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ABSTRACT Background Recessive X-linked dystonia-parkinsonism almost exclusively affects men. We investigated the genetic mechanisms causing this disorder in a female patient. Methods We confirmed the presence of an X-linked dystonia-parkinsonism-specific change in our patient by sequencing. In addition, we employed quantitative real-time PCR and array comparative genomic hybridization to determine the patient's X-chromosome copy number. Results The patient's sequence electropherogram suggested a higher amount of the mutated allele compared with the wild-type allele. Subsequently, extensive gene dosage analyses revealed a copy number of the X chromosomes between 1 and 2, indicating loss of 1 X chromosome in a subset of cells. Phenotypic reevaluation of the patient showed several clinical features of Turner syndrome. Conclusions Our female X-linked dystonia-parkinsonism patient suffered from an undiagnosed X-chromosome monosomy in a subset of cells (45,X/46,XX), suggesting an atypical Turner syndrome and contributing the first molecular explanation for the manifestation of an X-linked dystonia-parkinsonism phenotype in women. © 2013 Movement Disorder Society [ABSTRACT FROM AUTHOR]

Precipitating antibodies prepared in rabbits with human seminal plasma (HSP) have been used in a preliminary study to define the antigenicity of HSP by use of gel precipitin methods. Also, a method for evaluating and preserving liquid precipitates of acid phosphatase in polyacrylamide is described. Some ten or eleven antigens were demonstrated by Ouchterlony agar immunodiffusion (ID). Eight of these appeared to be HSP-specific and two or three were also found in normal human serum (NILS). Five of the HSP-specific antigens were shown by agar immunoelectrophoresis (IEP) and by ID to be acid phosphatase. Four of these constituted the basic isoenzyme pattern and were shown by IEP and ID to be shared by prostatic fluid (HPF). Titration of HPF by ID yielded antigen titres of 46, 33, 17 and 3 for the four isoenzymes. IEP patterns obtained with lISP and HPF showed two isoenzymes migrating to the a-globulin zone. The third isoenzyme migrated to the a-2-fast β area, while a fourth was seen as a slow beta precipitin arc formed consistently by HPF, and variably by HSP. HSP contained a fifth isoenzyme which also migrated to the slow β area. Human prostate extract (HPE) showed only two, sometimes three, of these components, one of the slower components being frequently faint in appearance or absent. In HSP and HPF isoenzyme migrating to the a-2-fast β zone exhibited two distinct characteristics: biphasic migration and limited diffusion, suggesting a heterogeneous high molecular weight isoenzyme or an isoenzyme complex. However, observed differences between HSP, HPF and HPE in migration rate, relative concentrations of subfractions, lateral diffusion, etc. leave open the question of the nature of the heterogeneity. [ABSTRACT FROM AUTHOR]