2006 Research

Sept 16, 2006

Muscle pathology in mice with Kennedy's Disease

Announcing the results of a University of Michigan research study that is related to Kennedy's Disease.  The research project was partially funded by the KDA through the generous donations of our associates, their family, and friends.

Click here to read the report - PDF Document


June 22, 2006

Neurons Grown from Embryonic Stem Cells Restore Function in Paralyzed Rats

For the first time, researchers have enticed transplants of embryonic stem cell-derived motor neurons in the spinal cord to connect with muscles and partially restore function in paralyzed animals. The study suggests that similar techniques may be useful for treating such disorders as spinal cord injury, transverse myelitis, amyotrophic lateral sclerosis (ALS), and spinal muscular atrophy.

The study was funded in part by the NIH’s National Institute of Neurological Disorders and Stroke (NINDS).  


March 19, 2006

Natural history of  spinal and bulbar muscular atrophy (SBMA): a study of  223 Japanese  patients


Note:  A  PDF copy can be downloaded at: http://brain.oxfordjournals.org/cgi/reprint/129/6/1446


Naoki Atsuta1,  Hirohisa Watanabe1,  Mizuki Ito1,   Haruhiko Banno1,  Keisuke Suzuki1,  Masahisa Katsuno1,  Fumiaki  Tanaka1,  Akiko Tamakoshi2 and  Gen Sobue1

1  Departments of Neurology, Nagoya University Graduate School  of Medicine  Nagoya, Japan  2 Preventive Medicine/Biostatistics and Medical  Decision  Making, Nagoya University Graduate School of Medicine Nagoya,  Japan

Correspondence to: Gen Sobue, MD,  Department of Neurology, Nagoya  University Graduate School of Medicine,  Nagoya 466-8550, Japan E-mail: sobueg{at}med.nagoya-u.ac.jp




Spinal  and bulbar muscular atrophy (SBMA) is an adult-onset motoneuron  disease  caused by a CAG-repeat expansion in the androgen receptor  (AR) gene  and for which no curative therapy exists. However,  since recent  research may provide opportunities for medical  treatment, information  concerning the natural history of SBMA  would be beneficial in planning  future clinical trials. We  investigated the natural course of SBMA as  assessed by nine activities  of daily living (ADL) milestones in 223  Japanese SBMA  patients (mean age at data collection = 55.2 years; range  =  30–87 years) followed from 1 to 20 years. All the patients were   diagnosed by genetic analysis. Hand tremor was an early event  that was  noticed at a median age of 33 years. Muscular weakness  occurred  predominantly in the lower limbs, and was noticed  at a median age of 44  years, followed by the requirement of a  handrail to ascend stairs at  49, dysarthria at 50, dysphagia at  54, use of a cane at 59 and a  wheelchair at 61 years. Twenty-one of  the patients developed pneumonia  at a median age of 62 and 15  of them died at a median age of 65 years.  The most common cause  of death in these cases was pneumonia and  respiratory failure.  The ages at onset of each ADL milestone were  strongly correlated  with the length of CAG repeats in the AR gene.  However CAG-repeat  length did not correlate with the time intervals  between  each ADL milestone, suggesting that although the onset age of   each ADL milestone depends on the CAG-repeat length in the AR  gene, the  rate of disease progression does not. The levels of  serum  testosterone, an important triggering factor for  polyglutamine-mediated  motoneuron degeneration, were  maintained at relatively high levels  even at advanced ages.  These results provide beneficial information for  future  clinical therapeutic trials, although further detailed   prospective studies are also needed.