Literature DB >> 7503394

Myopathic involvement in two cases of Hallervorden-Spatz disease.

A Malandrini1, U Bonuccelli, E Parrotta, R Ceravolo, G Berti, G C Guazzi.   

Abstract

Muscle biopsy was performed in two patients with Hallervorden-Spatz disease and increased serum creatine kinase levels. Morphological analysis showed myopathic signs such as subsarcolemmal accumulation of myeloid structures, dense bodies and debris, endomysial macrophage activation, focal necrosis and fiber splitting. We emphasize the finding of muscle involvement in Hallervorden-Spatz disease, like in other forms of neuroacanthocytosis.

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Year:  1995        PMID: 7503394     DOI: 10.1016/0387-7604(95)00039-e

Source DB:  PubMed          Journal:  Brain Dev        ISSN: 0387-7604            Impact factor:   1.961


  4 in total

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Review 2.  The neuropathology of neurodegeneration with brain iron accumulation.

Authors:  Michael C Kruer
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3.  Deficiency of the E3 ubiquitin ligase TRIM32 in mice leads to a myopathy with a neurogenic component.

Authors:  Elena Kudryashova; Jun Wu; Leif A Havton; Melissa J Spencer
Journal:  Hum Mol Genet       Date:  2009-01-19       Impact factor: 6.150

4.  Pantethine treatment is effective in recovering the disease phenotype induced by ketogenic diet in a pantothenate kinase-associated neurodegeneration mouse model.

Authors:  Dario Brunetti; Sabrina Dusi; Carla Giordano; Costanza Lamperti; Michela Morbin; Valeria Fugnanesi; Silvia Marchet; Gigliola Fagiolari; Ody Sibon; Maurizio Moggio; Giulia d'Amati; Valeria Tiranti
Journal:  Brain       Date:  2013-12-06       Impact factor: 13.501

  4 in total

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