Autosomal dominant sensory ataxia: a neuroaxonal dystrophy
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Autosomal dominant sensory ataxia (ADSA), a rare hereditary ataxia, is characterized by progressive dysfunction of central sensory pathways. Its pathological features have not been previously documented. We report a case of a 61-year-old man with ADSA who died of congestive heart failure. Autopsy specimens of brain, thoracolumbar spinal cord, peripheral nerve and skeletal muscle were examined. There was no abnormality on gross examination. Microscopically, there were occasional swollen axons within the cerebral cortex and deep nuclei, particularly the subthalamic nucleus, with no neuronal loss, gliosis or microglial activation. There were many axonal spheroids within the medulla, particularly in the dorsal column nuclei. Axonal spheroids were also seen in the dorsal columns and ventral horns in the thoracolumbar spinal cord, but there was no Wallerian degeneration or demyelination. Amyloid precursor protein (APP) immunostaining of some of the spheroids suggested continuing dysfunction of axoplasmic flow in some regions. There was mild inflammation of peripheral nerve roots but no spheroid, and patchy chronic inflammation of skeletal muscle. In summary, the major pathological process in ADSA is a neuroaxonal dystrophy most prominent in the dorsal columns and dorsal column nuclei, consistent with the clinical pattern of central sensory pathway degeneration.
KeywordsAutosomal dominant sensory ataxia Spinocerebellar degeneration Neuroaxonal dystrophy
The authors are indebted to the patient and his family for their participation. We also thank Dr. Sarah Colwell at the Moncton Hospital for initially contacting us about this patient and organizing transportation of tissue to our institution. G.A.R. and N.D. are supported by the Canadian Institutes of Health Research (CIHR). P.V. is supported by the Fonds de la Recherche en Santé Québec (FRSQ). The authors have no conflict of interest to disclose.
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