Linkage to chromosome 13q11-12 of an autosomal recessive cerebellar ataxia in a Tunisian family
| Autor: | N. Mrissa, Samir Belal, Rim Amouri, M. Ben Hamida, R. Mrissa, Fayçel Hentati, C. Ben Hamida, I. Turki |
|---|---|
| Rok vydání: | 2000 |
| Předmět: |
Adult
Genetic Markers Male Cerebellum Tunisia Ataxia Adolescent Genetic Linkage Biopsy Neural Conduction Genes Recessive Locus (genetics) Biology Genetic linkage Evoked Potentials Somatosensory medicine Humans Age of Onset Muscle Skeletal Spinocerebellar Degenerations Genetics Chromosomes Human Pair 13 Cerebellar ataxia Genetic heterogeneity business.industry General Neuroscience Peroneal Nerve Autosomal recessive cerebellar ataxia Middle Aged medicine.disease Pedigree medicine.anatomical_structure Peripheral neuropathy Microsatellite Female Neurology (clinical) Lod Score medicine.symptom business Neuroscience Magnetic Resonance Angiography |
| Zdroj: | Neurology. 54:1408-1414 |
| ISSN: | 1526-632X 0028-3878 |
| DOI: | 10.1212/wnl.54.7.1408 |
| Popis: | Objective: To report the clinical findings and the genetic linkage mapping of an autosomal recessive cerebellar ataxia associated to peripheral neuropathy, showing an early onset cerebellar ataxia with retained tendon reflexes (EOCA) phenotype. Background: EOCA is a clinical syndrome delimited by Harding distinguished from Friedreich’s ataxia (FA) mainly by the preservation of tendon reflexes. Molecular genetic study of patients with EOCA has demonstrated genetic heterogeneity. A form of autosomal recessive spastic ataxia has been described in Charlevoix Saguenay area in Quebec (ARSACS); the gene responsible has been mapped to chromosome 13q. Methods: Genetic linkage analysis was performed on 18 members of a large family including 8 of 9 members with EOCA. After exclusion of FA and ataxia with vitamin E deficiency loci as well as loci of autosomal dominant cerebellar ataxias, we performed a linkage analysis to markers of 13q11-12 region. Results: The 9 affected members of this family showed stereotyped clinical features with cerebellar ataxia, pyramidal syndrome, and a variable degree of axonal peripheral neuropathy. Linkage was detected between the disease locus and the microsatellite marker D13S232. Surrounding markers to D13S232 confirmed the linkage and showed the homozygosity of the affected members. Conclusion: The family reported here showed the same locus as autosomal recessive spastic ataxia Charlevoix Saguenay disease. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|