Abstract
Two families are presented in which siblings of children affected with Hallervorden-Spatz syndrome exhibited characteristic cranial magnetic resonance imaging changes before developing clinical features of the disease. Linkage to a major locus on chromosome 20p supported the diagnosis of Hallervorden-Spatz syndrome. In some patients with Hallervorden-Spatz syndrome, iron is radiographically evident before the onset of clinical symptoms.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 166-169 |
| Number of pages | 4 |
| Journal | Pediatric Neurology |
| Volume | 25 |
| Issue number | 2 |
| DOIs | |
| State | Published - 2001 |
Funding
The authors thank the families with Hallervorden-Spatz syndrome, without whom this study could not have been performed. A. Malone and S. Bae provided valuable technical assistance. This work was supported in part by NIH grants 1R01 EY12353 and 5K23 EY00348 to SJH.
| Funders | Funder number |
|---|---|
| Author National Institutes of Health National Institutes of Health National Institutes of Health National Institutes of Health The Bev Hartig Huntington's Disease Foundation National Institutes of Health | 5K23 EY00348 |
| National Eye Institute and Casey Eye Institute | R01EY012353 |
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health
- Neurology
- Developmental Neuroscience
- Clinical Neurology
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