Akira Sano, M.D., PhD
Professor in Psychiatry, Kagoshima
|Dr Sano, (seated, second from the left) with colleagues of the Chorea-Acanthocytosis (ChAc) Research Group, Japan|
moved to Kagoshima from Ehime, Japan
in 2002 with several colleagues; Drs. Nakamura, Tomemori, Ichiba, and Kato. We
had already reported the discovery of the gene, VPS13A, responsible for ChAc before leaving Ehime (Nat Genet 28:
121-2, 2001), which was based on our own clinical experiences with ChAc
our group of psychiatrists is working at the Department of Psychiatry,
Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, located at the most southwestern tip of the
Kyushu island of Japan.
are definite ChAc cases in this area and we reported neuropsychiatric
characteristics of the patient’s clinical course (J Neurol Sci 263: 124-132,
2007). We reported other Japanese clinical phenotypes of ChAc presenting
dilated cardiomyopathy (Mov Disord 22: 1669-1670, 2007) and upper motor neuron
degeneration (Acta Neuropathol 119: 271-273, 2010) in genetically defined
cases. Internationally, one third of clinically diagnosed ChAc cases have been
reported from Japan.
present, ours is the only laboratory in the world available for genetic
diagnostic analysis for ChAc because VPS13A
is so large to analyze as a clinical routine genetic test. We have recently
developed a comprehensive screening method to identify mutations and/or
copy-number variations in the VPS13A
gene and to detect expression of the product of VPS13A gene, chorein, by Western blot analysis. We
are studying the mechanism of neurodegeneration in ChAc at the molecular level
as well as continuing clinical research. We produced a ChAc-model mouse using a
gene-targeting technique to delete exons 60-61 which corresponds to the human
disease mutation (J Neurochem 92: 759-66, 2005). We then demonstrated using
this model-mouse that chorein deficiency leads to upregulation of gephyrin and
GABA(A) receptor (Biochem Biophys Res Commun 351: 438-42, 2006). We are now
engaged in the research on finding chorein-interacting proteins.
Planck Institute for Human Cognitive and Brain Sciences, Leipzig, Germany
of mesial temporal lobe epilepsy in chorea-acanthocytosis: Scheid 2009 reports
of three patients with chorea-acanthocytosis manifesting as a predominant
epilepsy syndrome. It is pointed out that epilepsy surgery might be considered
but has to be discussed very restrictively since seizures in ChAc are due to a
familial disease. The article also raises problem that the contingent of cryptic
epilepsy cases may be ChAc.
Pedro J. Garcia
of Neurology, Fundacion Jimenez Diaz, Universidad Autonoma and CIBERNED, Madrid, Spain
Brain Stimulation in Chorea Acanthocytosis: Ruiz 2009 reports the treatment and
follow up of a Spanish ChAc patient who underwent deep brain stimulation with
positive effect on chorea and dystonia even twelve months after the surgery.
Dysarthria was not improved and the electrical parameters of the stimulator had
to be adjusted, but the patient came out better than before the surgery.
Benedikt Bader, MD
Klinik und Poliklinik, Ludwig-Maximilians-Universitat, Munchen, Germany
Protrusion and Feeding Dystonia: A Hallmark of Chorea-Acanthocytosis: Bader
2009 reports in detail the mechanisms of the phenomenon of tongue protrusion
dystonia while eating in ChAc. This is a diagnostic hallmark but also is
involved in the tongue and lip biting and the subsequent weight loss in ChAc
patients. Furthermore, swallowing problems are examined in detail revealing
that the swallowing is obviously only impaired in the oral phase of swallowing.
When the food passes the tongue, the mechanisms are intact again.