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Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration Volume 20, 2019 - Issue 3-4
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Research Article

Facial onset sensory and motor neuronopathy: a motor neuron disease with an oligogenic origin?

Juan Francisco Vázquez-CostaInstituto de Investigación Sanitaria la Fe (IIS La Fe), Neuromuscular Research Unit, Valencia, Spain, ;Department of Neurology, ALS Unit, Hospital Universitario y Politécnico La Fe, Valencia, Spain, ;Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Valencia, Spain, Correspondence[email protected]
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,
Laia Pedrola VidalInstituto de Investigación Sanitaria La Fe, Genomic Unit, Valencia, Spain, View further author information
,
Sarah Moreau-Le LanInstituto de Investigación Sanitaria La Fe, Genomic Unit, Valencia, Spain, View further author information
,
Irene Teresí-CopovíDepartment of Neurophysiology, ALS Unit, Hospital Universitario y Politécnico La Fe, Valencia, Spain, View further author information
,
Marina FrasquetInstituto de Investigación Sanitaria la Fe (IIS La Fe), Neuromuscular Research Unit, Valencia, Spain, ;Department of Neurology, ALS Unit, Hospital Universitario y Politécnico La Fe, Valencia, Spain, ;Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Valencia, Spain, View further author information
,
Maria J. ChumillasInstituto de Investigación Sanitaria la Fe (IIS La Fe), Neuromuscular Research Unit, Valencia, Spain, ;Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Valencia, Spain, ;Department of Neurophysiology, ALS Unit, Hospital Universitario y Politécnico La Fe, Valencia, Spain, View further author information
&
Teresa SevillaInstituto de Investigación Sanitaria la Fe (IIS La Fe), Neuromuscular Research Unit, Valencia, Spain, ;Department of Neurology, ALS Unit, Hospital Universitario y Politécnico La Fe, Valencia, Spain, ;Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Valencia, Spain, ;Department of Medicine, University of Valencia, Valencia, SpainView further author information
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Pages 172-175 | Received 04 Dec 2018, Accepted 03 Feb 2019, Published online: 20 Mar 2019

References

  • Broad R, Leigh PN. Recognising facial onset sensory motor neuronopathy syndrome: insight from six new cases. Pract Neurol. 2015;15:293–7.
  • Dalla Bella E, Rigamonti A, Mantero V, Morbin M, Saccucci S, Gellera C, et al. Heterozygous D90A-SOD1 mutation in a patient with facial onset sensory motor neuronopathy (FOSMN) syndrome: a bridge to amyotrophic lateral sclerosis. J Neurol Neurosurg Psychiatry. 2014;85:1–3.
  • Sonoda K, Sasaki K, Tateishi T, Yamasaki R, Hayashi S, Sakae N, et al. TAR DNA-binding protein 43 pathology in a case clinically diagnosed with facial-onset sensory and motor neuronopathy syndrome: an autopsied case report and a review of the literature. J Neurol Sci. 2013;332:148–53.
  • Vucic S, Stein TD, Hedley-Whyte ET, Reddel SR, Tisch S, Kotschet K, et al. FOSMN syndrome: novel insight into disease pathophysiology. Neurology. 2012;79:73–9.
  • Mora JS, Salas T, Fernández MC, Rodríguez-Castillo V, Marín S, Chaverri D, et al. Spanish adaptation of the edinburgh cognitive and behavioral amyotrophic lateral sclerosis screen (ECAS). Amyotroph Lateral Scler Frontotemporal Degener. 2018;19:74–9.
  • Custodio N, Lira D, Herrera-Perez E, Montesinos R, Castro-Suarez S, Cuenca-Alfaro J, et al. Memory alteration test to detect amnestic mild cognitive impairment and early Alzheimer’s dementia in population with low educational level. Front Aging Neurosci. 2017;9:278.
  • Vázquez-Costa JF, Mazón M, Carreres-Polo J, Hervás D, Pérez-Tur J, Martí-Bonmatí L, et al. Brain signal intensity changes as biomarkers in amyotrophic lateral sclerosis. Acta Neurol Scand. 2018;137:262–71.
  • Zheng Q, Chu L, Tan L, Zhang H. Facial onset sensory and motor neuronopathy. Neurol Sci. 2016;37:1905–9.
  • Barritt A, Elamin M, Anderson S, Broad R, Nisbet A, Leigh N. Cognitive impairment in facial onset sensory and motor neuronopathy (FOSMN). In: European Network to Cure ALS (ENCALS) meeting, Oxford, UK, 20–22 June 2018. https://www.researchgate.net/publication/325972393_Cognitive_Impairment_in_Facial_Onset_Sensory_and_Motor_Neuronopathy_FOSMN
  • Al-Chalabi A, van den Berg LH, Veldink J. Gene discovery in amyotrophic lateral sclerosis: implications for clinical management. Nat Rev Neurol. 2017;13:96–104.
  • Felbecker A, Camu W, Valdmanis PN, Sperfeld A-D, Waibel S, Steinbach P, et al. Four familial ALS pedigrees discordant for two SOD1 mutations: are all SOD1 mutations pathogenic? J Neurol Neurosurg Psychiatry. 2010;81:572–7.
  • Chiò A, Mazzini L, D'Alfonso S, Corrado L, Canosa A, Moglia C, et al. The multistep hypothesis of ALS revisited: The role of genetic mutations. Neurology. 2018;91:e635–42.
  • Kwok CT, Morris A, De Belleroche JS. Sequestosome-1 (SQSTM1) sequence variants in ALS cases in the UK: prevalence and coexistence of SQSTM1 mutations in ALS kindred with PDB. Eur J Hum Genet. 2014;22:492–6.
  • Dols-Icardo O, García-Redondo A, Rojas-García R, Borrego-Hernández D, Illán-Gala I, Muñoz-Blanco JL, et al. Analysis of known amyotrophic lateral sclerosis and frontotemporal dementia genes reveals a substantial genetic burden in patients manifesting both diseases not carrying the C9orf72 expansion mutation. J Neurol Neurosurg Psychiatry. 2018;89:162–8.
  • Lee Y, Jonson PH, Sarparanta J, Palmio J, Sarkar M, Vihola A, et al. TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations. J Clin Invest. 2018;128:1164–77.
  • Ziso B, Williams TL, Walters RJL, Jaiser SR, Attems J, Wieshmann UC, et al. Facial onset sensory and motor neuronopathy: further evidence for a TDP-43 proteinopathy. Case Rep Neurol. 2015;7:95–100.

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