{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T16:26:00Z","timestamp":1791217560729,"version":"4.1.0"},"reference-count":24,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2013,12,16]],"date-time":"2013-12-16T00:00:00Z","timestamp":1387152000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Muscle and Nerve"],"published-print":{"date-parts":[[2014,2]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p><jats:italic>Introduction<\/jats:italic>: Complex forms of spastic paraplegia (SPG) are rare and genetically heterogeneous. In apparently sporadic cases, analysis of known SPG genes often fails to reveal a mutation. <jats:italic>Methods<\/jats:italic>: We report a 24\u2010year\u2010old patient with a syndrome of spastic paraplegia, ataxia, frontotemporal dementia, and lower motor neuron involvement. <jats:italic>Results<\/jats:italic>: Screening of the patient's genome for copy number variation identified a novel 276 kb deletion spanning the first exon of the <jats:italic>GRID2<\/jats:italic> gene. MRI scan showed atrophy of the cerebellum, and electromyography revealed a chronic disorder of motor neurons or their axons. A deletion in <jats:italic>GRID2<\/jats:italic>, coding for the glutamate receptor delta\u20102 subunit precursor protein, was excluded in either parent, suggesting that the deletion in the index patient occurred <jats:italic>de novo<\/jats:italic>. <jats:italic>Conclusions<\/jats:italic>: We hypothesize that the deletion identified here is the cause of our patient's clinical presentation, due to the resemblance to the <jats:italic>GRID2<\/jats:italic> mutation phenotype in mouse models. <jats:italic>Muscle Nerve<\/jats:italic> <jats:bold>49<\/jats:bold>: 289\u2013292, 2014<\/jats:p>","DOI":"10.1002\/mus.24096","type":"journal-article","created":{"date-parts":[[2013,10,12]],"date-time":"2013-10-12T12:24:36Z","timestamp":1381580676000},"page":"289-292","source":"Crossref","is-referenced-by-count":34,"title":["<i>De novo<\/i> partial deletion in <i>GRID2<\/i> presenting with complicated spastic paraplegia"],"prefix":"10.1002","volume":"49","author":[{"given":"Andr\u00e9","family":"Maier","sequence":"first","affiliation":[{"name":"Department of Neurology Campus Virchow\u2010Klinikum Charit\u00e9 \u2013 University Hospital Charit\u00e9platz 1 10117 Berlin Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eva","family":"Klopocki","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics and Human Genetics Campus Virchow\u2010Klinikum Charit\u00e9 \u2013 University Hospital Berlin Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Denise","family":"Horn","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics and Human Genetics Campus Virchow\u2010Klinikum Charit\u00e9 \u2013 University Hospital Berlin Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andreas","family":"Tzschach","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics Research Group 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