Familial adult spinal muscular atrophy associated with the VAPB gene: Report of 42 cases in Brazil;Atrofia espinhal progressiva familiar associada ao gene VAPB: Relato de 42 casos no Brasil

Arquivos de Neuro-Psiquiatria

Volumn 71, Issue 10, 2013, Pages 788-790

  Kosac, Victor ^a   de Freitas, Marcos R G ^a   Prado, Frederico M ^a   Nascimento, Osvaldo J M ^a   Bittar, Caroline ^a  

^a FLUMINENSE FEDERAL UNIVERSITY   (Brazil)

Author keywords

Familial spinal muscular atrophy; Genetics; VAPB gene

Indexed keywords

ARTICLE; BRAIN ELECTROPHYSIOLOGY; BRAZIL; CLINICAL ARTICLE; ELECTROMYOGRAPHY; FAMILY HISTORY; FASCICULATION; GENE; GENE MUTATION; GENETIC SCREENING; HEREDITARY SPINAL MUSCULAR ATROPHY; HUMAN; MOTOR NERVE CONDUCTION; MUSCLE ACTION POTENTIAL; MUSCLE ATROPHY; VESICLE ASSOCIATED MEMBRANE PROTEIN ASSOCIATED PROTEIN B GENE; WEAKNESS;

ADULT; AGE OF ONSET; BRAZIL; ELECTROMYOGRAPHY; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; MIDDLE AGED; MUSCLE WEAKNESS; MUSCULAR ATROPHY, SPINAL; MUTATION; PEDIGREE; VESICULAR TRANSPORT PROTEINS;

EID: 84887205946     PISSN: 0004282X     EISSN: 16784227     Source Type: Journal    
DOI: 10.1590/0004-282X20130123     Document Type: Article

References (12)

1. Nishimura AL, Mitne-Neto M, Silva HC, et al. A mutation in the vesicletrafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis. Am J Hum Genet 2004;75:822-831.
2. Nishimura AL, Al-Chalabi A, Zatz M. A common founder for amyotrophic lateral sclerosis type 8 (ALS8) in the Brazilian population. Hum Genet 2005;118:499-500.
3. Rotta FT, Chieia MAT, Berto MC et al. XVII International Symposium on ALS/MND.2006 http://abrela.beesoft.com.br/PDF/japao.pdf (accessed 27 September 2012).
4. Funke AD, Esser M, Krüttgen A, et al. The p. P56S mutation in the VAPB gene is not due to a single founder: the first European case. Clin Genet 2010;77:302-303.
5. Millecamps S, Salachas F, Cazeneuve C, et al. SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis genotype-phenotype correlations. J Med Genet 2010;47:554-560.
6. Kunst CB. Complex genetics of amyotrophic lateral sclerosis. Am J Hum Genet 2004;75:933-947.
7. Chen HJ, Anagnostou G, Chai A, et al. Characterization of the properties of a novel mutation in VAPB in familial amyotrophic lateral sclerosis. J Neurochem 2010;285:40266-40281.
8. Mitne-Neto M, Machado-Costa M, Marchetto MC, et al. Downregulation of VAPB expression in motor neurons derived from induced pluripotent stem cells of ALS8 patients. Hum Mol Genet 2011;20:3642-3652.
9. Suzuki H, Matsuoka M. Amyotrophic lateral sclerosis-linked mutant VAPB enhances TDP-43-induced motor neuronal toxicity. J Neurochem 2011;119:1099-1107.
10. Gkogkas C, Wardrope C, Hannah M, Skehel P. The ALS8-associated mutant VAPB(P56S) is resistant to proteolysis in neurons. J Neurochem 2011;117:286-294.
11. Moumen A, Virard I, Raoul C. Accumulation of wildtype and ALSlinked mutated VAPB impairs activity of the proteasome. PLoS One 2011;6:e26066.
12. Van Blitterswijka M, van Esa MA, Koppersa M, et al. VAPB and C9orf72 mutations in 1 familial amyotrophic lateral sclerosis patient. Neurobiol Aging 2012;33:e1-04.