Coexistence of tuberous sclerosis and Friedreich ataxia.

Abstract

Tuberous sclerosis (TS) is caused by point mutations in the TSC1 or TSC2 genes on chromosomes 9q33-34 or 16p13, respectively. Clinical manifestations can be quite variable but are primarily limited to cutaneous, neurologic, and cardiovascular abnormalities. Phenotypes range from neurologically devastated to those with silent lesions. A 34-year-old patient with genetically documented TSC1 developed progressive ataxia over a decade, without TS lesions to correlate with this finding. After evaluation of common causes including long-term antiepileptic regimens, DNA testing for hereditary ataxias was performed and revealed the presence of an additional mutation on chromosome 9. The patient was homozygous for the Friedreich ataxia (FA) mutation, with 500 and 700 GAA repeats in the FRDA gene on chromosome 9q13. There is no established relationship between these two disorders and the occurrence of two mutations on the same chromosome is probably coincidental but emphasizes the importance of searching for additional genetic causes when the phenotype does not fit with an established genetic diagnosis.

• Authors: Melanie Walker, Ali Samii, Thomas Bird
• Journal: Journal of the neurological sciences (J Neurol Sci) Vol. 221 Issue 1-2 Pg. 91-3 (Jun 15 2004) ISSN: 0022-510X [Print] Netherlands
• PMID: 15178220 (Publication Type: Case Reports, Journal Article)

Chemical References

• Anticonvulsants

Topics

• Adult
• Anticonvulsants (therapeutic use)
• Brain (pathology)
• Chromosomes, Human, Pair 9 (genetics)
• Epilepsy (drug therapy)
• Female
• Friedreich Ataxia (complications, diagnosis)
• Humans
• Magnetic Resonance Imaging
• Point Mutation
• Tuberous Sclerosis (complications, diagnosis, genetics)