Epilepsy in Friedreich's ataxia is rare. We describe a 9-year-old boy with Friedreich's ataxia who had onset of symptoms in the second year of life and developed a generalized epilepsy at age 5 years. On cerebral magnetic resonance imaging, he has a subependymal gray-matter heterotopia. We suggest that his gray-matter heterotopia might be related to his diagnosis of Friedreich's ataxia and that his early onset of symptoms might be related to the length of his guanine - adenine - Adenine (GAA) triplet repeat expansion. ( J Child Neurol 2005;20:248—250).
Get full access to this article
View all access options for this article.
References
1.
National Institutes of Health Clinical Research Studies: Phase I clinical trial to establish the maximum tolerated dose of idebenone in children, adolescents and adults with Friedreich's ataxia, protocol 0 1 - N - 0 1 6 7, 2 0 0 3 . A c c e s s e d a t http://clinicalstudies.info.nih.gov/cgi/wais/bold032001.pl?B_01-N-0167.html@Friedreich@ataxia .
2.
Durr A., Cossee M., Agid Y., et al: Clinical and genetic abnormalities in patients with Friedreich's ataxia. N Engl J Med1996;335:1169—1175.
3.
Spalice A., Taddeucci G., Perla FM, et al: Periventricular nodular heterotopia: Report of a pediatric series. J Child Neurol2002;17:300—304.
4.
Giza CC, Kuratani JD, Cokely H., Sankar R.: Periventricular nodular heterotopia and childhood absence epilepsy . Pediatr Neurol1999; 20:315—318.
5.
Jiralerspong S., Liu Y., Montermini L., et al: Frataxin shows developmentally regulated tissue-specific expression in the mouse embryo. Neurobiol Dis1997;4:103—113.
6.
Keng WT, Pilz DT, Minns B., FitzPatrick DR: A3243G mitochondrial mutation associated with polymicrogyria. Dev Med Child Neurol2003;45:704—708.
7.
Zand DJ, Simon EM, Pulitzer SB, et al: In vivo pyruvate detected by MR spectroscopy in neonatal pyruvate dehydrogenase deficiency. AJNR Am J Neuroradiol2003;24:1471—1474.
8.
Oppenheimer DR: Brain lesions in Friedreich's ataxia. Can J Neurol Sci1979;6:173—176.
9.
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 . Brain1981;104:589—620.
10.
Filla A., De Michele G, Cavalcanti F., et al: The relationship between trinucleotide (GAA) repeat length and clinical features in Friedreich ataxia. Am J Hum Genet1996;59:554—560.
11.
De Michele G, Filla A., Criscuolo C., et al: Determinants of onset age in Friedreich's ataxia. J Neurol1998;245:166—168.
12.
Artuch R., Aracil A., Mas A., et al: Friedreich's ataxia: Idebenone treatment in early stage patients . Neuropediatrics2002;33:190—193.
13.
Buyse G., Mertens L., Di Salvo G, et al: Idebenone treatment in Friedreich's ataxia: Neurological, cardiac, and biochemical monitoring. Neurology2003 ;60:1679—1681.
14.
Mariotti C., Solari A., Torta D., et al: Idebenone treatment in Friedreich patients: One-year-long randomized placebo-controlled trial. Neurology2003;60:1676—1679
15.
Rustin P., von Kleist-Retzow JC, Chantrel-Groussard K., et al: Effect of idebenone on cardiomyopathy in Friedreich's ataxia: A preliminary study. Lancet1999;354:477—479.
16.
Centers for Disease Control and Prevention : Prevalence of self-reported epilepsy—United States, 1986-1990. JAMA1994;272:1893.
