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Dopa-responsive parkinsonism phenotype of Machado-Joseph disease: Confirmation of 14q CAG expansion

✍ Scribed by P. J. Tuite; E. A. Rogaeva; P. H. St George-Hyslop; Dr A. E. Lang


Publisher
John Wiley and Sons
Year
1995
Tongue
English
Weight
476 KB
Volume
38
Category
Article
ISSN
0364-5134

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✦ Synopsis


Alternating hemiplegia syndrome: electroencephalogram, brain mapping and brain perfusion SPECT scan study in a Chinese girl. J. Child Neurol Bode H, Wick H. Abnormal #cerebral haemodynamics during attacks of alternating hemiplegia of childhood. Child New Syst Zupanc ML, Dobkin JA, Perlman SB. '"I-Iodoamphetamine SPECT brain imaging in alternating hemiplegia. Pediatr Neurol Siemes H, Cordes M. Single-photon emission computed tomography-investigations of alternating hemiplegia of childhood.


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An expanded and unstable CAG repeat in the coding region of the MJD1 gene is the mutation responsible for spinocerebellar ataxia 3/Machado-Joseph disease. In order to determine whether there was a higher degree of instability in affected regions, the size of the expanded CAG repeat was analyzed in d