Martin Paucar Arce

Martin Paucar Arce

Affiliated to Research
Visiting address: BioClinicum J5:20, Akademiska stråket 1, KS, 17164 Stockholm
Postal address: K8 Klinisk neurovetenskap, K8 Neuro Svenningsson Paucar, 171 77 Stockholm
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About me

  • I am a neurologist at the Karolinska University Hospital, my main areas of interest are movement disorders. My main areas of research are hyperkinesias and genetics, we provide care to patients affected by Huntington’s disease, ataxias and related disorders. Related disorders in this context mean familial spastic paraplegias. There is an important overlay between ataxias and spastic paraplegias. The care we provide for patients affected by these conditions is multidisciplinary.  In 2017, I defended a thesis on neurogenetics in which we described the first families in Sweden affected by a rare condition called spinocerebellar ataxia type 4 (SCA4). This thesis paved the way to the discovery of the underlying gene mutation causing SCA4 by our group in October 2023 (Spinocerebellar ataxia type 4 is caused by a GGC expansion in the ZFHX3 gene and is associated with prominent dysautonomia and motor neuron signs | medRxiv). Soon after other groups confirmed our findings on SCA4. During my time as a postdoctoral fellow, we have made contributions to the field e.g. by identifying a gene modifier for spinocerebellar ataxia type 3 (SCA3) and have provided functional evidence for several pathogenic variants associated with ataxia disorders.  Over the years, we have built up cooperation networks with other researchers in the area.  

Research

    • We are broadening our search for novel, hopefully specific, biomarkers for the most common familial ataxia disease namely SCA3. A similar approach will be applied for other ataxia syndromes associated with nucleotide expansions such as SCA4, spinocerebellar ataxia type 2 (SCA2), fragile X-tremor ataxia syndrome (FXTAS), Friedreich’s ataxia and cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS). We expand our search for gene modifiers for those conditions; and characterize local cohorts affected by CANVAS, FXTAS and familial spastic paraplegias.  
    • Recently we have discovered another genetic ataxia disease linked to chromosome X. We attempt to model using cell cultures and organoids. 
    • In cooperation with other groups, we are searching for novel biomarkers for Huntington’s disease (HD) and characterize the differential diagnosis of HD.  

Teaching

  • I am a regular lecturer at neurological conferences at home and abroad, at the Karolinska University Hospital and in courses for PhD and master students at the Karolinska Institutet. 

Articles

All other publications

  • Preprint: MEDRXIV. 2025
    Wincent J; Zhang S; Nolan A; Nordin F; Kvarnung M; Uhlén P; Paucar M; Eidhof I
  • Editorial: NEUROLOGY-GENETICS. 2025;11(1):e200238
    Verrecchia L; Alm V; Thonberg H; Lenner F; Paivandy A; Feuk L; Lindstrand A; Nilsson D; Paucar M
  • Letter: MOVEMENT DISORDERS. 2024;39(6):1077
    Paucar M; Nilsson D; Engvall M; Laffita-Mesa J; Wedell A; Svenningsson P
  • Editorial: JOURNAL OF THE NEUROLOGICAL SCIENCES. 2024;460:123020
    Sennfalt S; Gustavsson P; Malmgren H; Gilland E; Almqvist H; Oscarson M; Engvall M; Bjorkhem I; Nilsson D; Lagerstedt-Robinson K; Svenningsson P; Paucar M
  • Editorial: NEUROLOGY-GENETICS. 2023;9(6):e200100
    Ben-Shabat I; Kvarnung M; Sperker W; Bruhn H; Wredenberg A; Wibom R; Nennesmo I; Engvall M; Paucar M
  • Preprint: MEDRXIV. 2023
    Paucar M; Nilsson D; Engvall M; Laffita-Mesa J; Söderhäll C; Skorpil M; Halldin C; Fazio P; Lagerstedt-Robinson K; Solders G; Angeria M; Varrone A; Risling M; Jiao H; Nennesmo I; Wedell A; Svenningsson P
  • Editorial: NEURAL REGENERATION RESEARCH. 2022;17(11):2445-2447
    Laffita-Mesa JM; Paucar M; Svenningsson P
  • Editorial: NEUROLOGY-GENETICS. 2022;8(3):e668
    van der Put J; Daugeliene D; Bergendal A; Kvarnung M; Svenningsson P; Paucar M
  • Editorial: NEUROLOGY-GENETICS. 2021;7(6):e636
    Thams S; Paucar M; Wingard L; Thonberg H; Smith C; Nennesmo I; Svenningsson P
  • Conference publication: JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY. 2021;92:A14
    Korpela S; Sundblom J; Zetterberg H; Constantinescu R; Svenningsson P; Arce MP; Niemela V
  • Review: CURRENT OPINION IN NEUROLOGY. 2021;34(4):578-588
    Laffita-Mesa JM; Paucar M; Svenningsson P
  • Corrigendum: NEUROLOGY-GENETICS. 2021;7(2):e567
    Paucar M; Agren R; Li T; Lissmats S; Bergendal A; Weinberg J; Nilsson D; Savichetva I; Sahlholm K; Nilsson J; Svenningsson P
  • Conference publication: MOLECULAR GENETICS AND METABOLISM. 2021;132(2):S90
    Raiman JAJ; Sharma R; Paucar M; Staretz-Chacham O; Spiegel R; Boyd A; Hastings C; Hrynkow SH
  • Editorial: ANNALS OF NEUROLOGY. 2021;89(2):418-419
    Paucar M; Almqvist H; Bjorkhem I; Svenningsson P
  • Editorial: NEUROLOGY-GENETICS. 2020;6(4):e474
    Paucar M; Granberg T; Lagerstedt-Robinson K; Waldenlind E; Petersson S; Nordin L; Svenningsson P
  • Preprint: BIORXIV. 2020
    Bieder A; Einarsdottir E; Matsson H; Nilsson H; Eisfeldt J; Dragomir A; Paucar M; Granberg T; Li T-Q; Lindstrand A; Kere J; Tapia-Páez I
  • Review: TREMOR AND OTHER HYPERKINETIC MOVEMENTS. 2019;9
    Paucar M; Taylor AMR; Hadjivassiliou M; Fogel BL; Svenningsson P
  • Letter: PARKINSONISM & RELATED DISORDERS. 2019;62:253-255
    Paucar M; Schechtmann G; Taylor AMR; Svenningsson P
  • Editorial: NEUROLOGY. 2019;92(6):e622-e625
    af Edholm K; Lidman C; Andersson S; Solders G; Paucar M
  • Editorial: NEUROLOGY. 2018;91(15):710-712
    Paucar M; Pajak A; Freyer C; Bergendal A; Dory M; Laffita-Mesa JM; Stranneheim H; Lagerstedt-Robinson K; Savitcheva I; Walker RH; Wedell A; Wredenberg A; Svenningsson P
  • Review: CURRENT NEUROLOGY AND NEUROSCIENCE REPORTS. 2018;18(12):85
    Fazio P; Paucar M; Svenningsson P; Varrone A
  • Letter: JOURNAL OF THE NEUROLOGICAL SCIENCES. 2017;375:245-247
    Paucar M; Almqvist H; Jelic V; Hagman G; Jorneskog G; Holmin S; Bjorkhem I; Svenningsson P
  • Other: CEREBELLUM AND ATAXIAS. 2017;4:5
    Kmezic I; Weinberg J; Hauzenberger D; Hashim F; Kollia E; Klimkowska M; Nennesmo I; Paucar M
  • Conference publication: JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY. 2016;87:A78-A79
    Paucar M; Pajak A; Freyer C; Stranneheim H; Wedell A; Wredenberg A; Svenningsson P
  • Other: MOVEMENT DISORDERS CLINICAL PRACTICE. 2016;3(2):194-196
    Paucar M; Beniaminov S; Solders G; Svenningsson P
  • Editorial: NEUROLOGY. 2015;85(19):e143-e144
    Paucar M; Lindestad P-A; Walker RH; Svenningsson P
  • Other: MOVEMENT DISORDERS CLINICAL PRACTICE. 2015;2(1):90-92
    Paucar M; Alonso I; Eriksson M; Beniaminov S; Coutinho P; Svenningsson P
  • Conference publication: JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY. 2012;83:A19
    Paucar M; Winnberg E; Walker RH; Svenningsson P
  • Letter: JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY. 2011;82(12):1409-1412
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Grants

  • Region Stockholm
    Region Stockholm
    1 January 2024 - 31 December 2024
  • Studies on SCA3
    1 January 2024 - 31 January 2025
  • Studies on ataxia diseases
    The Promobilia Foundation
    1 January 2022 - 31 December 2023
  • Post doc studies
    Region Stockholm
    1 January 2021 - 31 December 2023

Employments

  • Affiliated to Research, Department of Clinical Neuroscience, Karolinska Institutet, 2023-2026

Degrees and Education

  • Degree Of Doctor Of Philosophy, Department of Clinical Neuroscience, Karolinska Institutet, 2017
  • University Medical Degree, Karolinska Institutet, 2005

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