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Dokumenttyp:
journal article 
Autor(en):
Hartig, MB; Prokisch, H; Meitinger, T; Klopstock, T 
Titel:
Pantothenate kinase-associated neurodegeneration. 
Abstract:
Pantothenate kinase-associated neurodegeneration (PKAN) is a hereditary progressive disorder and the most frequent form of neurodegeneration with brain iron accumulation (NBIA). PKAN patients present with a progressive movement disorder, dysarthria, cognitive impairment and retinitis pigmentosa. In magnetic resonance imaging, PKAN patients exhibit the pathognonomic "eye of the tiger" sign in the globus pallidus which corresponds to iron accumulation and gliosis as shown in neuropathological exam...    »
 
Zeitschriftentitel:
Curr Drug Targets 
Jahr:
2012 
Band / Volume:
13 
Heft / Issue:
Seitenangaben Beitrag:
1182-9 
Sprache:
eng 
Print-ISSN:
1389-4501 
TUM Einrichtung:
r Humangenetik