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Amyloid
The Journal of Protein Folding Disorders
Volume 14, 2007 - Issue 1
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Original

Severe ataxia with neuropathy in hereditary gelsolin amyloidosis: A case report

Dr Maarit Tanskanen Department of Pathology, University of Helsinki and Helsinki University Central Hospital, Helsinki, FinlandCorrespondence[email protected]
,
Anders Paetau Department of Pathology, University of Helsinki and Helsinki University Central Hospital, Helsinki, Finland
,
Oili Salonen Department of Radiology
,
Tapani Salmi Department of Neurophysiology, Helsinki University Central Hospital, Helsinki, Finland
,
Antti Lamminen Department of Radiology
,
Perttu Lindsberg Neurosciences Programme, Biomedicum Helsinki, Helsinki, Finland; Department of Neurology, Helsinki University Central Hospital, Helsinki, Finland
,
Hannu Somer Department of Neurology, Helsinki University Central Hospital, Helsinki, Finland
&
Sari Kiuru-Enari Neurosciences Programme, Biomedicum Helsinki, Helsinki, Finland; Department of Neurology, Helsinki University Central Hospital, Helsinki, Finland
 show all
Pages 89-95 | Published online: 06 Jul 2009

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Tiia Pihlamaa, Sinikka Suominen, Sari Kiuru-Enari & Maarit Tanskanen. (2016) Increasing amount of amyloid are associated with the severity of clinical features in hereditary gelsolin (AGel) amyloidosis. Amyloid 23:4, pages 225-233.
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Tuuli Nikoskinen, Eeva-Kaisa Schmidt, Daniel Strbian, Sari Kiuru-Enari & Sari Atula. (2015) Natural course of Finnish gelsolin amyloidosis. Annals of Medicine 47:6, pages 506-511.
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Pirjo Juusela, Maarit Tanskanen, Anja Nieminen, Kirsti Kari, Liisa Suominen, Veli-Jukka Uitto & Sari Kiuru-Enari. (2013) Xerostomia in hereditary gelsolin amyloidosis. Amyloid 20:1, pages 39-44.
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Tiia Pihlamaa, Sinikka Suominen & Sari Kiuru-Enari. (2012) Familial amyloidotic polyneuropathy type IV – gelsolin amyloidosis. Amyloid 19:sup1, pages 30-33.
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James P. Solomon, Lesley J. Page, William E. Balch & Jeffery W. Kelly. (2012) Gelsolin amyloidosis: genetics, biochemistry, pathology and possible strategies for therapeutic intervention. Critical Reviews in Biochemistry and Molecular Biology 47:3, pages 282-296.
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Articles from other publishers (22)

Inês Antunes Cunha, Ana Brás, Fátima Silva & Anabela Matos. (2022) Familial amyloidosis of the Finnish type: clinical and neurophysiological features of two index cases. BMJ Case Reports 15:11, pages e245764.
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Hossein Aghamollaei, Shahram Parvin & Alireza Shahriary. (2020) Review of proteomics approach to eye diseases affecting the anterior segment. Journal of Proteomics 225, pages 103881.
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Pooja Raibagkar & Nagagopal Venna. 2019. Neurorheumatology. Neurorheumatology 249 258 .
Susanna Koskelainen, Tiia Pihlamaa, Sinikka Suominen, Fang Zhao, Tuula Salo, Juha Risteli, Marc Baumann, Hannu Kalimo & Sari Kiuru‐Enari. (2016) Gelsolin amyloid angiopathy causes severe disruption of the arterial wall. APMIS 124:8, pages 639-648.
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Kyoung-Jin Park, Jong-Ho Park, June-Hee Park, Eun Bin Cho, Byoung Joon Kim & Jong-Won Kim. (2016) The First Korean Family With Hereditary Gelsolin Amyloidosis Caused by p.D214Y Mutation in the GSN Gene. Annals of Laboratory Medicine 36:3, pages 259-262.
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Pirjo L. Juusela, Rutger G. Persson, Anja R. Nieminen, Sari M. Kiuru-Enari & Veli-Jukka Uitto. (2014) Relation of gelsolin amyloidosis and periodontal health. Clinical Oral Investigations 19:2, pages 229-235.
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Myron Yanoff & Joseph W. Sassani. 2015. Ocular Pathology. Ocular Pathology 227 297.e14 .
Tae Hyup KimJi Hyun BaeDong Hui LimEui Sang ChungTae Young Chung. (2013) Lattice Corneal Dystrophy, Gelsolin Type: The First Case Report in Korea. Journal of the Korean Ophthalmological Society 54:4, pages 667.
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Sari Kiuru-Enari & Matti Haltia. 2013. Peripheral Nerve Disorders. Peripheral Nerve Disorders 659 681 .
Makiko Taira, Hiroyuki Ishiura, Jun Mitsui, Yuji Takahashi, Toshihiro Hayashi, Jun Shimizu, Takashi Matsukawa, Naoko Saito, Kazumasa Okada, Sadatoshi Tsuji, Hiromasa Sawamura, Shiro Amano, Jun Goto & Shoji Tsuji. (2012) Clinical features and haplotype analysis of newly identified Japanese patients with gelsolin-related familial amyloidosis of Finnish type. neurogenetics 13:3, pages 237-243.
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P. Kerschen & V. Planté-Bordeneuve. (2012) Neuropatie amiloidi familiari. EMC - Neurologia 12:1, pages 1-12.
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Violaine Planté-Bordeneuve & Gerard Said. (2011) Familial amyloid polyneuropathy. The Lancet Neurology 10:12, pages 1086-1097.
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Ajay K. Mahalka, C. Peter J. Maury & Paavo K. J. Kinnunen. (2011) 1-Palmitoyl-2-(9′-oxononanoyl)- sn -glycero-3-phosphocholine, an Oxidized Phospholipid, Accelerates Finnish Type Familial Gelsolin Amyloidosis in Vitro . Biochemistry 50:22, pages 4877-4889.
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P. Kerschen & V. Planté-Bordeneuve. (2011) Neuropathies amyloïdes familiales. EMC - Neurologie 8:4, pages 1-12.
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Zachary Simmons & Charles S Specht. (2010) The Neuromuscular Manifestations of Amyloidosis. Journal of Clinical Neuromuscular Disease 11:3, pages 145-157.
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David Weedon. 2010. Weedon's Skin Pathology. Weedon's Skin Pathology 369 396.e20 .
David Weedon. 2010. Weedon's Skin Pathology. Weedon's Skin Pathology 331 351.e13 .
David Weedon. 2010. Weedon's Skin Pathology. Weedon's Skin Pathology 281 299.e18 .
David Weedon. 2010. Weedon's Skin Pathology. Weedon's Skin Pathology 195 244.e49 .
Christian Carrwik & Ulf Stenevi. (2009) Lattice corneal dystrophy, gelsolin type (Meretojaâs syndrome). Acta Ophthalmologica 87:8, pages 813-819.
Crossref
. (2008) Hereditary amyloid neuropathy by transthyretin Val107 mutation in a patient of African origin. Journal of the Peripheral Nervous System 13:3, pages 251-254.
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Desire Tshala-Katumbay, Victor Monterroso, Robert Kayton, Michael Lasarev, Mohammad Sabri & Peter Spencer. (2008) Probing Mechanisms of Axonopathy. Part I: Protein Targets of 1,2-Diacetylbenzene, the Neurotoxic Metabolite of Aromatic Solvent 1,2-Diethylbenzene. Toxicological Sciences 105:1, pages 134-141.
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