Neuroaxonal Dystrophy

Abstract

The clinical, pathological and biochemical findings in two brothers with a newly recognized form of infantile neuroaxonal dystrophy associated with alpha-N-acetylgalactosaminidase deficiency are reported from the Divisions of Medical and Molecular Genetics and Neuropathology, Mount Sinai School of Medicine, New York; Department of Chemistry, University of Alberta, Edmonton, Canada; Department of Physiological Chemistry, University of Bonn, Federal Republic of Germany; and Department of Hunan Genetics, University of Wurzburg, Federal Republic of Germany.

Keywords

• alpha-n-acetylgalactosaminidase
• neuroaxonal dystrophies
• hallervorden-spatz syndrome