Literature DB >> 24417314

Slowly progressive frontotemporal lobar degeneration caused by the C9ORF72 repeat expansion: a 20-year follow-up study.

N-M Suhonen1, A-L Kaivorinne, V Moilanen, M Bode, R Takalo, T Hänninen, A M Remes.   

Abstract

A hexanucleotide expansion in chromosome 9 open-reading frame 72 (C9ORF72) has been found to be a major cause of frontotemporal lobar degeneration (FTLD). We describe a 20-year follow-up of a unique case with very slowly progressive FTLD caused by the C9ORF72 repeat expansion. In serial neuropsychological examinations, the patient's cognitive decline was exceptionally slow and after 20 years the patient still was mainly independent in activities of daily living. Our case indicates that there is great individual variation in the progression and duration of C9ORF72-associated FTLD, and also language variants or mixed phenotypes may be present.

Entities:  

Keywords:  cognition; frontotemporal dementia; genetics; neuropsychology; semantic dementia

Mesh：

Substances：

Year:  2014        PMID： 24417314     DOI： 10.1080/13554794.2013.873057

Source DB:  PubMed          Journal:  Neurocase        ISSN： 1355-4794            Impact factor:   0.881


  10 in total

Review 1.  C9ORF72 hexanucleotide repeats in behavioral and motor neuron disease: clinical heterogeneity and pathological diversity.

Authors:  Jennifer S Yokoyama; Daniel W Sirkis; Bruce L Miller
Journal:  Am J Neurodegener Dis       Date:  2014-03-28

Review 2.  The imaging signature of C9orf72 hexanucleotide repeat expansions: implications for clinical trials and therapy development.

Authors:  Stacey Li Hi Shing; Mary Clare McKenna; We Fong Siah; Rangariroyashe H Chipika; Orla Hardiman; Peter Bede
Journal:  Brain Imaging Behav       Date:  2021-01-05       Impact factor: 3.978

3.  Timing and significance of pathological features in C9orf72 expansion-associated frontotemporal dementia.

Authors:  Sarat C Vatsavayai; Soo Jin Yoon; Raquel C Gardner; Tania F Gendron; Jose Norberto S Vargas; Andrew Trujillo; Mochtar Pribadi; Joanna J Phillips; Stephanie E Gaus; John D Hixson; Paul A Garcia; Gil D Rabinovici; Giovanni Coppola; Daniel H Geschwind; Leonard Petrucelli; Bruce L Miller; William W Seeley
Journal:  Brain       Date:  2016-10-22       Impact factor: 13.501

Review 4.  The behavioural variant frontotemporal dementia (bvFTD) syndrome in psychiatry.

Authors:  Serggio C Lanata; Bruce L Miller
Journal:  J Neurol Neurosurg Psychiatry       Date:  2015-07-27       Impact factor: 10.154

5.  Early Cognitive, Structural, and Microstructural Changes in Presymptomatic C9orf72 Carriers Younger Than 40 Years.

Authors:  Anne Bertrand; Junhao Wen; Daisy Rinaldi; Marion Houot; Sabrina Sayah; Agnès Camuzat; Clémence Fournier; Sabrina Fontanella; Alexandre Routier; Philippe Couratier; Florence Pasquier; Marie-Odile Habert; Didier Hannequin; Olivier Martinaud; Paola Caroppo; Richard Levy; Bruno Dubois; Alexis Brice; Stanley Durrleman; Olivier Colliot; Isabelle Le Ber
Journal:  JAMA Neurol       Date:  2018-02-01       Impact factor: 18.302

6.  Presymptomatic cognitive and neuroanatomical changes in genetic frontotemporal dementia in the Genetic Frontotemporal dementia Initiative (GENFI) study: a cross-sectional analysis.

Authors:  Jonathan D Rohrer; Jennifer M Nicholas; David M Cash; John van Swieten; Elise Dopper; Lize Jiskoot; Rick van Minkelen; Serge A Rombouts; M Jorge Cardoso; Shona Clegg; Miklos Espak; Simon Mead; David L Thomas; Enrico De Vita; Mario Masellis; Sandra E Black; Morris Freedman; Ron Keren; Bradley J MacIntosh; Ekaterina Rogaeva; David Tang-Wai; Maria Carmela Tartaglia; Robert Laforce; Fabrizio Tagliavini; Pietro Tiraboschi; Veronica Redaelli; Sara Prioni; Marina Grisoli; Barbara Borroni; Alessandro Padovani; Daniela Galimberti; Elio Scarpini; Andrea Arighi; Giorgio Fumagalli; James B Rowe; Ian Coyle-Gilchrist; Caroline Graff; Marie Fallström; Vesna Jelic; Anne Kinhult Ståhlbom; Christin Andersson; Håkan Thonberg; Lena Lilius; Giovanni B Frisoni; Michela Pievani; Martina Bocchetta; Luisa Benussi; Roberta Ghidoni; Elizabeth Finger; Sandro Sorbi; Benedetta Nacmias; Gemma Lombardi; Cristina Polito; Jason D Warren; Sebastien Ourselin; Nick C Fox; Martin N Rossor; Giuliano Binetti
Journal:  Lancet Neurol       Date:  2015-02-04       Impact factor: 44.182

7.  Clinical Update on C9orf72: Frontotemporal Dementia, Amyotrophic Lateral Sclerosis, and Beyond.

Authors:  Dario Saracino; Isabelle Le Ber
Journal:  Adv Exp Med Biol       Date:  2021       Impact factor: 2.622

Review 8.  Phenocopy syndrome of behavioral variant frontotemporal dementia: a systematic review.

Authors:  Elizabeth Sakamoto Valente; Paulo Caramelli; Leandro Boson Gambogi; Luciano Inácio Mariano; Henrique Cerqueira Guimarães; Antônio Lúcio Teixeira; Leonardo Cruz de Souza
Journal:  Alzheimers Res Ther       Date:  2019-04-01       Impact factor: 6.982

9.  Frequency and Longitudinal Course of Motor Signs In Genetic Frontotemporal Dementia.

Authors:  Sonja Schönecker; Francisco J Martinez-Murcia; Boris-Stephan Rauchmann; Nicolai Franzmeier; Catharina Prix; Elisabeth Wlasich; Sandra V Loosli; Katja Bochmann; Juan-Manuel Gorriz Saez; Robert Laforce; Simon Ducharme; Maria Carmela Tartaglia; Elizabeth Finger; Alexandre de Mendonça; Isabel Santana; Raquel Sanchez-Valle; Fermin Moreno; Sandro Sorbi; Fabrizio Tagliavini; Barbara Borroni; Markus Otto; Matthis Synofzik; Daniela Galimberti; Rik Vandenberghe; John van Swieten; Christopher Butler; Alexander Gerhard; Caroline Graff; Adrian Danek; Jonathan D Rohrer; Mario Masellis; James Rowe; Johannes Levin
Journal:  Neurology       Date:  2022-08-10       Impact factor: 11.800

10.  Presymptomatic white matter integrity loss in familial frontotemporal dementia in the GENFI cohort: A cross-sectional diffusion tensor imaging study.

Authors:  Lize C Jiskoot; Martina Bocchetta; Jennifer M Nicholas; David M Cash; David Thomas; Marc Modat; Sebastien Ourselin; Serge A R B Rombouts; Elise G P Dopper; Lieke H Meeter; Jessica L Panman; Rick van Minkelen; Emma L van der Ende; Laura Donker Kaat; Yolande A L Pijnenburg; Barbara Borroni; Daniela Galimberti; Mario Masellis; Maria Carmela Tartaglia; James Rowe; Caroline Graff; Fabrizio Tagliavini; Giovanni B Frisoni; Robert Laforce; Elizabeth Finger; Alexandre de Mendonça; Sandro Sorbi; Janne M Papma; John C van Swieten; Jonathan D Rohrer
Journal:  Ann Clin Transl Neurol       Date:  2018-07-11       Impact factor: 4.511
  10 in total

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