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Background   Dystonia musculorum  ( dt ) is an autosomal recessive hereditary neuropathy with a characteristic uncoordinated movement and is caused by a defect in the  bullous pemphigoid antigen 1  ( BPAG1 ) gene. The neural isoform of  BPAG1  is expressed in various neurons, including those in the central and peripheral nerve systems of mice. However, most previous studies on neuronal degeneration in  BPAG1 -deficient mice focused on peripheral sensory neurons and only limited investigation of the autonomic system has been conducted.    Methods  In this study, patterns of nerve innervation in cutaneous and iridial tissues were examined using general neuronal marker protein gene product 9.5 via immunohistochemistry. To perform quantitative analysis of the autonomic neuronal number, neurons within the lumbar sympathetic and parasympathetic ciliary ganglia were calculated. In addition, autonomic neurons were cultured from embryonic  dt/dt  mutants to elucidate degenerative patterns  in vitro . Distribution patterns of neuronal intermediate filaments in cultured autonomic neurons were thoroughly studied under immunocytochemistry and conventional electron microscopy.    Results  Our immunohistochemistry results indicate that peripheral sensory nerves and autonomic innervation of sweat glands and irises dominated degeneration in  dt/dt  mice. Quantitative results confirmed that the number of neurons was significantly decreased in the lumbar sympathetic ganglia as well as in the parasympathetic ciliary ganglia of  dt/dt  mice compared with those of wild-type mice. We also observed that the neuronal intermediate filaments were aggregated abnormally in cultured autonomic neurons from  dt/dt  embryos.    Conclusions  These results suggest that a deficiency in the cytoskeletal linker BPAG1 is responsible for dominant sensory nerve degeneration and severe autonomic degeneration in  dt/dt  mice. Additionally, abnormally aggregated neuronal intermediate filaments may participate in neuronal death of cultured autonomic neurons from  dt/dt  mutants.

Neuronal degeneration in autonomic nervous system of Dystonia musculorum mice