Friedreich's ataxia: a descriptive epidemiological study in an Italian population
Corresponding Author
Maurizio Leone
Clinica Neurologica II, University of Torino, Italy
U.O. di Neurologia Ospedale Regionale V.le Ginevra 3 11100-Aosta ItalySearch for more papers by this authorFrancesco Brignolio
Clinica Neurologica II, University of Torino, Italy
Search for more papers by this authorMaria Gabriella Rosso
Clinica Neurologica II, University of Torino, Italy
Search for more papers by this authorEmilio Sergio Curtoni
Istituto di Genetica Medica, University of Torino, Italy
Search for more papers by this authorAntonio Moroni
Istituto di Ecologia, University of Parma, Italy
Search for more papers by this authorAntonella Tribolo
Clinica Neurologica II, University of Torino, Italy
Search for more papers by this authorDavide Schiffer
Clinica Neurologica II, University of Torino, Italy
Search for more papers by this authorCorresponding Author
Maurizio Leone
Clinica Neurologica II, University of Torino, Italy
U.O. di Neurologia Ospedale Regionale V.le Ginevra 3 11100-Aosta ItalySearch for more papers by this authorFrancesco Brignolio
Clinica Neurologica II, University of Torino, Italy
Search for more papers by this authorMaria Gabriella Rosso
Clinica Neurologica II, University of Torino, Italy
Search for more papers by this authorEmilio Sergio Curtoni
Istituto di Genetica Medica, University of Torino, Italy
Search for more papers by this authorAntonio Moroni
Istituto di Ecologia, University of Parma, Italy
Search for more papers by this authorAntonella Tribolo
Clinica Neurologica II, University of Torino, Italy
Search for more papers by this authorDavide Schiffer
Clinica Neurologica II, University of Torino, Italy
Search for more papers by this authorAbstract
All the cases of Friedreich's ataxia (FA) diagnosed between 1945 through 1984 among residents of a defined area of northwestern Italy were ascertained (N = 59). Cases were diagnosed according to the criteria of the “Quebec Cooperative Study on Friedreich's Ataxia (QCSFA)” with minor modifications. We identified 39 families with 47 probands and 12 secondary cases. Therefore ascertainment probability was 80%. Male to female ratio was 1:1. Pedigrees were compatible with autosomal recessive inheritance. Segregation ratio was 0.28 with both Weinberg's method and the “singles” method (under incomplete ascertainment). Point prevalence ratio was 1.2/100 000 population. Birth incidence rate was 1/36 000 live births. Gene frequency was estimated to be 1/191. The ratio of first-cousin marriages observed among parents of FA patients (3%) was lower than expected from Dahlberg's formula (8%). This finding is not compatible with the hypothesis of genetic heterogeneity for FA.
References
- Ben Hamida, M., H. Chaabouni, S. Madani, S. Boussen, S. Samoud, F. Letaief, A. Mrabet, F. Hentati & N. Miladi (1986). Etude génétique des hérédo-dégénérescences spino-cérébelleuses en Tunisie. Le rôle de la consanguinité dans leur survenue. J. Génét. Hum. 34, 267–274.
- Brignolio, F., M. Leone, A. Tribolo, M. G. Rosso, P. Meineri & D. Schiffer (1986). Prevalence of hereditary ataxias and paraplegias in the province of Torino, Italy. Ital. J. Neurol. Sci. 7, 431–435.
- Campanella, G., A. Filla, F. DeFalco, D. Mansi, A. Durivage & A. Barbeau (1980). Friedreich's ataxia in the South of Italy: a clinical and biochemical survey of 23 patients. Can. J. Neurol. Sci. 7, 339–344.
- Chamberlain, S., J. Shaw, A. Rowland, J. Wallis, S. South, Y. Nakamura, A. von Gabain, M. Farral & R. Williamson (1988). Mapping of mutation causing Friedreich's ataxia to human chromosome 9. Nature 334, 248–250.
- Chamberlain, S., J. Shaw, J. Wallis, A. Rowland, L. Chow, M. Farral, B. Keats, A. Richter, M. Roy, S. Melancon, T. Deufel, J. Berciano & R. Williamson (1989). Genetic homogeneity at the Friedreich ataxia locus on chromosome 9. Am. J. Hum. Genet. 44, 518–521.
- Chen, K., J. A. Brody & L. T. Kurland (1968). Patterns of neurologic diseases on Guam: I. Epidemiologic aspects. Arch. Neurol. 19, 573–578.
- Chio', A., A. Tribolo, F. Brignolio, M. Leone, P. Meineri, M. G. Rosso, M. Mostert & D. Schiffer (1987) Hereditary and sporadic motor and sensory neuropathies: a genetic and epidemiological study in the province of Turin, Italy. Ital. J. Neurol. Sci. 8, 369–374.
- Dahlberg, G. (1947). Mathematical Methods for Population Genetics. Basel , Karger.
- Davie, A. M. (1979). The “singles” method for segregation analysis under incomplete ascertainment. Ann. Hum. Genet. (Lond.) 42, 507–512.
- Emery, A. E. H. (1976). Methodology in Medical Genetics: an Introduction to Statistical Methods. Edinburgh , Churchill Livingstone.
- Filla, A. & G. Campanella (1981). Studio epidemiologico delle eredoatassie spino-cerebellari in Campania. Atti del II Convegno Nazionale di Neuroepidemiologia, R. Boeri & G. Filippini (eds.). Milano , Officine grafiche Sabaini, pp. 81–82.
- Geoffroy, G., A. Barbeau, G. Breton, B. Lemieux, M. Aube, C. Leger & J. B. Bouchard (1976). Clinical description and roentgenologic evaluation of patients with Friedreich's ataxia. Can. J. Neurol. Sci. 3, 279–286.
- Gudmundsson, K. R. (1969). Prevalence and occurrence of some rare neurological diseases in Iceland. Acta Neurol. Scand. 45, 114–118.
- Harding, A. E. (1981a). Friedreich's ataxia: a clinical and genetic study of 90 families with an analysis of early diagnostic criteria and intrafamilial clustering of clinical features. Brain 104, 589–620.
- Harding, A. E. (1981b). Early onset cerebellar ataxia with retained tendon reflexes: a clinical and genetic study of a disorder distinct from Friedreich's ataxia. J. Neurol. Neurosurg. Psychiatry 44, 503–508.
- Harding, A. E. (1984). The Hereditary Ataxias and Related Disorders. Edinburgh , London , Churchill Livingstone.
- ISTAT. Istituto Centrale di Statistica (19561979). Annuario di Statistiche Demografiche. Firenze , Tipografia Paoletti.
- ISTAT. Istuto Centrale di Statistica (1983). Compendio Statistico Italiano. Firenze , Tipografia Paoletti.
- Kurland, L. T. (1958). Descriptive epidemiology of selected neurologic and myopathic disorders with particular reference to a survey in Rochester, Minnesota. J. Chron. Dis. 8, 378–418.
- Leone, M., W. A. Rocca, M. G. Rosso, N. Mantel, B. S. Schoenberg & D. Schiffer (1988). Friedreich's disease: survival analysis in an Italian population. Neurology 38, 1433–1438.
- Lucci, B., L. Motti, D. Guidotti & R. Zucco (1982). Indagine epidemiologica descrittiva delle eredoatassie nella provincia di Reggio-Emilia. Atti del III Convegno Nazionale di Neuroepidemiologia, G. Filippini and R. Boeri (eds.), Padova , Litografia la photograph, pp. 169–174.
- Moroni, A. (1964). Evoluzione della frequenza dei matrimoni consanguinei in Italia negli ultimi cinquant'anni. Atti AGI 9, 220.
- Morton, N. E. (1982). Outline of Genetic Epidemiology. Basel , Karger.
- Polo, J. W. Calleja, O. Combarrios & J. Berciano (1988). Prevalence of familial spinocerebellar syndromes (hereditary ataxias and spastic paraplegias) in Cantabria, Spain. J. Neurol. 235, (suppl.) S90.
- Romeo, G., P. Menozzi, A. Ferlini, S. Fadda, S. Di Donato, G. Uziel, B. Lucci, L. Capodaglio, A. Filla & G. Campanella (1983). Incidence of Friedreich's ataxia in Italy estimated from consanguineous marriages. Am. J. Hum. Genet. 35, 523–529.
-
Schoenberg, B. S. (1983). Calculating confidence intervals for rates and ratios: simplified method utilizing tabular values based on the Poisson distribution.
Neuroepidemiology
2, 257–265.
10.1159/000110529 Google Scholar
- Sjogren, T. (1943). Klinische und Erbbiologische Untersuchungen über die Heredoataxien. Acta Psychiatr. Neurol. 27, suppl. 1–200.
- Skre, H. (1974). Hereditary spastic paraplegia in Western Norway. Clin. Genet. 6, 165–183.
- Skre, H. (1975). Friedreich's ataxia in Western Norway. Clin. Genet. 7, 287–298.
- Skre, H. (1980). Epidemiology of spinocerebellar degenerations in Western Norway: hereditary ataxias. Spinocerebellar Degenerations, I. Sobue (ed.). Tokyo , University of Tokyo Press, pp. 103–120.
- Sridharan, R., K. Radhakrishnan, P. P. Ashok & M. E. Mousa (1985). Prevalence and pattern of spinocerebellar degeneration in northeastern Libya. Brain 108, 831–847.
- Trizio, M., L. Serlenga, L. Margari & G. Pozio (1981). Le atassie spino-cerebellari in Puglia. Atti del II Convegno Nazionale di Neuroepidemiologia, R. Boeri & G. Filippini, (eds.). Milano , Officine grafiche Sabaini, pp. 83–85.
- Tyrer, J. H., Friedreich's ataxia (1975). Handbook of Clinical Neurology, Vol. 29, P. J. Vinken & G. W. Bruyn, (eds.). Amsterdam , North Holland Publishing Company, pp. 319–364.
- Werdelin, L. (1986). Hereditary ataxias. Occurrence and clinical features. Acta Neurol. Scand. 73 (suppl. 106), 59–67.
- Winter, R. M., A. E. Harding, M. Baraitser & M. B. Bravery (1981). Intrafamilial correlation in Friedreich's ataxia. Clin. Genet. 20, 419–427.
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