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Pantothenate kinase 2 mutation with classic pantothenate-kinase-associated neurodegeneration without 'eye-of-the-tiger' sign on MRI in a pair of siblings.
- Source :
-
Pediatric radiology [Pediatr Radiol] 2006 Aug; Vol. 36 (8), pp. 884-6. Date of Electronic Publication: 2006 Jun 07. - Publication Year :
- 2006
-
Abstract
- It has been postulated that all patients with pantothenate kinase 2 (PANK2) mutations causing pantothenate-kinase-associated neurodegeneration (PKAN) are associated with the 'eye-of-the-tiger' sign on MRI. We report a pair of siblings who presented with dystonia and who have been found to be homozygous for 104C>A, S35X mutation, confirming the diagnosis of PKAN. They do not have the typical iron deposition in the globi pallida or substantia nigra on MR imaging.
Details
- Language :
- English
- ISSN :
- 0301-0449
- Volume :
- 36
- Issue :
- 8
- Database :
- MEDLINE
- Journal :
- Pediatric radiology
- Publication Type :
- Academic Journal
- Accession number :
- 16758184
- Full Text :
- https://doi.org/10.1007/s00247-006-0205-3