Literature DB >> 16971399

A novel amyloidogenic transthyretin variant, Gly53Ala, associated with intermittent headaches and ataxia.

C Douglass1, K Suvarna, M M Reilly, P N Hawkins, M Hadjivassiliou.   

Abstract

We report a novel transthyretin variant, Gly53Ala, in a 44-year-old British woman who presented with severe episodic headaches, often with focal neurological deficit, before developing progressive ataxia, depression, dementia and eventually peripheral neuropathy. Transthyretin amyloidosis was confirmed on biopsy of the heart muscle. Serum amyloid P component scintigraphy did not show visceral amyloid in extra-cardiac sites, but magnetic resonance imaging indicated diffuse leptomeningeal amyloidosis.

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Year:  2006        PMID： 16971399      PMCID： PMC2077663          DOI： 10.1136/jnnp.2006.093500

Source DB:  PubMed          Journal:  J Neurol Neurosurg Psychiatry        ISSN： 0022-3050            Impact factor:   10.154


  13 in total

1.  Recurrent subarachnoid hemorrhage associated with a new transthyretin variant (Gly53Glu).

Authors:  E Ellie; F Camou; A Vital; C Rummens; G Grateau; M Delpech; S Valleix
Journal:  Neurology       Date:  2001-07-10       Impact factor: 9.910

2.  MRI analysis on a patient with the V30M mutation is characteristic of leptomeningeal amyloid.

Authors:  Shigeaki Mitsuhashi; Masahide Yazaki; Takahiko Tokuda; Kanji Yamamoto; Shu-ichi Ikeda
Journal:  Amyloid       Date:  2004-12       Impact factor: 7.141

3.  Transthyretin Leu12Pro is associated with systemic, neuropathic and leptomeningeal amyloidosis.

Authors:  M Brett; M R Persey; M M Reilly; T Revesz; D R Booth; S E Booth; P N Hawkins; M B Pepys; J A Morgan-Hughes
Journal:  Brain       Date:  1999-02       Impact factor: 13.501

4.  The course and prognostic factors of familial amyloid polyneuropathy after liver transplantation.

Authors:  D Adams; D Samuel; C Goulon-Goeau; M Nakazato; P M Costa; C Feray; V Planté; B Ducot; P Ichai; C Lacroix; S Metral; H Bismuth; G Said
Journal:  Brain       Date:  2000-07       Impact factor: 13.501

5.  Massive leptomeningeal amyloidosis associated with a Val30Met transthyretin gene.

Authors:  M K Herrick; K DeBruyne; D S Horoupian; J Skare; M A Vanefsky; T Ong
Journal:  Neurology       Date:  1996-10       Impact factor: 9.910

6.  Oculoleptomeningeal amyloidosis in a large kindred with a new transthyretin variant Tyr69His.

Authors:  G Blevins; R Macaulay; S Harder; D Fladeland; T Yamashita; M Yazaki; K Hamidi Asl; M D Benson; J R Donat
Journal:  Neurology       Date:  2003-05-27       Impact factor: 9.910

7.  A different amyloid formation mechanism: de novo oculoleptomeningeal amyloid deposits after liver transplantation.

Authors:  Yukio Ando; Hisayasu Terazaki; Masaaki Nakamura; Eiko Ando; Katsuki Haraoka; Taro Yamashita; Mitsuharu Ueda; Hiroaki Okabe; Yutaka Sasaki; Hidenobu Tanihara; Makoto Uchino; Yukihiro Inomata
Journal:  Transplantation       Date:  2004-02-15       Impact factor: 4.939

Review 8.  Liver transplantation in transthyretin-related familial amyloid polyneuropathy.

Authors:  Arie J Stangou; Philip N Hawkins
Journal:  Curr Opin Neurol       Date:  2004-10       Impact factor: 5.710

9.  Thyroxine transport from blood to brain via transthyretin synthesis in choroid plexus.

Authors:  G Schreiber; A R Aldred; A Jaworowski; C Nilsson; M G Achen; M B Segal
Journal:  Am J Physiol       Date:  1990-02

10.  High levels of messenger RNA for transthyretin (prealbumin) in human choroid plexus.

Authors:  P W Dickson; G Schreiber
Journal:  Neurosci Lett       Date:  1986-05-23       Impact factor: 3.046
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  6 in total

Review 1.  Current and future treatment of amyloid diseases.

Authors:  M Ankarcrona; B Winblad; C Monteiro; C Fearns; E T Powers; J Johansson; G T Westermark; J Presto; B-G Ericzon; J W Kelly
Journal:  J Intern Med       Date:  2016-05-10       Impact factor: 8.989

2.  The identification of a transthyretin variant p.D38G in a Chinese family with early-onset leptomeningeal amyloidosis.

Authors:  Kuan Fan; Haixia Zhu; Hongbo Xu; Ping Mao; Lamei Yuan; Hao Deng
Journal:  J Neurol       Date:  2018-11-23       Impact factor: 4.849

3.  Disruption of the CD Loop by Enzymatic Cleavage Promotes the Formation of Toxic Transthyretin Oligomers through a Common Transthyretin Misfolding Pathway.

Authors:  Anvesh K R Dasari; Jenette Arreola; Brian Michael; Robert G Griffin; Jeffery W Kelly; Kwang Hun Lim
Journal:  Biochemistry       Date:  2020-06-14       Impact factor: 3.162

Review 4.  Current Review of Leptomeningeal Amyloidosis Associated With Transthyretin Mutations.

Authors:  Qi Qin; Cuibai Wei; YueShan Piao; Fang Lian; Hao Wu; Aihong Zhou; Fen Wang; Xiumei Zuo; Yue Han; Jihui Lyu; Dongmei Guo; Jianping Jia
Journal:  Neurologist       Date:  2021-09-07       Impact factor: 1.398

5.  Oculoleptomeningeal Amyloidosis associated with transthyretin Leu12Pro in an African patient.

Authors:  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
Journal:  J Neurol       Date:  2014-12-09       Impact factor: 4.849

Review 6.  Ocular Involvement in Hereditary Amyloidosis.

Authors:  Angelo Maria Minnella; Roberta Rissotto; Elena Antoniazzi; Marco Di Girolamo; Marco Luigetti; Martina Maceroni; Daniela Bacherini; Benedetto Falsini; Stanislao Rizzo; Laura Obici
Journal:  Genes (Basel)       Date:  2021-06-22       Impact factor: 4.096
  6 in total

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