Literature DB >> 17960815

Adult-onset Alexander disease with progressive ataxia and palatal tremor.

Katherine L Howard1, Deborah A Hall, Michelle Moon, Pinky Agarwal, Elizabeth Newman, Michael Brenner.   

Abstract

A novel glial fibrillary acidic protein (GFAP) mutation, Y257C, is reported in a patient with adult-onset Alexander disease. This is the oldest reported case with confirmation of a GFAP mutation. Onset was late in the sixth decade. Genetic analysis of the GFAP gene is recommended in cases of progressive ataxia and palatal tremor. 2007 Movement Disorder Society

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Year:  2008        PMID： 17960815     DOI： 10.1002/mds.21774

Source DB:  PubMed          Journal:  Mov Disord        ISSN： 0885-3185            Impact factor:   10.338


  15 in total

1.  Adult-onset Alexander disease with an R66Q mutation in GFAP presented with severe vocal cord paralysis during sleep.

Authors:  Ayumi Hida; Hiroyuki Ishiura; Noritoshi Arai; Hisayo Fukuoka; Kanehiro Hasuo; Jun Goto; Yoshikazu Uesaka; Shoji Tsuji; Sousuke Takeuchi
Journal:  J Neurol       Date:  2012-05-23       Impact factor: 4.849

2.  Familial Adult-onset Alexander Disease: Clinical and Neuroradiological Findings of Three Cases.

Authors:  Ayşe Deniz Elmali; Ümran Çetinçelik; Civan Işlak; Nurten Uzun Adatepe; Feray Karaali Savrun; Cengiz Yalçinkaya
Journal:  Noro Psikiyatr Ars       Date:  2016-06-01       Impact factor: 1.339

Review 3.  Acquired pendular nystagmus.

Authors:  Sarah Kang; Aasef G Shaikh
Journal:  J Neurol Sci       Date:  2017-01-10       Impact factor: 3.181

4.  Myoclonic disorders: a practical approach for diagnosis and treatment.

Authors:  Maja Kojovic; Carla Cordivari; Kailash Bhatia
Journal:  Ther Adv Neurol Disord       Date:  2011-01       Impact factor: 6.570

5.  Can MR imaging diagnose adult-onset Alexander disease?

Authors:  L Farina; D Pareyson; L Minati; I Ceccherini; L Chiapparini; S Romano; P Gambaro; R Fancellu; M Savoiardo
Journal:  AJNR Am J Neuroradiol       Date:  2008-04-03       Impact factor: 3.825

Review 6.  Adult-onset Alexander disease with typical "tadpole" brainstem atrophy and unusual bilateral basal ganglia involvement: a case report and review of the literature.

Authors:  Michito Namekawa; Yoshihisa Takiyama; Junko Honda; Haruo Shimazaki; Kumi Sakoe; Imaharu Nakano
Journal:  BMC Neurol       Date:  2010-04-01       Impact factor: 2.474

Review 7.  Autonomic dysfunction in adult-onset alexander disease: a case report and review of the literature.

Authors:  Scott D Spritzer; Srijana Zarkou; Stephen P Ireland; Jonathon L Carter; Brent P Goodman
Journal:  Clin Auton Res       Date:  2013-08-08       Impact factor: 4.435

Review 8.  Consensus Statement on the classification of tremors. from the task force on tremor of the International Parkinson and Movement Disorder Society.

Authors:  Kailash P Bhatia; Peter Bain; Nin Bajaj; Rodger J Elble; Mark Hallett; Elan D Louis; Jan Raethjen; Maria Stamelou; Claudia M Testa; Guenther Deuschl
Journal:  Mov Disord       Date:  2017-11-30       Impact factor: 10.338

9.  Psychogenic palatal tremor may be underrecognized: reappraisal of a large series of cases.

Authors:  Maria Stamelou; Tabish A Saifee; Mark J Edwards; Kailash P Bhatia
Journal:  Mov Disord       Date:  2012-03-20       Impact factor: 10.338

10.  Progressive ataxia with oculo-palatal tremor and optic atrophy.

Authors:  M M Papachatzaki; N Ali; Q Arshad; S Cader; I Peppas; C Everett; A M Bronstein; K Schmierer
Journal:  J Neurol       Date:  2013-10-08       Impact factor: 4.849
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