rita Murru; Maria Giovanna Marrosu; Francesco Marrosu; Kalliopi Marinou; Jessica Mandrioli; Patrizia Sola; Claudia Caponnetto; Gianluigi Mancardi; Paola Mandich; Vincenzo La Bella; Rossella Spataro; Amelia Conte; Maria Rosaria Monsurrò; Gioacchino Tedeschi; Fabrizio Pisano; Ilaria Bartolomei; Fabrizio Salvi; Giuseppe Lauria Pinter; Isabella Simone; Giancarlo Logroscino; Antonio Gambardella; Aldo Quattrone; Christian Lunetta; Paolo Volanti; Marcella Zollino; Silvana Penco; Stefania Battistini; Alan E Renton; Elisa Majounie; Yevgeniya Abramzon; Francesca Luisa Conforti; Fabio Giannini; Massimo Corbo; Mario Sabatelli
Journal:  Brain       Date:  2012-03       Impact factor: 13.501

3.  C9orf72 repeat expansions are a rare genetic cause of parkinsonism.

Authors:  Suzanne Lesage; Isabelle Le Ber; Christel Condroyer; Emmanuel Broussolle; Audrey Gabelle; Stéphane Thobois; Florence Pasquier; Karl Mondon; Patrick A Dion; Daniel Rochefort; Guy A Rouleau; Alexandra Dürr; Alexis Brice
Journal:  Brain       Date:  2013-02       Impact factor: 13.501

4.  Amyotrophic lateral sclerosis and frontotemporal dementia (ALS-FTD).

Authors:  Stefano Zago; Barbara Poletti; Claudia Morelli; Alberto Doretti; Vincenzo Silani
Journal:  Arch Ital Biol       Date:  2011-03       Impact factor: 1.000

5.  Targeting RNA foci in iPSC-derived motor neurons from ALS patients with a C9ORF72 repeat expansion.

Authors:  Dhruv Sareen; Jacqueline G O'Rourke; Pratap Meera; A K M G Muhammad; Sharday Grant; Megan Simpkinson; Shaughn Bell; Sharon Carmona; Loren Ornelas; Anais Sahabian; Tania Gendron; Leonard Petrucelli; Michael Baughn; John Ravits; Matthew B Harms; Frank Rigo; C Frank Bennett; Thomas S Otis; Clive N Svendsen; Robert H Baloh
Journal:  Sci Transl Med       Date:  2013-10-23       Impact factor: 17.956

6.  Large C9orf72 hexanucleotide repeat expansions are seen in multiple neurodegenerative syndromes and are more frequent than expected in the UK population.

Authors:  Jon Beck; Mark Poulter; Davina Hensman; Jonathan D Rohrer; Colin J Mahoney; Gary Adamson; Tracy Campbell; James Uphill; Aaron Borg; Pietro Fratta; Richard W Orrell; Andrea Malaspina; James Rowe; Jeremy Brown; John Hodges; Katie Sidle; James M Polke; Henry Houlden; Jonathan M Schott; Nick C Fox; Martin N Rossor; Sarah J Tabrizi; Adrian M Isaacs; John Hardy; Jason D Warren; John Collinge; Simon Mead
Journal:  Am J Hum Genet       Date:  2013-02-21       Impact factor: 11.025

7.  Screening for C9orf72 repeat expansions in parkinsonian syndromes.

Authors:  Tu-Hsueh Yeh; Szu-Chia Lai; Yi-Hsin Weng; Hung-Chou Kuo; Yah-Huei Wu-Chou; Chia-Ling Huang; Rou-Shayn Chen; Hsiu-Chen Chang; Bryan Traynor; Chin-Song Lu
Journal:  Neurobiol Aging       Date:  2012-10-11       Impact factor: 4.673

8.  RNA toxicity from the ALS/FTD C9ORF72 expansion is mitigated by antisense intervention.

Authors:  Christopher J Donnelly; Ping-Wu Zhang; Jacqueline T Pham; Aaron R Haeusler; Aaron R Heusler; Nipun A Mistry; Svetlana Vidensky; Elizabeth L Daley; Erin M Poth; Benjamin Hoover; Daniel M Fines; Nicholas Maragakis; Pentti J Tienari; Leonard Petrucelli; Bryan J Traynor; Jiou Wang; Frank Rigo; C Frank Bennett; Seth Blackshaw; Rita Sattler; Jeffrey D Rothstein
Journal:  Neuron       Date:  2013-10-16       Impact factor: 17.173

9.  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

10.  Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72.

Authors:  Johnathan Cooper-Knock; Christopher Hewitt; J Robin Highley; Alice Brockington; Antonio Milano; Somai Man; Joanne Martindale; Judith Hartley; Theresa Walsh; Catherine Gelsthorpe; Lynne Baxter; Gillian Forster; Melanie Fox; Joanna Bury; Kin Mok; Christopher J McDermott; Bryan J Traynor; Janine Kirby; Stephen B Wharton; Paul G Ince; John Hardy; Pamela J Shaw
Journal:  Brain       Date:  2012-03       Impact factor: 13.501
  10 in total

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