{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,10]],"date-time":"2026-01-10T20:45:49Z","timestamp":1768077949448,"version":"3.49.0"},"reference-count":6,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2012,1,12]],"date-time":"2012-01-12T00:00:00Z","timestamp":1326326400000},"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":[[2012,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p><jats:italic>Introduction:<\/jats:italic> Chorea\u2010acanthocytosis (ChAc) is a rare autosomal recessive disease characterized by involuntary movements, seizures, cognitive changes, myopathy, and axonal neuropathy. <jats:italic>Methods:<\/jats:italic> We report a patient who presented with gait impairment and dysarthria. Clinical and neurophysiological assessment disclosed upper and lower motor neuron signs suggestive of motor neuron disease (MND). <jats:italic>Results:<\/jats:italic> Later observation of involuntary movements prompted further investigation. Acanthocytes were identified, and the patient's chorein level was low. Genetic studies identified a novel double heterozygous mutation of the chorein gene involving an exon\u2010stop mutation associated with another mutation that can affect the normal splicing of the RNA. <jats:italic>Conclusions:<\/jats:italic> We speculate that this genetic mutation could cause the atypical presentation. ChAc should be included in the differential diagnosis of atypical MND. Muscle Nerve, 2012<\/jats:p>","DOI":"10.1002\/mus.22269","type":"journal-article","created":{"date-parts":[[2011,8,11]],"date-time":"2011-08-11T14:43:02Z","timestamp":1313073782000},"page":"293-295","source":"Crossref","is-referenced-by-count":10,"title":["Chorea\u2010acanthocytosis presenting as motor neuron disease"],"prefix":"10.1002","volume":"45","author":[{"given":"Dulce","family":"Neutel","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gabriel","family":"Miltenberger\u2010Miltenyi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ines","family":"Silva","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mamede","family":"de Carvalho","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2012,1,12]]},"reference":[{"key":"e_1_2_4_2_2","volume-title":"GeneReviews [Internet]","author":"Dobson\u2010Stone C","year":"1993"},{"key":"e_1_2_4_3_2","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000250356.78092.cc"},{"key":"e_1_2_4_4_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.20200"},{"key":"e_1_2_4_5_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00294306"},{"key":"e_1_2_4_6_2","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.62.4.611"},{"key":"e_1_2_4_7_2","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000250356.78092.cc"}],"container-title":["Muscle &amp; Nerve"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmus.22269","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmus.22269","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mus.22269","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,10]],"date-time":"2023-10-10T05:14:58Z","timestamp":1696914898000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mus.22269"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,1,12]]},"references-count":6,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2012,2]]}},"alternative-id":["10.1002\/mus.22269"],"URL":"https:\/\/doi.org\/10.1002\/mus.22269","archive":["Portico"],"relation":{},"ISSN":["0148-639X","1097-4598"],"issn-type":[{"value":"0148-639X","type":"print"},{"value":"1097-4598","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,1,12]]}}}