Analysis of spinocerebellar ataxias due to expanded triplet repeats in Greek patients with cerebellar ataxia
| Autor: | Marios Panas, S E Pemble, Nicholas W. Wood, Georgios Koutsis, Henry Houlden, Athina Kladi, Mary G. Sweeney, Reema Paudel |
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| Rok vydání: | 2012 |
| Předmět: |
Adult
Male Pediatrics medicine.medical_specialty congenital hereditary and neonatal diseases and abnormalities Genotype Clinical Neurology Expanded triplet repeat disorders Pedigree chart Ethnic origin Audiology Cohort Studies SCA1 SCA2 Autosomal dominant cerebellar ataxia Molecular genetics SCA7 medicine Humans Spinocerebellar Ataxias Genetic Predisposition to Disease Pathological Cerebellar ataxia Greece business.industry Middle Aged SCA medicine.disease Phenotype Neurology Cohort Spinocerebellar ataxia Female Neurology (clinical) medicine.symptom business Trinucleotide Repeat Expansion |
| Zdroj: | Journal of the neurological sciences. 318(1-2) |
| ISSN: | 1878-5883 |
| Popis: | The relative frequency of different autosomal dominant cerebellar ataxias, commonly referred to as spinocerebellar ataxias (SCAs), varies considerably among populations of different ethnic origin. No data exist at present on the frequency of different SCAs in the Greek population. In the present study we investigated the presence of triplet repeat expansion SCAs (SCA1, SCA2, SCA3, SCA6, SCA7, SCA8, SCA12, SCA17 and DRPLA) in a cohort of 83 Greek patients with slowly progressive cerebellar ataxia. Twenty patients came from autosomal dominant (AD) pedigrees, seven displayed recessive or unclear inheritance and 56 were sporadic. We found four patients with pathological SCA expansions, all from AD pedigrees. Two patients had SCA1, one SCA2 and one SCA7 (10.0, 5.0 and 5.0% of the AD group, respectively). The clinical features of these patients were within the expected spectrum. In total, a pathological expansion was detected in 20% of patients from AD pedigrees. Interestingly, no cases of SCA3 or SCA6 were detected in the AD group. No expansions were found in other familial cases or in sporadic patients. Overall, no cases of SCA3, SCA6, SCA12, SCA17 or DRPLA were identified in the Greek population. In conclusion, SCA1, SCA2 and SCA7 are present in Greek patients with AD cerebellar ataxia in frequencies similar to those observed in other populations. SCA3 and SCA6 appear however to be rare in Greece. The genetic cause for the majority of AD ataxias remains to be identified. |
| Databáze: | OpenAIRE |
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