Literature DB >> 26373951

Nervous system involvement in Farber disease.

Alberto M Cappellari1, Marta Torcoletti2, Fabio Triulzi3, Fabrizia Corona2.   

Abstract

A 30 months-old boy with Farber disease developed nystagmus 12 months after hematopoietic stem cell transplantation (HSCT). At 40 months, gait ataxia was evident, and brain MRI showed increased size of pericerebellar sulci and 4th ventricle. EMG showed denervation in the tongue and upper limb muscles, consistent with motor neuron disease. HSCT improves the peripheral manifestations of Farber disease, but may not prevent the progressive neurological deterioration.

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Year:  2015        PMID： 26373951     DOI： 10.1007/s10545-015-9890-0

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


  3 in total

1.  Farber disease in infancy resembling juvenile idiopathic arthritis: identification of two new mutations and a good early response to allogeneic haematopoietic stem cell transplantation.

Authors:  Marta Torcoletti; Antonella Petaccia; Rita Maria Pinto; Uros Hladnik; Franco Locatelli; Carlo Agostoni; Fabrizia Corona
Journal:  Rheumatology (Oxford)       Date:  2014-03-10       Impact factor: 7.580

2.  Spinal muscular atrophy associated with progressive myoclonic epilepsy is caused by mutations in ASAH1.

Authors:  Jie Zhou; Marcel Tawk; Francesco Danilo Tiziano; Julien Veillet; Monica Bayes; Flora Nolent; Virginie Garcia; Serenella Servidei; Enrico Bertini; Francesc Castro-Giner; Yavuz Renda; Stéphane Carpentier; Nathalie Andrieu-Abadie; Ivo Gut; Thierry Levade; Haluk Topaloglu; Judith Melki
Journal:  Am J Hum Genet       Date:  2012-06-14       Impact factor: 11.025

3.  Bone marrow transplantation for infantile ceramidase deficiency (Farber disease).

Authors:  A M Yeager; K A Uhas; C D Coles; P C Davis; W L Krause; H W Moser
Journal:  Bone Marrow Transplant       Date:  2000-08       Impact factor: 5.483
  3 in total
  4 in total

1.  Acid Ceramidase Deficiency in Mice Results in a Broad Range of Central Nervous System Abnormalities.

Authors:  Jakub Sikora; Shaalee Dworski; E Ellen Jones; Mustafa A Kamani; Matthew C Micsenyi; Tomo Sawada; Pauline Le Faouder; Justine Bertrand-Michel; Aude Dupuy; Christopher K Dunn; Ingrid Cong Yang Xuan; Josefina Casas; Gemma Fabrias; David R Hampson; Thierry Levade; Richard R Drake; Jeffrey A Medin; Steven U Walkley
Journal:  Am J Pathol       Date:  2017-04       Impact factor: 4.307

2.  A cross-sectional quantitative analysis of the natural history of Farber disease: an ultra-orphan condition with rheumatologic and neurological cardinal disease features.

Authors:  Matthias Zielonka; Sven F Garbade; Stefan Kölker; Georg F Hoffmann; Markus Ries
Journal:  Genet Med       Date:  2017-10-19       Impact factor: 8.822

Review 3.  Lipid Involvement in Neurodegenerative Diseases of the Motor System: Insights from Lysosomal Storage Diseases.

Authors:  James C Dodge
Journal:  Front Mol Neurosci       Date:  2017-11-03       Impact factor: 5.639

4.  Farber disease: report of three cases with joint involvement mimicking juvenile idiopathic arthritis.

Authors:  Soheila Hoseinzadeh Moghadam; Ali Reza Tavasoli; Mohammadreza Modaresi; Vahid Ziaee
Journal:  J Musculoskelet Neuronal Interact       Date:  2019-12-01       Impact factor: 2.041
  4 in total

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