Literature DB >> 17353317

Morphometry and 1H-MR spectroscopy of the brain stem and cerebellum in three patients with fragile X-associated tremor/ataxia syndrome.

A Ginestroni1, L Guerrini, R Della Nave, C Tessa, E Cellini, M T Dotti, P Brunori, N De Stefano, S Piacentini, M Mascalchi.   

Abstract

SUMMARY: Morphometry and spectroscopy were performed in 3 patients with fragile X-associated tremor/ataxia syndrome (FXTAS). The brain stem and cerebellum were atrophic and satisfied criteria for olivopontocerebellar atrophy in 2 patients. However, the vermis was relatively spared and the basis pontis maintained its oval shape. The only spectroscopic abnormality was a decrease of the pontine N-acetylaspartate/creatine ratio in 1 patient. Atrophy and metabolic changes in FXTAS differ to some extent from those of olivopontocerebellar atrophy.

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Year:  2007        PMID： 17353317      PMCID： PMC7977833     

Source DB:  PubMed          Journal:  AJNR Am J Neuroradiol        ISSN： 0195-6108            Impact factor:   3.825


  15 in total

1.  Spastic paraparesis, cerebellar ataxia, and intention tremor: a severe variant of FXTAS?

Authors:  S Jacquemont; A Orrico; L Galli; P K Sahota; J A Brunberg; C Anichini; M Leehey; S Schaeffer; R J Hagerman; P J Hagerman; F Tassone
Journal:  J Med Genet       Date:  2005-02       Impact factor: 6.318

Review 2.  The relationship of multiple system atrophy to sporadic olivopontocerebellar atrophy and other forms of idiopathic late-onset cerebellar atrophy.

Authors:  S Gilman; N P Quinn
Journal:  Neurology       Date:  1996-05       Impact factor: 9.910

3.  Phosphorus and proton magnetic resonance spectroscopy in episodic ataxia type 2.

Authors:  D Sappey-Marinier; A Vighetto; R Peyron; E Broussolle; A Bonmartin
Journal:  Ann Neurol       Date:  1999-08       Impact factor: 10.422

4.  Neuropathology of fragile X-associated tremor/ataxia syndrome (FXTAS).

Authors:  C M Greco; R F Berman; R M Martin; F Tassone; P H Schwartz; A Chang; B D Trapp; C Iwahashi; J Brunberg; J Grigsby; D Hessl; E J Becker; J Papazian; M A Leehey; R J Hagerman; P J Hagerman
Journal:  Brain       Date:  2005-12-05       Impact factor: 13.501

5.  Proton MR spectroscopy of the cerebellum and pons in patients with degenerative ataxia.

Authors:  Mario Mascalchi; Mirco Cosottini; Francesco Lolli; Fabrizio Salvi; Carlo Tessa; Marco Macucci; Michela Tosetti; Rosaria Plasmati; Alessandra Ferlini; Carlo Alberto Tassinari; Natale Villari
Journal:  Radiology       Date:  2002-05       Impact factor: 11.105

6.  Fragile X premutation carriers: characteristic MR imaging findings of adult male patients with progressive cerebellar and cognitive dysfunction.

Authors:  James A Brunberg; Sebastien Jacquemont; Randi J Hagerman; Elizabeth M Berry-Kravis; Jim Grigsby; Maureen A Leehey; Flora Tassone; W Ted Brown; Claudia M Greco; Paul J Hagerman
Journal:  AJNR Am J Neuroradiol       Date:  2002 Nov-Dec       Impact factor: 3.825

7.  FMR1 gene premutation is a frequent genetic cause of late-onset sporadic cerebellar ataxia.

Authors:  A Brussino; C Gellera; A Saluto; C Mariotti; C Arduino; B Castellotti; M Camerlingo; V de Angelis; L Orsi; P Tosca; N Migone; F Taroni; A Brusco
Journal:  Neurology       Date:  2005-01-11       Impact factor: 9.910

Review 8.  Magnetic resonance imaging in degenerative ataxic disorders.

Authors:  I E Ormerod; A E Harding; D H Miller; G Johnson; D MacManus; E P du Boulay; B E Kendall; I F Moseley; W I McDonald
Journal:  J Neurol Neurosurg Psychiatry       Date:  1994-01       Impact factor: 10.154

9.  Magnetic resonance imaging in hereditary and idiopathic ataxia.

Authors:  U Wüllner; T Klockgether; D Petersen; T Naegele; J Dichgans
Journal:  Neurology       Date:  1993-02       Impact factor: 9.910

10.  Olivopontocerebellar atrophy: MR diagnosis and relationship to multisystem atrophy.

Authors:  M Savoiardo; L Strada; F Girotti; R A Zimmerman; M Grisoli; D Testa; R Petrillo
Journal:  Radiology       Date:  1990-03       Impact factor: 11.105
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  4 in total

1.  Consensus paper: radiological biomarkers of cerebellar diseases.

Authors:  Leonardo Baldarçara; Stuart Currie; M Hadjivassiliou; Nigel Hoggard; Allison Jack; Andrea P Jackowski; Mario Mascalchi; Cecilia Parazzini; Kathrin Reetz; Andrea Righini; Jörg B Schulz; Alessandra Vella; Sara Jane Webb; Christophe Habas
Journal:  Cerebellum       Date:  2015-04       Impact factor: 3.847

Review 2.  Magnetic resonance imaging biomarkers in patients with progressive ataxia: current status and future direction.

Authors:  Stuart Currie; Marios Hadjivassiliou; Ian J Craven; Iain D Wilkinson; Paul D Griffiths; Nigel Hoggard
Journal:  Cerebellum       Date:  2013-04       Impact factor: 3.847

3.  Eye movements reveal impaired inhibitory control in adult male fragile X premutation carriers asymptomatic for FXTAS.

Authors:  Ling M Wong; Naomi J Goodrich-Hunsaker; Yingratana McLennan; Flora Tassone; Melody Zhang; Susan M Rivera; Tony J Simon
Journal:  Neuropsychology       Date:  2014-04-28       Impact factor: 3.295

4.  Fragile X syndrome: a pilot proton magnetic resonance spectroscopy study in premutation carriers.

Authors:  Brian P Hallahan; Eileen M Daly; Andrew Simmons; Caroline J Moore; Kieran C Murphy; Declan D G Murphy
Journal:  J Neurodev Disord       Date:  2012-08-30       Impact factor: 4.025
  4 in total

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