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Profesionales

Lucía Schottlaender

Formación

Médica egresada de la Universidad Austral.

Especialización

Especialista en Neurología, completó su residencia en FLENI, Buenos Aires, Argentina.
Realizó su doctorado en Neurogenética en UCL, University College y luego un fellow en enfermedades neuromusculares en el Dubowitz neuromuscular Centre, Londres, Reino Unido.

Antecedentes

Clinical research associate, Department of Molecular Neuroscience, Institute of Neurology, UCL and The National Hospital for Neurology and Neurosurgery, Queen Square, London, UK. 2011-2018.
Clinical research associate, Dubowitz neuromuscular centre, Great Ormond Street Institute of Child Health, UCL and Great Ormond Street Hospital for Children, London, UK. 2015-2018.
Honorary clinical research fellow, Great Ormond Street Institute of Child Health and Department of Neuromuscular disorders, Institute of Neurology, UCL, London, UK. 2018-Actual.
Médica de guardia. Hospital Solidario COVID Austral. Junio-Diciembre 2020.
Médica de planta de Neurología. Clínica especializada de neurogenética. Hospital Universitario Austral. Enero 2021-Actual.

Docencia

Docencia e Investigación:

Investigadora asistente del CONICET, Argentina. Lugar de trabajo: FLENI. Marzo 2020-Marzo 2021. IIMT (Instituto de Investigaciones en medicina traslacional) Universidad Austral. Marzo 2021-Actual. Principal interés. Enfermedades poco frecuentes neurogenéticas, neurodegenerativas, neuromusculares, movimientos anormales.

Actividades de referato para múltiples revistas internacionales indexadas, supervisión de estudiantes de doctorado, dicta cursos y seminarios en reuniones científicas periódicamente. Fue disertante invitada en múltiples reuniones nacionales e internacionales.

Jefa de trabajos prácticos. Cátedra de Genética, Facultad de Ciencias Biomédicas, Universidad Austral. Septiembre 2020-Actual.

Publicaciones

  1. Wadman RI, De Amicis R, Brusa C, Battezzati A, Bertoli S, Davis T, et al. Feeding difficulties in children and adolescents with spinal muscular atrophy type 2. Neuromuscul Disord NMD. 2021 Feb;31(2):101–12.
  2. Sokratous M, Lucia S, Bourinaris T, Marogianni C, Arnaoutoglou M, Patrikiou E, et al. Prevalence of C9orf72 hexanucleotide repeat expansion in Greek patients with sporadic ALS. Amyotroph Lateral Scler Front Degener. 2020 Aug;21(5–6):470–2.
  3. Schottlaender LV, Abeti R, Jaunmuktane Z, Macmillan C, Chelban V, O’Callaghan B, et al. Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification. Am J Hum Genet. 2020 05;106(3):412–21.
  4. Chelban V, Carecchio M, Rea G, Bowirrat A, Kirmani S, Magistrelli L, et al. MYORG-related disease is associated with central pontine calcifications and atypical parkinsonism. Neurol Genet. 2020 Apr;6(2):e399.
  5. Perez-Rodriguez D, Kalyva M, Leija-Salazar M, Lashley T, Tarabichi M, Chelban V, et al. Investigation of somatic CNVs in brains of synucleinopathy cases using targeted SNCA analysis and single cell sequencing. Acta Neuropathol Commun. 2019 23;7(1):219.
  6. Pihlstrøm L, Schottlaender L, Chelban V, Houlden H, MSA Exome Consortium. LRP10 in α-synucleinopathies. Lancet Neurol. 2018 Dec;17(12):1033–4.
  7. Chelban V, Vichayanrat E, Schottlaende L, Iodice V, Houlden H. Autonomic dysfunction in genetic forms of synucleinopathies. Mov Disord Off J Mov Disord Soc. 2018 Mar;33(3):359–71.
  8. Pihlstrøm L, Schottlaender L, Chelban V, MSA Exome Consortium, Meissner WG, Federoff M, et al. Lysosomal storage disorder gene variants in multiple system atrophy. Brain J Neurol. 2018 May 7;
  9. Batla A, Tai XY, Schottlaender L, Erro R, Balint B, Bhatia KP. Deconstructing Fahr’s disease/syndrome of brain calcification in the era of new genes. Parkinsonism Relat Disord. 2017;37:1–10.
  10. Selikhova M, Fedotova E, Wiethoff S, Schottlaender LV, Klyushnikov S, Illarioshkin SN, et al. A 30-year history of MPAN case from Russia. Clin Neurol Neurosurg. 2017 Aug;159:111–3.
  11. Finkel RS, Mercuri E, Darras BT, Connolly AM, Kuntz NL, Kirschner J, et al. Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy. N Engl J Med. 2017 02;377(18):1723–32.
  12. Sailer A, Scholz SW, Nalls MA, Schulte C, Federoff M, Price TR, et al. A genome-wide association study in multiple system atrophy. Neurology. 2016 Oct 11;87(15):1591–8.
  13. Chelban V, Manole A, Pihlstrøm L, Schottlaender L, Efthymiou S, OConnor E, et al. Analysis of the prion protein gene in multiple system atrophy. Neurobiol Aging. 2016 Oct 3;
  14. Kara E, Tucci A, Manzoni C, Lynch DS, Elpidorou M, Bettencourt C, et al. Genetic and phenotypic characterization of complex hereditary spastic paraplegia. Brain J Neurol. 2016 Jul;139(Pt 7):1904–18.
  15. Schottlaender LV, Bettencourt C, Kiely AP, Chalasani A, Neergheen V, Holton JL, et al. Coenzyme Q10 Levels Are Decreased in the Cerebellum of Multiple-System Atrophy Patients. PloS One. 2016;11(2):e0149557.
  16. Gami P, Murray C, Schottlaender L, Bettencourt C, De Pablo Fernandez E, Mudanohwo E, et al. A 30-unit hexanucleotide repeat expansion in C9orf72 induces pathological lesions with dipeptide-repeat proteins and RNA foci, but not TDP-43 inclusions and clinical disease. Acta Neuropathol (Berl). 2015 Oct;130(4):599–601.
  17. Schottlaender LV, Polke JM, Ling H, MacDoanld ND, Tucci A, Nanji T, et al. Analysis of C9orf72 repeat expansions in a large series of clinically and pathologically diagnosed cases with atypical parkinsonism. Neurobiol Aging. 2015 Feb;36(2):1221.e1-6.
  18. Federoff M, Schottlaender LV, Houlden H, Singleton A. Multiple system atrophy: the application of genetics in understanding etiology. Clin Auton Res Off J Clin Auton Res Soc. 2015 Feb;25(1):19–36.
  19. Schottlaender LV, Petzold A, Wood N, Houlden H. Diagnostic clues and manifesting carriers in fukutin-related protein (FKRP) limb-girdle muscular dystrophy. J Neurol Sci. 2015 Jan 15;348(1–2):266–8.
  20. Heckman MG, Schottlaender L, Soto-Ortolaza AI, Diehl NN, Rayaprolu S, Ogaki K, et al. LRRK2 exonic variants and risk of multiple system atrophy. Neurology. 2014 Nov 5;
  21. Schottlaender LV, Holton JL, Houlden H. Multiple system atrophy and repeat expansions in c9orf72. JAMA Neurol. 2014 Sep 1;71(9):1190–1.
  22. Schottlaender LV, Houlden H, Multiple-System Atrophy (MSA) Brain Bank Collaboration. Mutant COQ2 in multiple-system atrophy. N Engl J Med. 2014 Jul 3;371(1):81.
  23. Berardo A, Schottlaender L, Leiguarda R, Houlden H, Reisin R. Nueva mutación en SPG11 en una paciente con paraplejía espástica hereditaria complicada: hallazgos clínicos-electrofisiológicos y moleculares. Neurol Argent. 2014 Jul;6(3):155–9.
  24. Schottlaender LV, Correale J, Ameriso SF, Moschini JA, Crivelli L, Meli F, et al. White matter relapsing remitting disease: “Susac’s syndrome”—An underdiagnosed entity. Mult Scler Relat Disord. 2013 Oct 1;2(4):349–54.
  25. Guerreiro R, Kara E, Le Ber I, Bras J, Rohrer JD, Taipa R, et al. Genetic analysis of inherited leukodystrophies: genotype-phenotype correlations in the CSF1R gene. JAMA Neurol. 2013 Jul;70(7):875–82.
  26. Fawcett K, Mehrabian M, Liu Y-T, Hamed S, Elahi E, Revesz T, et al. The frequency of spinocerebellar ataxia type 23 in a UK population. J Neurol. 2013 Mar;260(3):856–9.
  27. Hammer MB, Eleuch-Fayache G, Schottlaender LV, Nehdi H, Gibbs JR, Arepalli SK, et al. Mutations in GBA2 cause autosomal-recessive cerebellar ataxia with spasticity. Am J Hum Genet. 2013 Feb 7;92(2):245–51.
  28. Mok KY, Koutsis G, Schottlaender LV, Polke J, Panas M, Houlden H. High frequency of the expanded C9ORF72 hexanucleotide repeat in familial and sporadic Greek ALS patients. Neurobiol Aging. 2012 Aug;33(8):1851.e1-5.
  29. Fugate JE, Ameriso SF, Ortiz G, Schottlaender LV, Wijdicks EFM, Flemming KD, et al. Variable presentations of postpartum angiopathy. Stroke J Cereb Circ. 2012 Mar;43(3):670–6.

Capítulos de libros

Schottlaender, LV, Sailer, A, Ahmed, Z, Dickson, D, Houlden, H, Ross, OA. Chapter 9: Multiple System Atrophy (MSA): clinical, genetics and neuropathology. In: Neurodegeneration. Neurodegeneration. Eds. Schapira T., Wszolek Z, Dawson T & Wood N. Publ.Wiley; 2015.

Tratado de Neurología Clínica. Capítulo: Grandes avances en genética molecular están llegando al consultorio de neurología. Lucia V Schottlaender, Conceição Bettencourt. Editores: Federico E. Micheli Martín A. Nogués Jorge J. Asconapé Manuel María Fernández Pardal José Biller. Editorial Médica Panamericana. En prensa.

Otros

European Academy of Neurology congress 2018, Lisboa Portugal. Primer premio en la competencia de presentaciones orales: “Tournament for Young neurologists”.

Elsevier poster prize. Congreso World Muscle Society 2018, Mendoza, Argentina.

Queen Square symposium, Londres, UK. Postgraduate poster competition. Finalista 2017.

International Scholarship Award American Academy of Neurology 2015, Washington, USA.

Acreditado por Joint Commission InternationalOAAMiembro de la Red Global de Hospitales Verdes y Saludables