Involvement of spinal motor neurons in parkin-positive autosomal recessive juvenile parkinsonism
Article first published online: 20 NOV 2007
2007 Japanese Society of Neuropathology
Volume 28, Issue 1, pages 74–80, February 2008
How to Cite
Sasaki, S., Shirata, A., Yamane, K. and Iwata, M. (2008), Involvement of spinal motor neurons in parkin-positive autosomal recessive juvenile parkinsonism. Neuropathology, 28: 74–80. doi: 10.1111/j.1440-1789.2007.00829.x
- Issue published online: 20 NOV 2007
- Article first published online: 20 NOV 2007
- Received 12 February 2007; revised 26 March 2007 and accepted 27 March 2007.
- amyotrophic lateral sclerosis;
- autosomal recessive juvenile parkinsonism;
- Lewy body;
- motor neuron;
- parkin gene
We intensively examined the spinal cord of an autosomal recessive juvenile parkinsonism (ARJP) female patient with a homozygous exon 3 deletion in the parkin gene, anticipating a possible involvement of anterior horn neurons. Although the clinical features of the patient were consistent with parkinsonism as a result of parkin mutation, her tendon reflex was abolished in the lower limbs. This feature was in contrast with hyperreflexia, usually found in previous reports of ARJP. Histologically, on the level of the cervical, thoracic, and sacral spinal cord, anterior horn neurons were well preserved and normal. However, the lumbar spinal cord exhibited many swellings of proximal axons (spheroids) and degenerative changes in the somata of the large anterior horn neurons such as central chromatolysis, cystatin C-negative small eosinophilic inclusions, and eosinophilic Lewy body-like inclusions. Ultrastructurally, accumulations of neurofilaments and abnormal structures, such as inclusion bodies similar to skein-like inclusions and disorganized rough endoplasmic reticulum, were observed in the somata and neuronal processes. Lewy body-like inclusions in this study were positively immunostained for both α-synuclein and ubiquitin that closely resemble Lewy bodies, but are different from Lewy body-like inclusions negatively immunostained for α-synuclein in amyotrophic lateral sclerosis. These findings suggest that eosinophilic inclusions that closely resemble Lewy bodies may be formed in the spinal motor neurons of ARJP patients with parkin mutations and the motor neurons of these patients may be vulnerable to neurodegeneration.