Literature DB >> 15390001

Dominantly-inherited adult-onset leukodystrophy with palatal tremor caused by a mutation in the glial fibrillary acidic protein gene.

Dominic Thyagarajan1, Timothy Chataway, Rong Li, Wei Ping Gai, Michael Brenner.   

Abstract

We report on a pedigree of dominantly-inherited, adult-onset Alexander disease caused by the glial fibrillary acidic protein (GFAP) gene mutation, R416W. This pedigree highlights the importance of genetic analysis of the GFAP gene in leukodystrophy with palatal tremor. (c) 2004 Movement Disorder Society.

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Year:  2004        PMID： 15390001     DOI： 10.1002/mds.20161

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


  17 in total

Review 1.  The clinical spectrum of late-onset Alexander disease: a systematic literature review.

Authors:  Pietro Balbi; Silvana Salvini; Cira Fundarò; Giuseppe Frazzitta; Roberto Maestri; Dibo Mosah; Carla Uggetti; GianPietro Sechi
Journal:  J Neurol       Date:  2010-08-20       Impact factor: 4.849

Review 2.  GFAP and its role in Alexander disease.

Authors:  Roy A Quinlan; Michael Brenner; James E Goldman; Albee Messing
Journal:  Exp Cell Res       Date:  2007-04-06       Impact factor: 3.905

3.  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

4.  MR characteristics and neuropathology in adult-onset autosomal dominant leukodystrophy with autonomic symptoms.

Authors:  A Melberg; L Hallberg; H Kalimo; R Raininko
Journal:  AJNR Am J Neuroradiol       Date:  2006-04       Impact factor: 3.825

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

7.  Adult-onset Alexander disease : report on a family.

Authors:  Pietro Balbi; Marco Seri; Isabella Ceccherini; Carla Uggetti; Roberto Casale; Cira Fundarò; Francesco Caroli; Lucio Santoro
Journal:  J Neurol       Date:  2007-11-21       Impact factor: 4.849

Review 8.  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 9.  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

10.  An adult form of Alexander disease: a novel mutation in glial fibrillary acidic protein.

Authors:  K Ohnari; M Yamano; T Uozumi; T Hashimoto; S Tsuji; M Nakagawa
Journal:  J Neurol       Date:  2007-10-15       Impact factor: 4.849
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