{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T08:50:09Z","timestamp":1790844609384,"version":"4.1.0"},"reference-count":17,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2015,3,15]],"date-time":"2015-03-15T00:00:00Z","timestamp":1426377600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Research Fund of the University of Antwerp, Belgium"},{"name":"Fund for Scientific Research-Flanders, Belgium"},{"name":"Research Fund of the Medical University-Sofia, Bulgaria"},{"name":"Tom Wahlig Foundation, Jena, Germany"},{"name":"The Boehringer Ingelheim Fund, Germany"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Movement Disorders"],"published-print":{"date-parts":[[2015,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Mutations in <jats:italic>TUBB4A<\/jats:italic> have been associated with a spectrum of neurological conditions, ranging from the severe hypomyelination with atrophy of the basal ganglia and cerebellum syndrome to the clinically milder dystonia type 4. The presence of movement abnormalities was considered the common hallmark of these disorders.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Clinical, neurological, and neuroimaging examinations, followed by whole exome sequencing and mutation analysis, were performed in a highly consanguineous pedigree with five affected children.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We identified a novel c.568C&gt;T (p.H190Y) <jats:italic>TUBB4A<\/jats:italic> mutation that originated de novo in the asymptomatic mother. The affected subjects presented with an early\u2010onset, slowly progressive spastic paraparesis of the lower limbs, ataxia, and brain hypomyelination, in the absence of dystonia or rigidity.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Our study adds complicated hereditary spastic paraplegia to the clinical spectrum of <jats:italic>TUBB4A<\/jats:italic>\u2010associated neurological disorders. We establish genotype\u2013phenotype correlations with mutations located in the same region in the tertiary structure of the protein. \u00a9 2015 International Parkinson and Movement Disorder Society<\/jats:p><\/jats:sec>","DOI":"10.1002\/mds.26196","type":"journal-article","created":{"date-parts":[[2015,3,15]],"date-time":"2015-03-15T11:20:22Z","timestamp":1426418422000},"page":"854-858","source":"Crossref","is-referenced-by-count":40,"title":["Mosaic dominant <i>TUBB4A<\/i> mutation in an inbred family with complicated hereditary spastic paraplegia"],"prefix":"10.1002","volume":"30","author":[{"given":"Dahlia","family":"Kancheva","sequence":"first","affiliation":[{"name":"Molecular Neurogenomics Group Department of Molecular Genetics VIB Antwerp Belgium"},{"name":"Neurogenetics Laboratory, Institute Born\u2010Bunge, University of Antwerp  Antwerp Belgium"},{"name":"Department of Medical Chemistry and Biochemistry Molecular Medicine Center, Medical University\u2010Sofia  Sofia Bulgaria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Teodora","family":"Chamova","sequence":"additional","affiliation":[{"name":"Department of Neurology Medical University\u2010Sofia  Sofia Bulgaria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Velina","family":"Guergueltcheva","sequence":"additional","affiliation":[{"name":"Department of Neurology Medical University\u2010Sofia  Sofia Bulgaria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vanio","family":"Mitev","sequence":"additional","affiliation":[{"name":"Department of Medical Chemistry and Biochemistry Molecular Medicine Center, Medical University\u2010Sofia  Sofia Bulgaria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dimitar N.","family":"Azmanov","sequence":"additional","affiliation":[{"name":"Department of Diagnostic Genomics PathWest, QEII Medical Centre Nedlands WA Australia"},{"name":"Harry Perkins Institute of Medical Research and Centre for Medical Research, The University of Western Australia  Perth Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luba","family":"Kalaydjieva","sequence":"additional","affiliation":[{"name":"Harry Perkins Institute of Medical Research and Centre for Medical Research, The University of Western Australia  Perth Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ivailo","family":"Tournev","sequence":"additional","affiliation":[{"name":"Department of Neurology Medical University\u2010Sofia  Sofia Bulgaria"},{"name":"Department of Cognitive Science and Psychology New Bulgarian University  Sofia Bulgaria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Albena","family":"Jordanova","sequence":"additional","affiliation":[{"name":"Molecular Neurogenomics Group Department of Molecular Genetics VIB Antwerp Belgium"},{"name":"Neurogenetics Laboratory, Institute Born\u2010Bunge, University of Antwerp  Antwerp Belgium"},{"name":"Department of Medical Chemistry and Biochemistry Molecular Medicine Center, Medical University\u2010Sofia  Sofia Bulgaria"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2015,3,15]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.23832"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.23829"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.03.018"},{"key":"e_1_2_8_5_1","first-page":"107","article-title":"Expansion of the spectrum of TUBB4A\u2010related disorders: a new phenotype associated with a novel mutation in the TUBB4A gene","volume":"15","author":"Blumkin 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