[Immunohistochemical analysis of brainstem functions in autopsy cases of Fukuyama congenital muscular dystrophy].

OBJECTIVE

Sudden unexpected death (SUD) may occur in patients with Fukuyama congenital muscular dystrophy (FCMD). In this study, we performed immunohistochemical examination of SUD-related functional markers in the brainstem of autopsy cases of FCMD, in order to clarify the pathogenesis of SUD.

METHODS

The examination was conducted on 9 autopsy cases of FCMD, including a case of SUD and 3 of acute death (AD) in which SUD was suspected but not confirmed. We immunohistochemically examined serial brainstem sections for serotonin and catecholamine neurons, neuropeptides, and c-Fos, a neuron activation marker.

RESULTS

1. Number of serotonin neurons was reduced in 7 cases, including the cases of SUD and AD. 2) Expressions of neuropeptides were exaggerated in the spinal trigeminal nucleus in 5 cases, including the SUD and AD ones. 3) Neurons immunoreactive for c-Fos were found in 3 cases, including the SUD and AD cases. 4) The suspected case of SUD showed changes in all SUD markers.

CONCLUSIONS

Changes in the tested markers were found predominantly in the SUD and AD cases, indicating functional fragility in the brainstem of patients with FCMD.