A mild case of friedreich ataxia: Lymphocyte and sural nerve analysis for GAA repeat length reveals somatic mosaicism

Muscle and Nerve

Volumn 21, Issue 3, 1998, Pages 390-393

  Machkhas, Hazem ^a   Bidichandani, Sanjay I ^a   Patel, Pragna I ^a   Harati, Yadollah ^a,b  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b NONE   (United States)

Author keywords

Friedreich ataxia; GAA triplet repeat; Mild case; Somatic mosaicism; Sural nerve

Indexed keywords

ADULT; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CARBOHYDRATE INTOLERANCE; CASE REPORT; CHROMOSOME 9; FEMALE; FRIEDREICH ATAXIA; HUMAN; INTRON; LYMPHOCYTE FUNCTION; MOSAICISM; NERVE BIOPSY; PHENOTYPE; PRIORITY JOURNAL; SURAL NERVE; TANDEM REPEAT;

ADULT; BIOPSY; CHROMOSOMES, HUMAN, PAIR 17; ELECTROPHYSIOLOGY; FEMALE; FRIEDREICH ATAXIA; HETEROZYGOTE DETECTION; HOMOZYGOTE; HUMANS; INTRONS; IRON-BINDING PROTEINS; LYMPHOCYTES; MALE; MOSAICISM; MULTIPLE SCLEROSIS; NERVE FIBERS, MYELINATED; PEDIGREE; PERIPHERAL NERVES; PHOSPHOTRANSFERASES (ALCOHOL GROUP ACCEPTOR); POLYMERASE CHAIN REACTION; SURAL NERVE; TRINUCLEOTIDE REPEATS;

EID: 0031905780     PISSN: 0148639X     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1097-4598(199803)21:3<390::AID-MUS13>3.0.CO;2-3     Document Type: Article

References (12)

1. Babcock M, De Silva D, Oaks R, Davis-Kaplan S, Jiralerspong S, Montermini L, Pandolfo M, Kaplan J: Regulation of mitochondrial iron accumulation by Yfh1p, a putative homolog of frataxin. Science 1997;276:1709-1712.
2. Barbeau A, Roy M, Sadibelouiz M, Wilensky MA: Recessive ataxia in Acadians and "Cajuns." Can J Neurol Sci 1984;11:526-533.
3. Bidichandani SI, Ashizawa T, Patel PI: Atypical Friedreich ataxia caused by compound heterozygosity for a novel missense mutation and the GAA triplet repeat expansion. Am J Hum Genet 1997;60:1251-1256.
4. Bidichandani SI, Patel PI: The impact of advances in molecular genetics on inherited disorders of the nervous system, in Appel SH (ed): Current Neurology. St. Louis, Mosby, 1996, vol 16, pp 1-63.
5. Campuzano V, Montermini L, Moltò MD, Pianese L, Cossèe M, Cavalcanti F, Monros E, Rodius F, Duclos F, Monticelli A, Zara F, Cañizares J, Koutnikova H, Bidichandani SI, Gallera C, Brice A, Trouillas P, De Michelle G, Filla A, De Frutos R, Palau F, Patel PI, Di Donato S, Mandel J-L, Cocozza S, Koenig M, Pandolfo M: Friedreich's ataxia - autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science 1996;271:1423-1427.
6. Cossee M, Campuzano V, Koutnikova H, Fischbeck K, Mandel J-L, Koenig M, Bidichandani SI, Patel PI, Moltò MD, Cañizares J, De Frutos R, Pianese L, Cavalcanti F, Monticelli A, Cocozza S, Montermini L, Pandolfo M: Frataxin fracas. Nat Genet 1997;15:337-338.
7. 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: Late onset Friedreich's disease: clinical features and mapping of mutation to the FRDA locus. J Neurol Neurosurg Psychiatry 1994;57:977-979.
8. Dürr A, Cossèe M, Agid V, Campuzano V, Mignard C, Penet C, Mandel J-L, Brice A, Koenig M: Clinical and genetic abnormalities in patients with Friedreich's ataxia. N Engl J Med 1996;335:1169-1175.
9. Filla A, De Michele G, Cavalcanti F, Pianese L, Monticelli A, Campanella G, Cocozza S: The relationship between trinucleotide (GAA) repeat length and clinical features in Friedreich ataxia. Am J Hum Genet 1996;59:554-560.
10. Harding AE: 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;104:589-620.
11. Lopes-Cendes I, Maciel P, Kish S, Caspar C, Robitaille Y, Clark HB, Koeppen AH, Nance M, Schut L, Silveira I, Coutinho P, Sequeiros J, Rouleau GA: Somatic mosaicism in the central nervous system in spinocerebellar ataxia type 1 and Machado-Joseph disease. Ann Neurol 1996;40:199-206.
12. Palau F, De Michele G, Vilchez JJ, Pandolfo M, Monrós E, Cocozza S, Smeyers P, Lopez-Arlandis J, Campanella G, Di Donato S, Filla A: Early-onset ataxia with cardiomyopathy and retained tendon reflexes maps to the Friedreich's ataxia locus on chromosome 9q. Ann Neurol 1995;37:359-362.