Prevalence of Inherited Ataxias in the Province of Padua, Italy
- 16 September 2004
- journal article
- Published by S. Karger AG in Neuroepidemiology
- Vol. 23 (6), 275-280
- https://doi.org/10.1159/000080092
Abstract
Few population studies are available on epidemiological indexes of hereditary ataxias. An investigation on the prevalence rate of these movement disorders is in progress for the Veneto region, the main area of northeast Italy with a population of 4,490,586 inhabitants. The first results of this epidemiological survey concern the province of Padua, which numbers 845,203 residents (January 1, 2002). The prevalence rate of inherited ataxias has been estimated at 93.3 cases per million inhabitants. The most common types appeared to be the autosomal dominant forms, namely spinocerebellar ataxia type 1 and 2, with a prevalence of 24 per 1,000,000. In the same population, with a prevalence rate of 6 per 1,000,000, Friedreich's ataxia was defined as the prominent recessive autosomal form. There were very rare cases of ataxia telangiectasia, ataxia with vitamin E deficiency and cerebellar ataxia with congenital muscular dystrophy, a recently identified autosomal recessive disease.Keywords
This publication has 44 references indexed in Scilit:
- Dissecting the epidemiology of a trinucleotide repeat disease – example of FRDA in FinlandHuman Genetics, 2001
- The complex clinical and genetic classification of inherited ataxias. II. Autosomal recessive ataxiasNeurological Sciences, 2001
- Spinocerebellar ataxias in Spanish patients: genetic analysis of familial and sporadic casesHuman Genetics, 1999
- The role of the SCA2 trinucleotide repeat expansion in 89 autosomal dominant cerebellar ataxia families. Frequency, clinical and genetic correlatesBrain, 1998
- Frequency analysis of autosomal dominant cerebellar ataxias in Japanese patients and clinical characterization of spinocerebellar ataxia type 6Clinical Genetics, 1998
- Genetic epidemiology of muscular dystrophies resulting from sarcoglycan gene mutations.Journal of Medical Genetics, 1997
- Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the α1A-voltage-dependent calcium channelNature Genetics, 1997
- Trinucleotide expansion within the MJD1 gene presents clinically as spinocerebellar ataxia and occurs most frequently in German SCA patientsHuman Molecular Genetics, 1995
- Hereditary ataxias and paraplegias in Valle ďAosta, Italy: a study of prevalence and disabilityActa Neurologica Scandinavica, 1995
- Friedreich's ataxia: a descriptive epidemiological study in an Italian populationClinical Genetics, 1990