Martin Paucar Arce
Affiliated to Research
E-mail: martin.paucar.arce@ki.se
Visiting address: BioClinicum J5:20, Akademiska stråket 1, KS, 17164 Stockholm
Postal address: K8 Klinisk neurovetenskap, K8 Neuro Svenningsson Paucar, 171 77 Stockholm
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
- Article: JOURNAL OF INTERNAL MEDICINE. 2024;296(3):234-248
- Journal article: ENEUROLOGICALSCI. 2024;35:100497
- Article: JOURNAL OF THE NEUROLOGICAL SCIENCES. 2024;459:122979
- Article: HELIYON. 2024;10(4):e26073
- Journal article: FRONTIERS IN NEUROSCIENCE. 2024;18:1408105
- Journal article: FRONTIERS IN NEUROSCIENCE. 2024;18:1409366
- Article: NEUROLOGY: GENETICS. 2023;9(6):e200100
- Article: TOXICS. 2023;11(12):959
- Article: MOLECULAR GENETICS AND METABOLISM REPORTS. 2023;36:100988
- Article: JOURNAL OF THE NEUROLOGICAL SCIENCES. 2023;451:120707
- Article: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES. 2023;24(13):10924
- Article: FRONTIERS IN NEUROLOGY. 2023;14:1170005
- Article: GENETICS IN MEDICINE. 2022;24(11):2296-2307
- Article: JOURNAL OF NEUROVIROLOGY. 2021;27(2):345-347
- Article: NEUROLOGY. 2021;96(9):e1369-e1382
- Article: NEUROGENETICS. 2021;22(1):71-79
- Article: MOVEMENT DISORDERS. 2021;36(2):481-491
- Article: MOVEMENT DISORDERS. 2021;36(2):508-514
- Article: NEUROLOGY: GENETICS. 2021;7(1):e546
- Article: NEUROLOGY: GENETICS. 2020;6(6):e526
- Article: PARKINSONISM AND RELATED DISORDERS. 2020;79:135-137
- Article: JOURNAL OF INTERNAL MEDICINE. 2020;288(1):103-115
- Article: NEUROLOGY: GENETICS. 2020;6(3):e426
- Article: LAKARTIDNINGEN. 2020;117:FX4L
- Article: BMC MEDICAL GENETICS. 2020;21(1):87
- Article: MOVEMENT DISORDERS. 2020;35(4):606-615
- Article: LAKARTIDNINGEN. 2020;117:FU7H
- Article: LAKARTIDNINGEN. 2020;117:FX4F
- Article: NEUROLOGY: GENETICS. 2019;5(4):e344
- Article: AMERICAN JOURNAL OF MEDICAL GENETICS, PART B: NEUROPSYCHIATRIC GENETICS. 2019;180(3):232-245
- Article: CEREBELLUM AND ATAXIAS. 2019;6:9
- Article: PARKINSONISM AND RELATED DISORDERS. 2018;:S1353-8020(18)30399-7
- Article: CEREBELLUM. 2018;17(4):465-476
- Article: NEUROLOGY: GENETICS. 2018;4(4):e259
- Article: BLOOD CELLS, MOLECULES, AND DISEASES. 2018;68:86-92
- Article: FRONTIERS IN GENETICS. 2018;9:317
- Article: BRAIN. 2017;140(12):3112-3127
- Article: TREMOR AND OTHER HYPERKINETIC MOVEMENTS. 2017;7:529
- Article: PLOS ONE. 2017;12(5):e0173565
- Article: CEREBELLUM. 2016;15(5):636-640
- Article: CEREBELLUM. 2016;15(5):632-635
- Article: AMERICAN JOURNAL OF HUMAN GENETICS. 2016;99(3):735-743
- Article: NEUROLOGY: GENETICS. 2016;2(4):e84
- Article: JOURNAL OF NEUROLOGY. 2016;263(4):703-706
- Article: NEUROLOGY: GENETICS. 2016;2(1):e49
- Article: NATURE GENETICS. 2015;47(6):579-581
- Article: ARCHIVUM IMMUNOLOGIAE ET THERAPIAE EXPERIMENTALIS. 2015;63(1):65-71
- Article: JOURNAL OF LIPID RESEARCH. 2014;55(2):313-318
- Article: PRION. 2013;7(6):501-510
- Article: JOURNAL OF AFFECTIVE DISORDERS. 2013;151(1):248-258
- Article: NATURE GENETICS. 2013;45(9):1077-1082
- Article: NEUROGENETICS. 2013;14(1):11-22
- Article: PLOS ONE. 2013;8(8):e70560
- Article: JAMA NEUROLOGY. 2013;70(1):25-33
- Article: PLOS ONE. 2013;8(7):e68951
- Article: JIMD REPORTS. 2012;3:53-57
- Article: EUROPEAN JOURNAL OF HUMAN GENETICS. 2012;20(1):20-26
- Article: JOURNAL OF NEUROVIROLOGY. 2002;8(4):353-357
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All other publications
- Letter: MOVEMENT DISORDERS. 2024;39(6):1077
- Editorial comment: JOURNAL OF THE NEUROLOGICAL SCIENCES. 2024;460:123020
- Editorial comment: NEURAL REGENERATION RESEARCH. 2022;17(11):2445-2447
- Editorial comment: NEUROLOGY: GENETICS. 2022;8(3):e668
- Editorial comment: NEUROLOGY: GENETICS. 2021;7(6):e636
- Editorial comment: NEUROLOGY: GENETICS. 2021;7(6):e628
- Conference publication: JOURNAL OF NEUROLOGY, NEUROSURGERY AND PSYCHIATRY. 2021;92:A14
- Review: CURRENT OPINION IN NEUROLOGY. 2021;34(4):578-588
- Corrigendum: NEUROLOGY: GENETICS. 2021;7(2):e567
- Editorial comment: ANNALS OF NEUROLOGY. 2021;89(2):418-419
- Editorial comment: NEUROLOGY: GENETICS. 2020;6(4):e474
- Letter: PARKINSONISM AND RELATED DISORDERS. 2019;62:253-255
- Editorial comment: NEUROLOGY. 2019;92(6):e622-e625
- Review: TREMOR AND OTHER HYPERKINETIC MOVEMENTS. 2019;9
- Editorial comment: NEUROLOGY. 2018;91(15):710-712
- Review: CURRENT NEUROLOGY AND NEUROSCIENCE REPORTS. 2018;18(12):85
- Letter: JOURNAL OF THE NEUROLOGICAL SCIENCES. 2017;375:245-247
- Other: CEREBELLUM AND ATAXIAS. 2017;4:5
- Other: MOVEMENT DISORDERS CLINICAL PRACTICE. 2016;3(2):194-196
- Editorial comment: NEUROLOGY. 2015;85(19):e143-e144
- Other: MOVEMENT DISORDERS CLINICAL PRACTICE. 2015;2(1):90-92
- Letter: JOURNAL OF NEUROLOGY, NEUROSURGERY AND PSYCHIATRY. 2011;82(12):1409-1412
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Grants
- Studies on SCA31 January 2024 - 31 January 2025
- Region StockholmRegion Stockholm1 January 2024 - 31 December 2024
- Studies on ataxia diseasesThe Promobilia Foundation1 January 2022 - 31 December 2023
- Post doc studiesRegion Stockholm1 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