Late onset Friedreich's disease: Clinical features and mapping of mutation to the FRDA locus

Journal of Neurology, Neurosurgery and Psychiatry

Volumn 57, Issue 8, 1994, Pages 977-979

  De Michele, G ^a,b   Filla, A ^a,b   Cavalcanti, F ^a,b   Di Maio, L ^a,b   Pianese, L ^b   Castaldo, I ^b   Calabrese, O ^b   Monticelli, A ^b   Varrone, S ^b   Campanella, G ^a,b   Leone, M ^c   Pandolfo, M ^d   Cocozza, S ^b  

^a UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^b Department of Neurology ^*  (Italy)

^c MAGGIORE DELLA CARITÀ HOSPITAL   (Italy)

^d DEPARTMENT OF NEUROSURGERY   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; CHROMOSOME 9; CLINICAL ARTICLE; CLINICAL FEATURE; COMPARATIVE STUDY; CONTROLLED STUDY; DIFFERENTIAL DIAGNOSIS; DISEASE COURSE; DISEASE DURATION; DISEASE SEVERITY; FEMALE; FRIEDREICH ATAXIA; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENETIC LINKAGE; GENETIC RECOMBINATION; HUMAN; MALE; NERVE BIOPSY; NEUROPHYSIOLOGY; NEURORADIOLOGY; ONSET AGE; PHENOTYPE; PRIORITY JOURNAL; SKELETON MALFORMATION; SURAL NERVE;

ADULT; AGE FACTORS; BIOPSY; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 9; COMPARATIVE STUDY; DIAGNOSIS, DIFFERENTIAL; FEMALE; FRIEDREICH ATAXIA; HUMAN; LOD SCORE; MALE; MUTATION; NERVE TISSUE PROTEINS; NEURAL CONDUCTION; PHENOTYPE; POLYMORPHISM (GENETICS); RECOMBINATION, GENETIC; SEVERITY OF ILLNESS INDEX; SUPPORT, NON-U.S. GOV'T; SURAL NERVE; TIME FACTORS;

EID: 0028120296     PISSN: 00223050     EISSN: None     Source Type: Journal    
DOI: 10.1136/jnnp.57.8.977     Document Type: Article

References (17)

1. Harding, A.E. 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 1981 10.1093/brain/104.3.589 104 589
2. Friedreich, N. Uber Ataxie mit besonderer Berucksichtigung der hereditaren Formen Virchows Arch Pathol Anat Histol 1876 10.1007/BF01879049 68 145
3. Potts, W.J. A case with Friedreich's disease with onset late in life Brain 1906 405 29
4. Geoffroy, G.; Barbeau, A.; Breton, A. Clinical description and roentgenologic evaluation of patients with Friedreich's ataxia Can J Neurol Sci 1976 10.1017/S0317167100025464 3 279
5. G, De Michele; A, Filla; F, Barbieri Late onset recessive ataxia with Friedreich's disease phenotype Jf Neurol Neurosurg Psychiatry 1989 10.1136/jnnp.52.12.1398 52 1398
6. Chamberlain, S.; Shaw, J.; Rowland, A. Mapping of mutation causing Friedreich's ataxia to human chromosome 9 Nature 1988 10.1038/334248a0 334 248
7. Chamberlain, S.; Shaw, J.; Wallis, J. Genetic homogeneity at the Friedreich's ataxia locus on chromosome 9 AmJHum Genet 1989 44 518
8. Klockgether, T.; Chamberlain, S.; Wullner, U. Late onset Friedreich's ataxia. Molecular genetics, clinical neurophysiology and magnetic resonance imaging Arch Neurol 1993 10.1001/archneur.1993.00540080014006 50 803
9. Sirugo, G.; Keats, B.; Fujita, R. Friedreich ataxia in Lousiana Acadians: demonstration of a founder effect by analysis of microsatellite-generated expanded haplotypes Am JfHum Genet 1992 50 559
10. Fujita, R.; Hanauer, A.; Sirugo, G.; Heilig, R.; Mandel, J.L. Additional polymorphisms at marker loci D9S5 and D9S1 5 generate extended haplotypes in linkage disequilibrium with Friedreich ataxia. Proc Nad Acad Sci 1990 87 1796
11. Wallis, J.; Williamson, R.; Chamberlain, S. Identification of a hypervariable microsatellite polymorphism within D9S15 tightly linked to the Friedreich's ataxia locus Hum Genet 1990 85 98
12. Pandolfo, M.; Munaro, M.; Cocozza, S. A dinucleotide repeat polymorphism (MLS 1-D9S202) in the Friedreich's ataxia region of chromosome 9q13-q21-1 Hum Mol Genet 1993 10.1093/hmg/2.6.822 2 822
13. Maniatis, T.; Fritsch, E.F.; Sambrook, J. Molecular cloning. A laboratory manual Cold Spring Harbor: Cold Spring Harbor Laboratory 1982
14. Lathrop, G.M.; Lalouel, J.M.; Julier, C.; Ott, J. Multilocus linkage analysis in humans: detection of linkage and estimation of recombination Am J Hum Genet 1985 37 482
15. Filla, A.; De Michele, G.; Caruso, G.; Marconi, R.; Campanella, G. Genetic data and natural history of Friedreich's disease: a study of 80 Italian patients J Neurol 1990 10.1007/BF00315657 237 345
16. Caruso, G.; Santoro, L.; Perretti, A. Friedreich's ataxia: electrophysiologic and histologic findings in patients and relatives Muscle Nerve 1987 10.1002/mus.880100604 10 503
17. Filla, A.; De Michele, G.; Cavalcanti, F.; Santorelli, F.; Santoro, L.; Campanella, G. Intrafamilial phenotype variation in Friedreich's disease: possible exceptions to diagnostic criteria J Neurol 1991 10.1007/BF00319681 238 147