@article{oai:hirosakiuhw.repo.nii.ac.jp:00000034,
 author = {Yoshimura, Noriaki},
 issue = {1},
 journal = {弘前医療福祉大学紀要},
 month = {Mar},
 note = {Article, Lafora disease（LD）is an autosomal recessively inheritable neurodegeneration due to glycogen metabolic disorder, characterized pathologically by the presence of Lafora bodies（LB）（called polyglucosan bodies; malformed insoluble glucose polymers）in CNS neurons and cells in many other organs. Recently, it has become evident that about 90% of cases of LD are caused by mutations in
either the EPM2A（laforin）or the EPM2B（malin）gene. Few previous EM studies have observed LB in the developing phase in detail. This study aimed at obtaining key findings that may reveal molecular events involved in the disease mechanisms underlying the morphology, by EM observations on LB in
brain tissue from a previously reported case of LD. The observations revealed that the two main components of LB, i.e. poorly branched, irregular fine filaments and amorphous small dense granules, were distributed sparsely in the LB in the early phase, whereas in the developing phase the fine filaments were innumerable together with a substantial number of dense granules and polysomes along with some lysosomes and no apparent autophagosomes. They intermingled and formed LB. In the developed phase, cored LB consisted of aggregates of dense granules forming the core and radially arranged filaments forming the outer rim. Recently, it has been reported that the lack of laforin-malin complexes causes the dysfunction of autophagy, which plays a primary role in the LB formation. The
lack of Laforin-malin complexes and impaired autophagy for aggresome clearance were discussed. In conclusion, the fine structural changes of LB in the developing phase could be the key findings that link to the molecular mechanisms of not only LB but also LD., 弘前医療福祉大学紀要, 3(1), 2012, p.19-32},
 pages = {19--32},
 title = {Brain pathology of Lafora disease : fine structural changes of Lafora (polyglucosan) bodies in the developing phase of the formation},
 volume = {3},
 year = {2012}
}