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

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

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Journal article

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

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

07/2003

Abstract

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

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Title: Karak syndrome: a novel degenerative disorder of the basal ganglia and cerebellum
Creators - without role: A Mubaidin
E Roberts
D Hampshire
M Dheyyat
A Shurbaji
M Mubaidin
A Jamil
A Din
A Kurdi
C.G Woods
Identifiers: 9931104008331
Academic Unit: Umm Al Qura University
Language: English
Resource Type: Journal article