Clinical and genetic analysis of spinocerebellar ataxia in Mali

Traoré, M.; Coulibaly, T; Meilleur, K.; Pean, Alison La; Sangaré, Modibo; Landouré, Guida; Mochel, Fanny; Karambé, Mamadou; Guinto, Cheick Oumar; Fischbeck, Kenneth H.

doi:10.1111/j.1468-1331.2011.03376.x

Cited by 14 publications

(8 citation statements)

References 9 publications

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“…Reports on SCA7 in the African continent are scarce, although there are isolated reports from Algeria, Angola, Cape Verde, Liberia, Mali, Morocco, South Africa and Tunisia [ 9 , 13 , 18 , 26 , 33 , 34 ]. SA has one of the highest frequencies of SCA7 in the world.…”

Section: Discussionmentioning

confidence: 99%

Clinical and genetic analysis of spinocerebellar ataxia type 7 (SCA7) in Zambian families

et al. 2017

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BackgroundTo date, 43 types of Spinocerebellar Ataxias (SCAs) have been identified. A subset of the SCAs are caused by the pathogenic expansion of a CAG repeat tract within the corresponding gene. Ethnic and geographic differences are evident in the prevalence of the autosomal dominant SCAs. Few descriptions of the clinical phenotype and molecular genetics of the SCAs are available from the African continent. Established studies mostly concern the South African populations, where there is a high frequency of SCA1, SCA2 and SCA7. The SCA7 mutation in South Africa (SA) has been found almost exclusively in families of indigenous Black African ethnic origin.ObjectiveTo present the results of the first clinical description of seven Zambian families presenting with autosomal dominant SCA, as well as the downstream molecular genetic analysis of a subset of these families.MethodsThe study was undertaken at the University Teaching Hospital in Lusaka, Zambia. Ataxia was quantified with the Brief Ataxia Rating Scale derived from the modified international ataxia rating scale. Molecular genetic testing for 5 types of SCA (SCA1, SCA2, SCA3, SCA6 and SCA7) was performed at the National Health Laboratory Service at Groote Schuur Hospital and the Division of Human Genetics, University of Cape Town, SA. The clinical and radiological features were evaluated in seven families with autosomal dominant cerebellar ataxia. Molecular genetic analysis was completed on individuals representing three of the seven families.ResultsAll affected families were ethnic Zambians from various tribes, originating from three different regions of the country (Eastern, Western and Central province). Thirty-four individuals from four families had phenotypic features of SCA7. SCA7 was confirmed by molecular testing in 10 individuals from 3 of these families. The age of onset of the disease varied from 12 to 59 years. The most prominent phenotypic features in these families were gait and limb ataxia, dysarthria, visual loss, ptosis, ophthalmoparesis/ophthalmoplegia, pyramidal tract signs, and dementia. Affected members of the SCA7 families had progressive macular degeneration and cerebellar atrophy. All families displayed marked anticipation of age at onset and rate of symptom progression. The pathogenic SCA7 CAG repeat ranges varied from 47 to 56 repeats. Three additional families were found to have clinical phenotypes associated with autosomal dominant SCA, however, DNA was not available for molecular confirmation. The age of onset of the disease in these families varied from 19 to 53 years. The most common clinical picture in these families included a combination of cerebellar symptoms with slow saccadic eye movements, peripheral neuropathy, dementia and tremor.ConclusionSCA is prevalent in ethnic Zambian families. The SCA7 families in this report had similar clinical presentations to families described in other African countries. In all families, the disease had an autosomal dominant pattern of inheritance across multiple generations. All families disp...

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Section: Discussionmentioning

confidence: 99%

Clinical and genetic analysis of spinocerebellar ataxia type 7 (SCA7) in Zambian families

et al. 2017

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“…Information regarding the occurrence of the polyglutamine SCAs in African countries is limited to reports from countries such as Mali. 16 The size of the pathogenic CAG repeat in the polyglutamine SCAs is inversely correlated with the age of onset of symptoms and the rate of disease progression. 8 Individuals with larger repeat lengths tend to develop symptoms at an earlier age, and progress at a faster rate than patients with smaller repeats.…”

Section: Discussionmentioning

confidence: 99%

Inherited polyglutamine spinocerebellar ataxias in South Africa

et al. 2012

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“…This is the first case of SCA2 ever reported from The Gambia. Molecularly confirmed SCA2 cases have been also reported for Rwanda [1], Egypt [2], Mali [3], and South Africa [4,5], for a total of about 61 cases, suggesting very low SCA2 prevalence in African countries. The estimated prevalence for SCA2 in The Gambia is about 2.32/1,000,000 inhabitants.…”

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confidence: 77%