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

By A. Mubaidin, E. Roberts, D. Hampshire, M. Dheyyat, A. Shurbaji, M. Mubaidin, A. Jamil, A. Din, A. Kurdi and C.G. Woods


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

Year: 2003
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