Literature DB >> 19279282

MR imaging findings in 2 cases of late infantile GM1 gangliosidosis.

E De Grandis1, M Di Rocco, A Pessagno, E Veneselli, A Rossi.   

Abstract

SUMMARY: Late infantile GM1 gangliosidosis is a rare lysosomal disorder characterized by mental deterioration and progressive spastic, cerebellar, and extrapyramidal signs, without facial dysmorphisms and organomegaly. Neuroimaging findings have been reported in only a few cases. Here we report on predominant globus pallidus MR signal-intensity abnormalities in 2 patients with the late infantile form of GM1 gangliosidosis.

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Year:  2009        PMID： 19279282     DOI： 10.3174/ajnr.A1508

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


  11 in total

1.  Chronic GM1 Gangliosidosis with Characteristic "Wish Bone Sign" on Brain MRI. Another Type of Neurodegeneration with Brain Iron Accumulation?

Authors:  Omkar Hajirnis; Anaita Udwadia-Hegde
Journal:  Mov Disord Clin Pract       Date:  2015-06-02

2.  Sustained normalization of neurological disease after intracranial gene therapy in a feline model.

Authors:  Victoria J McCurdy; Aime K Johnson; Heather L Gray-Edwards; Ashley N Randle; Brandon L Brunson; Nancy E Morrison; Nouha Salibi; Jacob A Johnson; Misako Hwang; Ronald J Beyers; Stanley G Leroy; Stacy Maitland; Thomas S Denney; Nancy R Cox; Henry J Baker; Miguel Sena-Esteves; Douglas R Martin
Journal:  Sci Transl Med       Date:  2014-04-09       Impact factor: 17.956

3.  Magnetic resonance imaging pattern recognition in hypomyelinating disorders.

Authors:  Marjan E Steenweg; Adeline Vanderver; Susan Blaser; Alberto Bizzi; Tom J de Koning; Grazia M S Mancini; Wessel N van Wieringen; Frederik Barkhof; Nicole I Wolf; Marjo S van der Knaap
Journal:  Brain       Date:  2010-10       Impact factor: 13.501

4.  Novel Biomarkers of Human GM1 Gangliosidosis Reflect the Clinical Efficacy of Gene Therapy in a Feline Model.

Authors:  Heather L Gray-Edwards; Debra S Regier; Jamie L Shirley; Ashley N Randle; Nouha Salibi; Sarah E Thomas; Yvonne L Latour; Jean Johnston; Gretchen Golas; Annie S Maguire; Amanda R Taylor; Donald C Sorjonen; Victoria J McCurdy; Peter W Christopherson; Allison M Bradbury; Ronald J Beyers; Aime K Johnson; Brandon L Brunson; Nancy R Cox; Henry J Baker; Thomas S Denney; Miguel Sena-Esteves; Cynthia J Tifft; Douglas R Martin
Journal:  Mol Ther       Date:  2017-02-22       Impact factor: 11.454

Review 5.  In Vivo NMR Studies of the Brain with Hereditary or Acquired Metabolic Disorders.

Authors:  Erica B Sherry; Phil Lee; In-Young Choi
Journal:  Neurochem Res       Date:  2015-11-26       Impact factor: 3.996

6.  GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings.

Authors:  Anna Caciotti; Scott C Garman; Yadilette Rivera-Colón; Elena Procopio; Serena Catarzi; Lorenzo Ferri; Carmen Guido; Paola Martelli; Rossella Parini; Daniela Antuzzi; Roberta Battini; Michela Sibilio; Alessandro Simonati; Elena Fontana; Alessandro Salviati; Gulcin Akinci; Cristina Cereda; Carlo Dionisi-Vici; Francesca Deodato; Adele d'Amico; Alessandra d'Azzo; Enrico Bertini; Mirella Filocamo; Maurizio Scarpa; Maja di Rocco; Cynthia J Tifft; Federica Ciani; Serena Gasperini; Elisabetta Pasquini; Renzo Guerrini; Maria Alice Donati; Amelia Morrone
Journal:  Biochim Biophys Acta       Date:  2011-04-07

7.  Distinct progression patterns of brain disease in infantile and juvenile gangliosidoses: Volumetric quantitative MRI study.

Authors:  Igor Nestrasil; Alia Ahmed; Josephine M Utz; Kyle Rudser; Chester B Whitley; Jeanine R Jarnes-Utz
Journal:  Mol Genet Metab       Date:  2017-12-20       Impact factor: 4.797

8.  Late-infantile GM1 gangliosidosis: A case report.

Authors:  Eu Seon Noh; Hye Mi Park; Min Sun Kim; Hyung-Doo Park; Sung Yoon Cho; Dong-Kyu Jin
Journal:  Medicine (Baltimore)       Date:  2022-01-07       Impact factor: 1.889

9.  7T MRI Predicts Amelioration of Neurodegeneration in the Brain after AAV Gene Therapy.

Authors:  Heather L Gray-Edwards; Anne S Maguire; Nouha Salibi; Lauren E Ellis; Taylor L Voss; Elise B Diffie; Jey Koehler; Ashley N Randle; Amanda R Taylor; Brandon L Brunson; Thomas S Denney; Ronald J Beyers; Atoska S Gentry; Amanda L Gross; Ana R Batista; Miguel Sena-Esteves; Douglas R Martin
Journal:  Mol Ther Methods Clin Dev       Date:  2019-12-24       Impact factor: 6.698

10.  Substrate reduction therapy with Miglustat in pediatric patients with GM1 type 2 gangliosidosis delays neurological involvement: A multicenter experience.

Authors:  Rita Fischetto; Valentina Palladino; Maria M Mancardi; Thea Giacomini; Stefano Palladino; Alberto Gaeta; Maja Di Rocco; Lucia Zampini; Giuseppe Lassandro; Vito Favia; Maria E Tripaldi; Pietro Strisciuglio; Alfonso Romano; Mariasavina Severino; Amelia Morrone; Paola Giordano
Journal:  Mol Genet Genomic Med       Date:  2020-08-11       Impact factor: 2.183
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