Distribución de ataxias hereditarias dominantes y ataxia de Friedreich en la población española

Cabrero, David Mayo; Cristóbal, J. Hernández; Duque, Susana Cantarero; Delgado, Beatriz Martínez; Azcorra, Miguel Urioste; Batanero, Mercedes Robledo; Espiga, Pedro García-Ruiz; Ortiz, Javier Benítez

doi:10.1016/s0025-7753(00)71484-9

Cited by 15 publications

(2 citation statements)

References 24 publications

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“…In this connection, other studies highlight differences in the most frequent forms of ataxias in Spain that could be attributable to the different origins of the samples analysed: SCA2 and SCA3 (north and centre) [24] versus SCA3 and SCA7 (centre and south) [23]. The concentration of some of the most frequent SCA in the north of the country might explain the geographical differences in HA mortality found in our study [1,23,24]. …”

Section: Discussionsupporting

confidence: 52%

“…Geographical differences have also been found within a single country, which, in the case of Finland, have been explained by internal migratory movements [20]. To date, most analyses of HA distribution in Spain have focussed on highlighting family clusters in a single region [6,7] or, alternatively, have referred to the existence of geographical variability without specifying the origin of the cases [23]. Our analyses on a provincial scale highlight the fact that there is little geographical variability in the risk of death due to HA in Spain, though in the case of males, there is a greater risk of mortality in the north and west of the country.…”

Section: Discussionmentioning

confidence: 99%

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Epidemiology of Hereditary Ataxias in Spain: Hospital Discharge Registry and Population-Based Mortality Study

et al. 2013

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Background: Hereditary ataxias (HA) comprise a group of genetically heterogeneous rare diseases. As important public health problems to be monitored, this study analyses the morbimortality of HA in Spain. Methods: Data were extracted from the national death index (1981-2008), using the International Classification of Diseases (ICD) 9th revision code 334 until 1998, and 10th revision code G11 from 1999 onwards. ICD-9 codes were then selected from the national discharge dataset (1998-2007). Age-adjusted morbidity and mortality rates were obtained by gender and 5-year period. Results: Of the 610 HA deaths from 1981 to 2008, 277 corresponded to Friedreich's ataxia (45.4%) and 333 (54.6%) to other and unspecified ataxias (non-Friedreich group). Both groups showed an increase in mortality trend, which was more pronounced in males from 1985-1989 to 1990-1994. Geographical distribution of mortality revealed higher risk for males, mainly in the north of Spain. A total of 5,341 HA hospitalisations were identified from 1998 to 2007. The average annual age-adjusted hospitalisation rate was 1.19 per 100,000 population, with a rising trend. Conclusion: This increase in morbidity and mortality, coupled with the slight interprovincial differences, indicate that more attention should be paid to these rare diseases by public authorities and society alike.

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Section: Discussionsupporting

confidence: 52%

Section: Discussionmentioning

confidence: 99%

Epidemiology of Hereditary Ataxias in Spain: Hospital Discharge Registry and Population-Based Mortality Study

et al. 2013

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Prevalence of Dentatorubral-Pallidoluysian Atrophy in a Large Series of White Patients With Cerebellar Ataxia

Ber

Camuzat²,

Castelnovo³

et al. 2003

Arch Neurol

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This study enables us to estimate the frequency of the disease as 0.25% in both families with autosomal dominant cerebellar ataxia and sporadic cases of ataxia in our series, confirming the very low frequency of DRPLA in Europe. In both familial and sporadic cases, molecular testing for DRPLA could be restricted to patients with ataxia with one of the following features: chorea, dementia, or myoclonic epilepsy.

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Distinct distribution of autosomal dominant spinocerebellar ataxia in the Mexican population

et al. 2007

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Dominant ataxias show wide geographic variation. We analyzed 108 dominant families and 123 sporadic ataxia patients from Mexico for mutations causing SCA1-3, 6-8, 10, 12, 17 and DRPLA. Only 18.5% of dominant families remained undiagnosed; SCA2 accounted for half (45.4%), followed by SCA10 (13.9%), SCA3 (12%), SCA7 (7.4%), and SCA17 (2.8%). None had SCA1, 6, 8, 12 or DRPLA. Among sporadic cases, 6 had SCA2 (4.9%), and 2 had SCA17 (1.6%). In the SCA2 patients we identified 6 individuals with the rare (CAG)(33) allele, 2 of whom showed early onset ataxia. The distribution of dominant ataxia mutations in Mexicans is distinct from other populations.

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Distribución de ataxias hereditarias dominantes y ataxia de Friedreich en la población española

Cited by 15 publications

References 24 publications

Epidemiology of Hereditary Ataxias in Spain: Hospital Discharge Registry and Population-Based Mortality Study

Epidemiology of Hereditary Ataxias in Spain: Hospital Discharge Registry and Population-Based Mortality Study

Prevalence of Dentatorubral-Pallidoluysian Atrophy in a Large Series of White Patients With Cerebellar Ataxia

Distinct distribution of autosomal dominant spinocerebellar ataxia in the Mexican population

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