{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,27]],"date-time":"2026-05-27T15:01:40Z","timestamp":1779894100492,"version":"3.53.1"},"reference-count":12,"publisher":"FapUNIFESP (SciELO)","issue":"10","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Arq. Neuro-Psiquiatr."],"published-print":{"date-parts":[[2013,10]]},"abstract":"<jats:p>Familial spinal muscular atrophy (FSMA) associated with the vesicle-associated membrane protein-associated protein B (VAPB) gene is a rare autosomal dominant disease with late onset and slow progression. We studied 10 of 42 patients from 5 families by taking clinical histories and performing physical exams, electrophysiological studies, and genetic tests. All patients presented late onset disease with slow progression characterized by fasciculations, proximal weakness, amyotrophy, and hypoactive deep tendon reflex, except two who exhibited brisk reflex. Two patients showed tongue fasciculations and respiratory insufficiency. Electrophysiological studies revealed patterns of lower motor neuron disease, and genetic testing identified a P56S mutation of the VAPB gene. Although it is a rare motor neuron disease, FSMA with this mutation might be much more prevalent in Brazil than expected, and many cases may be undiagnosed. Genetic exams should be performed whenever it is suspected in Brazil.<\/jats:p>","DOI":"10.1590\/0004-282x20130123","type":"journal-article","created":{"date-parts":[[2014,1,16]],"date-time":"2014-01-16T17:03:05Z","timestamp":1389891785000},"page":"788-790","source":"Crossref","is-referenced-by-count":19,"title":["Familial adult spinal muscular atrophy associated with the VAPB gene: report of 42 cases in Brazil"],"prefix":"10.1590","volume":"71","author":[{"given":"Victor","family":"Kosac","sequence":"first","affiliation":[{"name":"Federal Fluminense University,  Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marcos R. G. de","family":"Freitas","sequence":"additional","affiliation":[{"name":"Federal Fluminense University,  Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frederico M.","family":"Prado","sequence":"additional","affiliation":[{"name":"Federal Fluminense University,  Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Osvaldo J. M.","family":"Nascimento","sequence":"additional","affiliation":[{"name":"Federal Fluminense University,  Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caroline","family":"Bittar","sequence":"additional","affiliation":[{"name":"Federal Fluminense University,  Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"530","reference":[{"key":"ref1","doi-asserted-by":"crossref","first-page":"822","DOI":"10.1086\/425287","article-title":"A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis","volume":"75","author":"Nishimura AL","year":"2004","journal-title":"Am J Hum Genet"},{"key":"ref2","doi-asserted-by":"crossref","first-page":"499","DOI":"10.1007\/s00439-005-0031-y","article-title":"A common founder for amyotrophic lateral sclerosis type 8 (ALS8) in the Brazilian population","volume":"118","author":"Nishimura AL","year":"2005","journal-title":"Hum Genet"},{"key":"ref3","author":"Rotta FT","year":"2006"},{"key":"ref4","doi-asserted-by":"crossref","first-page":"302","DOI":"10.1111\/j.1399-0004.2009.01319.x","article-title":"The p.P56S mutation in the VAPB gene is not due to a single founder: the first European case","volume":"77","author":"Funke AD","year":"2010","journal-title":"Clin Genet"},{"key":"ref5","doi-asserted-by":"crossref","first-page":"554","DOI":"10.1136\/jmg.2010.077180","article-title":"SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis genotype-phenotype correlations","volume":"47","author":"Millecamps S","year":"2010","journal-title":"J Med Genet"},{"key":"ref6","doi-asserted-by":"crossref","first-page":"933","DOI":"10.1086\/426001","article-title":"Complex genetics of amyotrophic lateral sclerosis","volume":"75","author":"Kunst CB","year":"2004","journal-title":"Am J Hum Genet"},{"key":"ref7","first-page":"40266","article-title":"Characterization of the properties of a novel mutation in VAPB in familial amyotrophic lateral sclerosis","volume":"285","author":"Chen HJ","year":"2010","journal-title":"J Neurochem"},{"key":"ref8","doi-asserted-by":"crossref","first-page":"3642","DOI":"10.1093\/hmg\/ddr284","article-title":"Downregulation of VAPB expression in motor neurons derived from induced pluripotent stem cells of ALS8 patients","volume":"20","author":"Mitne-Neto M","year":"2011","journal-title":"Hum Mol Genet"},{"key":"ref9","doi-asserted-by":"crossref","first-page":"1099","DOI":"10.1111\/j.1471-4159.2011.07491.x","article-title":"Amyotrophic lateral sclerosis-linked mutant VAPB enhances TDP-43-induced motor neuronal toxicity","volume":"119","author":"Suzuki H","year":"2011","journal-title":"J Neurochem"},{"key":"ref10","doi-asserted-by":"crossref","first-page":"286","DOI":"10.1111\/j.1471-4159.2011.07201.x","article-title":"The ALS8-associated mutant VAPB(P56S) is resistant to proteolysis in neurons","volume":"117","author":"Gkogkas C","year":"2011","journal-title":"J Neurochem"},{"key":"ref11","doi-asserted-by":"crossref","first-page":"e26066","DOI":"10.1371\/journal.pone.0026066","article-title":"Accumulation of wildtype and ALS-linked mutated VAPB impairs activity of the proteasome","volume":"6","author":"Moumen A","year":"2011","journal-title":"PLoS One"},{"key":"ref12","first-page":"e1","article-title":"VAPB and C9orf72 mutations in 1 familial amyotrophic lateral sclerosis patient","volume":"33","author":"Van Blitterswijka M","year":"2012","journal-title":"Neurobiol Aging"}],"container-title":["Arquivos de Neuro-Psiquiatria"],"original-title":[],"link":[{"URL":"http:\/\/www.scielo.br\/pdf\/anp\/v71n10\/0004-282X-anp-71-10-0788.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2017,5,27]],"date-time":"2017-05-27T16:40:20Z","timestamp":1495903220000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.scielo.br\/scielo.php?script=sci_arttext&pid=S0004-282X2013001100788&lng=en&tlng=en"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,10]]},"references-count":12,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2013,10]]}},"alternative-id":["S0004-282X2013001100788"],"URL":"https:\/\/doi.org\/10.1590\/0004-282x20130123","relation":{},"ISSN":["0004-282X"],"issn-type":[{"value":"0004-282X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,10]]}}}