{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T10:39:02Z","timestamp":1790764742574,"version":"4.1.0"},"reference-count":48,"publisher":"Society for Neuroscience","issue":"52","license":[{"start":{"date-parts":[[2008,6,26]],"date-time":"2008-06-26T00:00:00Z","timestamp":1214438400000},"content-version":"vor","delay-in-days":183,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-sa\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J. Neurosci."],"published-print":{"date-parts":[[2007,12,26]]},"abstract":"<jats:p>\n                    Mice heterozygous for the radiation-induced Sprawling (\n                    <jats:italic>Swl<\/jats:italic>\n                    ) mutation display an early-onset sensory neuropathy with muscle spindle deficiency. The lack of an H reflex despite normal motor nerve function in the hindlimbs of these mutants strongly suggests defective proprioception. Immunohistochemical analyses reveal that proprioceptive sensory neurons are severely compromised in the lumbar dorsal root ganglia of newborn\n                    <jats:italic>Swl<\/jats:italic>\n                    \/+ mice, whereas motor neuron numbers remain unaltered even in aged animals. We have used positional cloning to identify a nine base-pair deletion in the cytoplasmic dynein heavy chain 1 gene (\n                    <jats:italic>Dync1h1<\/jats:italic>\n                    ) in this mutant. Furthermore, we demonstrate that\n                    <jats:italic>Loa<\/jats:italic>\n                    \/+ mice, which have previously been shown to carry a missense point mutation in\n                    <jats:italic>Dync1h1<\/jats:italic>\n                    that results in late-onset motor neuron loss, also present with a severe, early-onset proprioceptive sensory neuropathy. Interestingly, in contrast to the\n                    <jats:italic>Loa<\/jats:italic>\n                    mutation, the\n                    <jats:italic>Swl<\/jats:italic>\n                    mutation does not delay disease progression in a motor neuron disease mouse model overexpressing a human mutant superoxide dismutase (SOD1\n                    <jats:sup>G93A<\/jats:sup>\n                    ) transgene. Together, we provide\n                    <jats:italic>in vivo<\/jats:italic>\n                    evidence that distinct mutations in cytoplasmic dynein can either result in a pure sensory neuropathy or in a sensory neuropathy with motor neuron involvement.\n                  <\/jats:p>","DOI":"10.1523\/jneurosci.4338-07.2007","type":"journal-article","created":{"date-parts":[[2007,12,26]],"date-time":"2007-12-26T13:29:31Z","timestamp":1198675771000},"page":"14515-14524","source":"Crossref","is-referenced-by-count":149,"title":["Proprioceptive Sensory Neuropathy in Mice with a Mutation in the Cytoplasmic Dynein Heavy Chain 1 Gene"],"prefix":"10.1523","volume":"27","author":[{"given":"Xiang-Jun","family":"Chen","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eleni N.","family":"Levedakou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kathleen 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