Reply: chorea-acanthocytosis with an autosomal-dominant trait

Excerpt

First, we would like to thank Bader et al. [1] for their comments on our paper, “A neuropathological study of autosomal-dominant chorea-acanthocytosis (ChAc) with a mutation of VPS13A” [3]. According to their comments, our genetic data associated with the pedigree have not completely excluded the possibility that there may be another mutation in the VPS13A gene [4]. In the study of the genetic data, we performed mutation analysis with cDNA from ChAc patients, and so we feel that the comment of Bader et al. on the genetic analyses is fair and reasonable. We are also grateful for their comments on the biochemical analysis of skeletal muscles in ChAc described in our report [5]. Unfortunately, we could not perform chorein expression assay by Western blotting analysis because of a lack of samples of muscle, brain and other organs. Immunohistochemical analysis of paraffin-embedded brain sections for chorein is currently underway in our laboratory [3]. As suggested by Bader et al. [1], further studies are needed in other members of the present family using other mutation screening methods and Western blotting analyses, as well as neuropathological and immunohistochemical studies. However, our patient’s father and the other family members showed some clinical manifestations of ChAc and the neurological abnormalities were inherited from the parent to the child. These clinical data were different from those of previous reports regarding autosomal-recessive ChAc. Therefore, we diagnosed our autopsy case and his family as having an autosomal-dominant trait. …