Determinants of onset age in Friedreich's ataxia

Journal of Neurology

Volumn 245, Issue 3, 1998, Pages 166-168

  De Michele, Giuseppe ^a   Filla, Alessandro ^a   Criscuolo, Chiara ^a   Scarano, Valentina ^a   Cavalcanti, Francesca ^a   Pianese, Luigi ^a   Monticelli, Antonella ^a   Cocozza, Sergio ^a  

^a UNIVERSITY OF NAPLES FEDERICO II   (Italy)

Author keywords

Age at onset; Friedreich's ataxia; GAA expansion; Triplet diseases

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; ENVIRONMENTAL FACTOR; FEMALE; FRIEDREICH ATAXIA; GENE MUTATION; HEREDITY; HUMAN; MALE; MULTIPLE REGRESSION; ONSET AGE; PRIORITY JOURNAL;

ADOLESCENT; ADULT; AGE OF ONSET; ALLELES; CHILD; FEMALE; FRIEDREICH ATAXIA; HUMANS; ITALY; MALE; RISK FACTORS; TRINUCLEOTIDE REPEATS;

EID: 0031919186     PISSN: 03405354     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004150050198     Document Type: Article

References (14)

1. Campuzano V, Montermini L, Moltò MD, Pianese L, Cossée M, Cavalcanti F, Monros E, Rodius F, Duklos F, Monticelli A, Zara F, Canizares J, Koutnikova H, Bidichandani SI, Gellera C, Brice A, Trouillas P, De Michele G, Filla A, De Frutos R, Palau F, Patel PI, Di Donato S, Mandel JL, Cocozza S, Koenig M, Pandolfo M (1996) Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science 271:1423-1427
2. Chamberlain S, Show J, Rowland A, Wallis J, South S, Nakamura Y, Gabain A von, Farrall M, Williamson R (1988) Mapping of the mutation causing Friedreich's ataxia to human chromosome 9. Nature 334:248-250
3. De Michele G, Filla A, Barbieri F, Perretti A, Santoro L, Trombetta L, Santorelli F, Campanella G (1989) Late onset recessive ataxia with Friedreich's disease phenotype. J Neurol Neurosurg Psychiatry 52:1398-1401
4. De Michele G, Filla A, Cavalcanti F, Di Maio L, Pianese L, Castaldo I, Calabrese O, Monticelli A, Varrone S, Campanella G, Leone M, Pandolfo M, Cocozza S (1994) Late onset Friedreich's disease: clinical features and mapping of mutation to FRDA locus. J Neurol Neurosurg Psychiatry 57:977-979
5. De Michele G, Perrone F, Filla A, Mirante E, Giordano M, De Placido S, Campanella G (1996) Age of onset, sex, and cardiomyopathy as predictors of disability and survival in Friedreich's disease: a retrospective study on 119 patients. Neurology 47:1260-1264
6. Dürr A, Cossée M, Agyd Y, Campuzano V, Mignard C, Penet C, Mandel JL, Brice A, Koenig M (1996) Clinical and genetic abnormalities in patients with Friedreich's ataxia. New Engl J Med 335:1169-1175
7. Filla A, De Michele G, Cavalcanti F, Santorelli F, Santoro L, Campanella G (1991) Intrafamilial phenotype variation in Friedreich's disease: possible exceptions to diagnostic criteria. J Neurol 238:147-150
8. Filla A, De Michele G, Cavalcanti F, Pianese L, Monticelli A, Campanella G, Cocozza S (1996) The relationship between trinucleotide (GAA) repeat length and clinical features in Friedreich's ataxia. Am J Hum Genet 59:554-560
9. Filla A, De Michele G, Cocozza S (1997) Genetic abnormalities in Friedreich's ataxia. New Engl J Med 336:1021-1022
10. Geoffroy G, Barbeau A, Breton G, Lumieux B, Aube M, Leger C, Bouchard JB (1976) Clinical description and roentgenologic evaluation of patients with Friedreich's ataxia. Can J Neurol Sci 3:279-286
11. Harding AE (1981) 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
12. Montermini L, Richter A, Morgan K, Justice CM, Julien D, Castellotti B, Mercier J, Poirier J, Capozzoli F, Bouchard JP, Lemieux B, Mathieu J, Vanasse M, Seni MH, Graham G, Andermann F, Andermann E, Melançon SB, Keats BJB, Di Donato S, Pandolfo M (1997) Phenotypic variability in Friedreich's ataxia: role of the associated GAA triplet repeat expansion. Ann Neurol 41:675-682
13. Pianese L, Cavalcanti F, De Michele G, Filla A, Campanella G, Calabrese O, Castaldo I, Monticelli A, Cocozza S (1997) The effect of parental gender on the GAA dynamic mutation in the FRDA gene. Am J Hum Genet 60:460-463
14. Winter RM, Harding AE, Baraitser M, Bravery MB (1981) Intrafamilial correlation in Friedreich's ataxia. Clin Genet 20:419-427