Literature DB >> 11377002

Four siblings with Hallervorden-Spatz disease.

U Vaher1, A Napa, A Nurmiste, A Piirsoo, H Sibul, T Talvik.   

Abstract

We reported four cases of Hallervorden-Spatz disease. All four siblings (three males and one female) in the family are affected. The first symptoms of the disease were spastic paraparesis and optic atrophy followed by trunkal dystonia and lower motor neurone involvement. The average age of the onset was 4.25 years. The diagnosis was made at the ages of 17, 14, 11 and 10 years. The diagnosis was confirmed clinically, electrophysiologically and by MRI. On MRI scans all patients demonstrated hypointense areas in globus pallidus. There is neither specific treatment nor prenatal diagnosis.

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Year:  2001        PMID: 11377002     DOI: 10.1016/s0387-7604(01)00184-x

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


  1 in total

1.  Pantothenate kinase-associated neurodegeneration: MR imaging, proton MR spectroscopy, and diffusion MR imaging findings.

Authors:  R Nuri Sener
Journal:  AJNR Am J Neuroradiol       Date:  2003-09       Impact factor: 3.825

  1 in total

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