Karak syndrome: a novel degenerative disorder of the basal ganglia and cerebellum
| Autor: | Daniel J. Hampshire, A Shurbaji, Christopher Geoffrey Woods, Ammar F. Mubaidin, M Mubaidien, A Jamil, A Kurdi, Amir S. Najim Al-Din, Emma Roberts, M Dehyyat |
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| Rok vydání: | 2003 |
| Předmět: |
Male
Pediatrics medicine.medical_specialty Adolescent Cerebellar Ataxia Degenerative Disorder Choreiform movement DNA Mutational Analysis Neuroferritinopathy Pantothenate kinase-associated neurodegeneration Basal Ganglia Diseases Genetics Medicine Humans Abnormalities Multiple Child Basal ganglia disease Karak syndrome Genetics (clinical) Family Health Cerebellar ataxia business.industry DNA Syndrome PANK2 medicine.disease Pedigree Phosphotransferases (Alcohol Group Acceptor) Female medicine.symptom business Letter to JMG |
| Zdroj: | Journal of medical genetics. 40(7) |
| ISSN: | 1468-6244 |
| Popis: | 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 developed inverted feet (calcaneovarus), which was associated with frequent falls. Around the age of 9 years, both started to have choreiform movements of all four limbs, more marked in the upper limbs than in the lower limbs. By the age of 10 years the condition had progressed and they were unable to walk without assistance, and they left school soon after. Their mother found difficulty in feeding them because of swallowing problems after the age of 10 years and they were unable to dress, bathe, or feed themselves by their mid-teens. There were no visual or auditory symptoms or history of epilepsy. Both parents and four older sibs, two brothers and two sisters, were in good health. The parents were first cousins and came from an inbred family (fig 1). The family lived in Karak, a town in southern Jordan. Figure 1 A simplified pedigree of the research family. Affected … |
| Databáze: | OpenAIRE |
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