Clinical and genetic abnormalities in patients with Friedreich's ataxia

Article Abstract:

Diagnosing specific genetic abnormalities in Friedreich's ataxia may improve the prognosis of this common neurodegenerative inherited disease. The genetic make-up of 187 patients with Friedreich's ataxia aged 2 to 51 years was more varied than expected, explaining the unstable genetic expansion during transmission. Many patients had more genetic repeats in chromosome 9 than previously found. One-fourth were older at the initial diagnosis of ataxia and had more intact tendon reflexes. Some deterioration depends on both genetic factors and the length of time spent ill, while the duration of ataxia alone is associated with other complications.

Research, Chromosome abnormalities, Friedreich's ataxia, Molecular genetics

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Association between early-onset Parkinson's disease and mutations in the parkin gene

Article Abstract:

People who develop Parkinson's disease at an early age may have a mutation in the parkin gene. This gene has been linked to early-onset Parkinson's disease. In a study of 73 families and 100 individuals with early-onset Parkinson's disease, 49% of the families and 77% of the individuals whose symptoms began before the age of 21 had a mutation in the parkin gene. Only 3% of the individuals whose symptoms began after the age of 30 had a parkin mutation. Thirty-five different mutations were found in the parkin gene.

Health aspects, Gene mutations, Gene mutation, Parkinson's disease, Parkinson disease

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Association of multidrug resistance in epilepsy with a polymorphism in the drug-transporter gene ABCB1

Article Abstract:

People with epilepsy that cannot be treated with drugs may have a gene variation that affects drug metabolism. In a study of 315 people with epilepsy, those with drug-resistant epilepsy were more than twice as likely to have the CC variation of the ABCB1 gene than the TT variation compared to patients who were successfully treated. The ABCB1 gene codes for a protein that can pump at least four different anticonvulsants out of the cell.

Drug therapy, Epilepsy, Drug resistance

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