LETTER TO JMG

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

A Mubaidin¹, E Roberts², D Hampshire², M Dehyyat¹, A Shurbaji¹, M Mubaidien³, A Jamil⁴, A Al-Din⁵, A Kurdi¹, C G Woods^2,6

¹ Neurology Department, King Hussein Medical Centre, PO Box 926442, Amman, Jordan 2
² Molecular Medicine Unit, University of Leeds, Clinical Sciences Building, St James’s University Hospital, Beckett Street, Leeds, UK
³ Ophthalmology Department, King Hussein Medical Centre, Amman, Jordan
⁴ Radiology Department, King Hussein Medical Centre, Amman, Jordan
⁵ Department of Neurology, Pinderfields Hospital, Wakefield, UK
⁶ Clinical Genetics Department, St James’s University Hospital, Beckett Street, Leeds, UK

Correspondence to:
Correspondence to:
Dr C G Woods, Molecular Medicine Unit, University of Leeds, Clinical Sciences Building, St James’s University Hospital, Beckett Street, Leeds LS9 7TF, UK;
msjcgw@leeds.ac.uk

Keywords: Karak syndrome; basal ganglia; cerebellum; iron accumulation

The first 150 words of the full text of this article appear below.

We report a Jordanian Arab family where two sibs developed the classical clinical and radiological features of pantothenate kinase associated neurodegeneration (PKAN, formerly known as Hallervorden-Spatz disease) but in addition had an early onset cerebellar ataxia.^1,2 Using polymorphic microsatellite markers we have shown that this family is not linked to the pantothenate kinase gene (PANK2) on chromosome 20.² We hypothesise that the disorder, Karak syndrome, is novel and a member of the growing family of neurological diseases involving excess cerebral iron accumulation, for example, PKAN, neuroferritinopathy, aceruloplasminaemia, and Friedreich’s ataxia.^2–6

Both affected members (fig 1, IV.1 and IV.2) were the product of a normal pregnancy and birth and had normal developmental milestones and progress at school until disease onset at the age of 6 years. They developed an ataxic gait that was slowly progressive, and was associated with decreased school performance. At 8 years of age they . . . [Full text of this article]

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