Coexistence of tuberous sclerosis and Friedreich ataxia

Journal of the Neurological Sciences

Volumn 221, Issue 1-2, 2004, Pages 91-93

  Walker, Melanie ^a   Samii, Ali ^a,b   Bird, Thomas ^a,b,c  

^a UNIVERSITY OF WASHINGTON   (United States)

^b VA Puget Sound Heath Care System   (United States)

^c VA Puget Sound   (United States)

Author keywords

Chromosome 9; Friedreich ataxia; Tuberous sclerosis

Indexed keywords

CARBAMAZEPINE; DNA; PHENYTOIN;

ADULT; ANAMNESIS; ANTICONVULSANT THERAPY; ARTICLE; ATAXIA; BRAIN INJURY; CARDIOVASCULAR MALFORMATION; CASE REPORT; CEREBELLUM DEGENERATION; CHROMOSOME 9; CORRELATION ANALYSIS; DISEASE COURSE; FEMALE; FRIEDREICH ATAXIA; GENE MUTATION; HEREDITARY ATAXIA; HUMAN; NEUROLOGIC DISEASE; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; SEIZURE; TUBEROUS SCLEROSIS;

ADULT; ANTICONVULSANTS; BRAIN; CHROMOSOMES, HUMAN, PAIR 9; EPILEPSY; FEMALE; FRIEDREICH ATAXIA; HUMANS; MAGNETIC RESONANCE IMAGING; POINT MUTATION; TUBEROUS SCLEROSIS;

EID: 2642524302     PISSN: 0022510X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jns.2004.02.009     Document Type: Article

References (3)

1. Dabora S.L., Jozwaik S., Franz D.N., et al. Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs. Am. J. Hum. Genet. 68:2001 (Jan);64-80
2. Hyman M.H., Whittemore V.H. National Institutes of Health consensus conference: tuberous sclerosis complex. Arch. Neurol. 57:2000 (May);662-665
3. Durr A., Cossee M., Agid Y., et al. Clinical and genetic abnormalities in patients with Friedreich ataxia. N. Engl. J. Med. 335:1996 (Oct 17);1169-1175