PubMed · 10928567
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R J Elble. 2000. Motion analysis to the rescue?. https://doi.org/10.1002/1531-8257(200007)15%3A4%3C595%3A%3Aaid-mds1001%3E3.0.co%3B2-2
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The cells of an ataxia-oculomotor apraxia type 1 (AOA1) patient, homozygous for a new aprataxin mutation (T739C), were treated with camptothecin, an inhibitor of DNA topoisomerase I which induces DNA single-strand breaks. DNA damage was evaluated by cytogenetic analysis of chromosomal aberrations. The results obtained showed marked and dose-related increases in induced chromosomal aberrations in the patient and her heterozygous mother compared to the intrafamilial wild-type control. The alkaline comet assay confirmed this pattern. Moreover, the AOA1 cells did not show hypersensitivity to ionizing radiation, i.e. X-rays. These findings clearly indicate the direct involvement of aprataxin in the DNA single-strand-break repair machinery.
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The term "alien hand syndrome (AHS)" comprises many clinical signs of which the common features are the involuntary motor movement of the affected limb and the denial of limb ownership. It can result from several diseases involving corpus callosum or medial frontal cortex. Two major types of AHS were previously classified, callosal and frontal types. Moreover posterior subtype of which the lesions do not involve corpus callosum have been reported. In the present report, the authors describe a 57-year-old man with AHS, aggressive behavior and hemispatial neglect which are the rare manifestations of callosal damage. Neuroimaging demonstrated subacute infarction of entire corpus callosum from the rostrum to splenium. A review of the literature on these abnormalities is included in the present paper.