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Karak syndrome: a novel degenerative disorder of the basal ganglia and cerebellum

Mubaidin, A., Roberts, E., Hampshire, D., Dheyyat, M., Shurbaji, A., Mubaidin, M., Jamil, A., Din, A., Kurdi, A. and Woods, C.G. (2003) Karak syndrome: a novel degenerative disorder of the basal ganglia and cerebellum. Journal of Medical Genetics, 40 (7). pp. 543-546. ISSN 0022-2593

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Two brothers are reported with early onset progressive cerebellar ataxia, dystonia, spasticity, and intellectual decline. • Neuroradiology showed cerebellar atrophy and features compatible with iron deposition in the putamen (including the “eye of the tiger sign”) and substantia nigra. • Diagnosis was compatible with pantothenate kinase associated neuropathy resulting from pantothenate kinase 2 mutation (PKAN due to PANK2) but linkage to PNAK2 was eliminated suggesting Karak syndrome to be a novel disorder. • The “eye of the tiger” sign has previously only been reported to occur in PKAN due to PKAN2

Item Type: Article
Copyright, Publisher and Additional Information: Copyright © 2003 BMJ Publishing Group
Institution: The University of Leeds
Academic Units: The University of Leeds > Faculty of Medicine and Health (Leeds) > Institute of Molecular Medicine (LIMM) (Leeds) > Section of Genetics (Leeds)
Depositing User: Sherpa Assistant
Date Deposited: 13 Mar 2006
Last Modified: 04 Jun 2014 13:32
Published Version: http://jmg.bmjjournals.com/cgi/content/full/40/7/5...
Status: Published
Refereed: Yes
Identification Number: 10.1136/jmg.40.7.543
URI: http://eprints.whiterose.ac.uk/id/eprint/248

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