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December 1, 1976Journal of Medical GeneticsOpen Access

Study on a family with anderson--Fabry's disease and associated familial spastic paraplegia.

Alkis Pierides G Holti A L Crombie DeWayne Roberts Susan E. Gardiner A. Colling Jane Anderson

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Abstract

A family in the north-east of England with Anderson--Fabry's disease is presented. Alpha-galactosidase activity in plasma and white cells was significantly reduced in three adult male members of the family. One of them had an abnormal chromosome karyotype pattern with an extra Y chromosome (47,XYY) and he was clinically less severely affected than his brothers. Coincidentally five other members of the family suffered from a form of familial spastic paraplegia.

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Pierides et al. (1976) studied this question.

synapsesocial.com/papers/6a70b7dcce524a4339c46c15 https://doi.org/10.1136/jmg.13.6.455

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