| Literature DB >> 11377002 |
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.Entities:
Mesh:
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