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Titel:

The eye-of-the-tiger sign is not a reliable disease marker for Hallervorden-Spatz syndrome.

Dokumenttyp:
Case Reports; Journal Article; Article
Autor(en):
Baumeister, FA; Auer, DP; Hortnagel, K; Freisinger, P; Meitinger, T
Abstract:
Pantothenate kinase-associated neurodegeneration (PKAN), formerly Hallervorden-Spatz syndrome, is a rare autosomal recessive disorder characterized by extrapyramidal dysfunction as demonstrated by dystonia, rigidity, and choreoathetosis. Iron deposition in conjunction with destruction of the globus pallidus gives rise to the characteristic eye-of-the-tiger sign in MRI. It has been postulated that pantothenate kinase 2 mutations underlying all cases of classic Hallervorden-Spatz syndrome are alwa...     »
Zeitschriftentitel:
Neuropediatrics
Jahr:
2005
Band / Volume:
36
Heft / Issue:
3
Seitenangaben Beitrag:
221-2
Sprache:
eng
Volltext / DOI:
doi:10.1055/s-2005-865714
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/15944911
Print-ISSN:
0174-304X
TUM Einrichtung:
Institut für Humangenetik; Klinik und Poliklinik für Kinderheilkunde und Jugendmedizin
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