Advanced search
Publication Cover
Amyloid
The Journal of Protein Folding Disorders
Volume 16, 2009 - Issue 4
Submit an article Journal homepage
232
Views
23
CrossRef citations to date
0
Altmetric
Original Article

Report of five rare or previously unknown amyloidogenic transthyretin mutations disclosed in Sweden

Ole B. SuhrDepartment of Medicine, Umeå University Hospital, Umeå, SwedenCorrespondence[email protected]
,
Oluf AndersenDepartment of Neurology, Sahlgrenska University Hospital, Göteborg, Sweden
,
Thomas AronssonDepartment of Medicine, Section for Cardiology, Växjö Hospital, Växjö, Sweden
,
Jenni JonassonDepartment of Clinical Genetics, Umeå University Hospital, Umeå, Sweden
,
Hannu Kalimo
,
Christer LundahlDepartment of Radiology, Section for Neurology, Helsingborgs Hospital, Helsingborg, Sweden
,
Hans-Eric LundgrenDepartment of Medicine, Umeå University Hospital, Umeå, Sweden
,
Atle MelbergDepartment of Neuroscience, Neurology, Uppsala University and University Hospital, Uppsala, Sweden
,
Johan NybergDepartment of Medicine, Section for Neurology, Helsingborgs Hospital, Helsingborg, Sweden
,
Malin OlssonDepartment of Medicine, Umeå University Hospital, Umeå, Sweden
,
Arne SandbergDepartment of Clinical Neurophysiology, Uppsala University and University Hospital, Uppsala, Sweden
&
Per WestermarkDepartment of Genetics and Pathology, Rudbeck Laboratory, Uppsala University, Uppsala, Sweden
 show all
Pages 208-214 | Published online: 19 Nov 2009

Citations (23)

Keep up to date with the latest research on this topic with citation updates for this article.

Subscribe to citation updates

Read on this site (6)

Yusuke Takahashi, Kazuhiro Oguchi, Yusuke Mochizuki, Ken Takasone, Naoki Ezawa, Akira Matsushima, Nagaaki Katoh, Masahide Yazaki & Yoshiki Sekijima. (2023) Distribution and progression of cerebral amyloid angiopathy in early-onset V30M (p.V50M) hereditary ATTR amyloidosis. Amyloid 30:1, pages 109-118.
Read now
Yusuke Takahashi, Nobuhiko Ohashi, Ken Takasone, Tsuneaki Yoshinaga, Masahide Yazaki, Michael Roberts, Paul F. Glidden & Yoshiki Sekijima. (2022) CSF/plasma levels, transthyretin stabilisation and safety of multiple doses of tolcapone in subjects with hereditary ATTR amyloidosis. Amyloid 29:3, pages 190-196.
Read now
Yumi Yamada, Takao Fukushima, Satoshi Kodama, Hiroshi Shimizu, Akiyoshi Kakita, Kunihiko Makino & Yoshiki Sekijima. (2019) A case of cerebral amyloid angiopathy-type hereditary ATTR amyloidosis with Y69H (p.Y89H) variant displaying transient focal neurological episodes as the main symptom. Amyloid 26:4, pages 251-252.
Read now
Katrine M. Müllertz, Steen Baerentzen, Henrik K. Jensen & Henning Mølgaard. (2017) Phenotypic characterization of late onset cardiac amyloidosis caused by the transthyretin mutation TTRA45S, p.(Ala65Ser). Amyloid 24:1, pages 70-71.
Read now
Ole B Suhr, Sandra Gustavsson, Victoria Heldestad, Rolf Hörnsten, Per Lindqvist, Erik Nordh & Urban Wiklund. (2012) New insights into the clinical evaluation of hereditary transthyretin amyloidosis patients: a single center’s experience. Degenerative Neurological and Neuromuscular Disease 2, pages 93-106.
Read now
Sadahisa Okamoto, Ying Zhao, Per Lindqvist, Christer Backman, Bo-Göran Ericzon, Priyantha Wijayatunga, Michael Y. Henein & Ole B. Suhr. (2011) Development of cardiomyopathy after liver transplantation in Swedish hereditary transthyretin amyloidosis (ATTR) patients. Amyloid 18:4, pages 200-205.
Read now

Articles from other publishers (17)

Natsumi Saito, Yasuko Kuroha, Arika Hasegawa, Mari Tada, Akiyoshi Kakita, Kei Watanabe & Tetsuya Takahashi. (2023) Case of hereditary Y69H (p.Y89H) transthyretin variant leptomeningeal amyloidosis presenting with drop attacks and recurrent transient language disorder転倒発作と反復する一過性の言語障害を呈したY69H (p.Y89H)変異型遺伝性トランスサイレチン髄膜アミロイドーシスの1例. Rinsho Shinkeigaku 63:10, pages 650-655.
Crossref
Torsten B. Rasmussen, Bertil T. Ladefoged, Anne M. Dybro, Tor S. Clemmensen, Rikke H. Sørensen, Astrid J. Terkelsen, Henning Mølgaard, Henrik Vase & Steen H. Poulsen. (2022) Transthyretin Gene Variants and Associated Phenotypes in Danish Patients with Amyloid Cardiomyopathy. Cardiogenetics 12:1, pages 1-11.
Crossref
Sha He, Dongyun Gou, Mengwei Yuan, Jihong Guo, Xiujuan Lv, Ziqian Liu, Xiaowei Ma & Yancong Han. (2022) A Study of Familial Amyloid Polyneuropathy Induced by the TTR Val30Leu Mutation in China. European Neurology 85:6, pages 486-491.
Crossref
Luísa Sousa, Teresa Coelho & Ricardo Taipa. (2021) CNS Involvement in Hereditary Transthyretin Amyloidosis. Neurology 97:24, pages 1111-1119.
Crossref
Qi Qin, Cuibai Wei, YueShan Piao, Fang Lian, Hao Wu, Aihong Zhou, Fen Wang, Xiumei Zuo, Yue Han, Jihui Lyu, Dongmei Guo & Jianping Jia. (2021) Current Review of Leptomeningeal Amyloidosis Associated With Transthyretin Mutations. The Neurologist 26:5, pages 189-195.
Crossref
Sandra M. Díaz-Rodríguez, Daniel López-López, Manuel J. Herrero-Turrión, Ricardo Gómez-Nieto, Angel Canal-Alonso & Dolores E. Lopéz. (2020) Inferior Colliculus Transcriptome After Status Epilepticus in the Genetically Audiogenic Seizure-Prone Hamster GASH/Sal. Frontiers in Neuroscience 14.
Crossref
Pablo Cisternas, Xavier Taylor & Cristian A. Lasagna-Reeves. (2019) The Amyloid-Tau-Neuroinflammation Axis in the Context of Cerebral Amyloid Angiopathy. International Journal of Molecular Sciences 20:24, pages 6319.
Crossref
Encarnación Medina-Carmona, Isabel Betancor-Fernández, Jaime Santos, Noel Mesa-Torres, Silvia Grottelli, Cristina Batlle, Athi N Naganathan, Elisa Oppici, Barbara Cellini, Salvador Ventura, Eduardo Salido & Angel L Pey. (2019) Insight into the specificity and severity of pathogenic mechanisms associated with missense mutations through experimental and structural perturbation analyses. Human Molecular Genetics 28:1, pages 1-15.
Crossref
Armindo Fernandes, Teresa Coelho, Aurora Rodrigues, Helena Felgueiras, Pedro Oliveira, António Guimarães, Manuel Melo-Pires & Ricardo Taipa. (2019) Clinicopathological correlations of sural nerve biopsies in TTR Val30Met familial amyloid polyneuropathy. Brain Communications 1:1.
Crossref
Kuan Fan, Haixia Zhu, Hongbo Xu, Ping Mao, Lamei Yuan & Hao Deng. (2018) The identification of a transthyretin variant p.D38G in a Chinese family with early-onset leptomeningeal amyloidosis. Journal of Neurology 266:1, pages 232-241.
Crossref
Jennifer L. Ziskin, Michael D. Greicius, Wan Zhu, Anna N. Okumu, Christopher M. Adams & Edward D. Plowey. (2015) Neuropathologic analysis of Tyr69His TTR variant meningovascular amyloidosis with dementia. Acta Neuropathologica Communications 3:1.
Crossref
Urban Hellman, Hans-Erik Lundgren, Per Westermark, Christina Stafberg, Hareth Nahi, Sascha Tachlinski, Michael Guggi, Max Flogegård, Mehmet Hamid, Stefan A. Escher & Ole B. Suhr. (2015) A genealogical and clinical study of the phenotypical variation within the Swedish transthyretin His88Arg (p. His108Arg) amyloidosis family. European Journal of Medical Genetics 58:4, pages 211-215.
Crossref
Carolina Lavigne Moreira, Vanessa D. Marques, Charles M. Lourenço, Daisy I. Cabrini, Jose C. Nuñez, Ronaldo F. Herrera & Wilson MarquesJrJr. (2015) Transthyretin Asp38Tyr: a new mutation associated to a late onset neuropathy. Journal of the Peripheral Nervous System 20:1, pages 60-62.
Crossref
P. McColgan, S. Viegas, S. Gandhi, K. Bull, R. Tudor, F. Sheikh, J. Pinney, M. Fontana, D. Rowczenio, J. D. Gillmore, J. A. Gilbertson, C. J. Whelan, S. Shah, Z. Jaunmuktane, J. L. Holton, J. M. Schott, D. J. Werring, P. N. Hawkins & M. M. Reilly. (2014) Oculoleptomeningeal Amyloidosis associated with transthyretin Leu12Pro in an African patient. Journal of Neurology 262:1, pages 228-234.
Crossref
Vai Hong Fong & Amandio Vieira. (2013) Pro-oxidative effects of aggregated transthyretin in human Schwannoma cells. NeuroToxicology 39, pages 109-113.
Crossref
David Adams, Pierre Lozeron & Catherine Lacroix. (2012) Amyloid neuropathies. Current Opinion in Neurology 25:5, pages 564-572.
Crossref
Simon DJ Gibbs & Philip N Hawkins. (2010) Biochemical basis of the amyloid diseases. British Journal of Hospital Medicine 71:2, pages 70-75.
Crossref

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Order Reprints Request Corporate Permissions

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

Request Academic Permissions

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.

Related research

People also read lists articles that other readers of this article have read.

Recommended articles lists articles that we recommend and is powered by our AI driven recommendation engine.

Cited by lists all citing articles based on Crossref citations.
Articles with the Crossref icon will open in a new tab.