{"entity": "researcher", "timestamp": "2026-07-20T13:46:05.930Z", "family": "Paucar", "given": "Martin", "initials": "M", "orcid": "0000-0003-3735-1480", "affiliations": ["Department of Clinical Neuroscience (S.T., T.G., M.P.), Karolinska Institutet; Department of Neurology (S.T., M.P.), Karolinska University Hospital; Department of Neurophysiology (M.I.), Karolinska University Hospital; Department of Pediatric Neurology (M.L.), Astrid Lindgren's Hospital; Department of Clinical Genetics (A.N., B.T., G.B.), Karolinska University Hospital; Department of Molecular Medicine and Surgery (A.N., B.T., G.B., D.N.), Karolinska Institutet; and Department of Neuroradiology (T.G.), Karolinska University Hospital, Stockholm, Sweden."], "links": {"self": {"href": "https://publications.scilifelab.se/researcher/bbc592904eb5402ea48a624471d4b939.json"}, "display": {"href": "https://publications.scilifelab.se/researcher/bbc592904eb5402ea48a624471d4b939"}}, "publications": [{"entity": "publication", "iuid": "859055d5fe394252bb2808f0d2a3394e", "links": {"self": {"href": "https://publications.scilifelab.se/publication/859055d5fe394252bb2808f0d2a3394e.json"}, "display": {"href": "https://publications.scilifelab.se/publication/859055d5fe394252bb2808f0d2a3394e"}}, "title": "ATP1A3 dysfunction causes motor hyperexcitability and afterhyperpolarization loss in a dystonia model.", "authors": [{"family": "Akkuratov", "given": "Evgeny E", "initials": "EE"}, {"family": "Sorrell", "given": "Francesca", "initials": "F"}, {"family": "Picton", "given": "Laurence D", "initials": "LD"}, {"family": "Sousa", "given": "Vasco C", "initials": "VC"}, {"family": "Paucar", "given": "Martin", "initials": "M", "orcid": "0000-0003-3735-1480", "researcher": {"href": "https://publications.scilifelab.se/researcher/bbc592904eb5402ea48a624471d4b939.json"}}, {"family": "Jans", "given": "Daniel", "initials": "D", "orcid": "0000-0002-6356-9742", "researcher": {"href": "https://publications.scilifelab.se/researcher/fe197a6a51a946a7a6c01f4c9c6cce08.json"}}, {"family": "Svensson", "given": "Lill-Britt", "initials": "LB"}, {"family": "Lindskog", "given": "Maria", "initials": "M", "orcid": "0000-0001-9484-1983", "researcher": {"href": "https://publications.scilifelab.se/researcher/1592b4e2f1354bdd8b35f384dcac78c2.json"}}, {"family": "Fritz", "given": "Nicolas", "initials": "N", "orcid": "0000-0002-9722-7425", "researcher": {"href": "https://publications.scilifelab.se/researcher/ec61383c813443f29dea569ea935b284.json"}}, {"family": "Liebmann", "given": "Thomas", "initials": "T"}, {"family": "Sillar", "given": "Keith T", "initials": "KT"}, {"family": "Rosewich", "given": "Hendrik", "initials": "H", "orcid": "0000-0003-4692-5511", "researcher": {"href": "https://publications.scilifelab.se/researcher/fffad5ec5d2d48a78573e71d7ba3c2dd.json"}}, {"family": "Svenningsson", "given": "Per", "initials": "P", "orcid": "0000-0001-6727-3802", "researcher": {"href": "https://publications.scilifelab.se/researcher/5199496295334771ba3c5621a83a6f43.json"}}, {"family": "Brismar", "given": "Hjalmar", "initials": "H", "orcid": "0000-0003-0578-4003", "researcher": {"href": "https://publications.scilifelab.se/researcher/1ec23336e2ef4e298f340876f1136dce.json"}}, {"family": "Miles", "given": "Gareth B", "initials": "GB"}, {"family": "Aperia", "given": "Anita", "initials": "A"}], "type": "journal article", "published": "2025-04-03", "journal": {"title": "Brain", "issn": "1460-2156", "volume": "148", "issue": "4", "pages": "1099-1105", "issn-l": "0006-8950"}, "abstract": "Mutations in the gene encoding the alpha3 Na+/K+-ATPase isoform (ATP1A3) lead to movement disorders that manifest with dystonia, a common neurological symptom with many different origins, but for which the underlying molecular mechanisms remain poorly understood. We have generated an ATP1A3 mutant mouse that displays motor impairments and a hyperexcitable motor phenotype compatible with dystonia. We show that neurons harbouring this mutation are compromised in their ability to extrude raised levels of intracellular sodium, highlighting a profound deficit in neuronal sodium homeostasis. We show that the spinal motor network in ATP1A3 mutant mice has a reduced responsiveness to activity-dependent rises in intracellular sodium and that this is accompanied by loss of the Na+/K+-ATPase-mediated afterhyperpolarization in motor neurons. Taken together, our data support that the alpha3 Na+/K+-ATPase is important for cellular and spinal motor network homeostasis. These insights suggest that it may be useful to consider ways to compensate for this loss of a critical afterhyperpolarization-dependent control of neuronal excitability when developing future therapies for dystonia.", "doi": "10.1093/brain/awae373", "pmid": "39533828", "labels": {"Integrated Microscopy Technologies Stockholm": "Service"}, "xrefs": [{"db": "pmc", "key": "PMC11967811"}, {"db": "pii", "key": "7896743"}], "notes": [], "created": "2024-11-18T09:02:43.236Z", "modified": "2025-11-12T11:33:48.972Z"}, {"entity": "publication", "iuid": "34c5c2bee8b840eb96262212b3a6964d", "links": {"self": {"href": "https://publications.scilifelab.se/publication/34c5c2bee8b840eb96262212b3a6964d.json"}, "display": {"href": "https://publications.scilifelab.se/publication/34c5c2bee8b840eb96262212b3a6964d"}}, "title": "Acute Vestibular Syndrome Unmasking an RFC1-Spectrum Disorder.", "authors": [{"family": "Verrecchia", "given": "Luca", "initials": "L"}, {"family": "Alm", "given": "Victor", "initials": "V", "orcid": "0009-0004-0429-5237", "researcher": {"href": "https://publications.scilifelab.se/researcher/5b7df01bf278424a87b30de0c6306751.json"}}, {"family": "Thonberg", "given": "H\u00e5kan", "initials": "H", "orcid": "0000-0003-4503-4717", "researcher": {"href": "https://publications.scilifelab.se/researcher/481958db26a2433ea8d5cc786c3b2bca.json"}}, {"family": "Lenner", "given": "Felix", "initials": "F", "orcid": "0000-0002-9594-0710", "researcher": {"href": "https://publications.scilifelab.se/researcher/075ac1709d46441ebd03420bf9c080e7.json"}}, {"family": "Paivandy", "given": "Aida", "initials": "A"}, {"family": "Feuk", "given": "Lars", "initials": "L"}, {"family": "Lindstrand", "given": "Anna", "initials": "A", "orcid": "0000-0003-0806-5602", "researcher": {"href": "https://publications.scilifelab.se/researcher/07f3e6152da043d38c7a81974fcf8c23.json"}}, {"family": "Nilsson", "given": "Daniel", "initials": "D"}, {"family": "Paucar", "given": "Martin", "initials": "M", "orcid": "0000-0003-3735-1480", "researcher": {"href": "https://publications.scilifelab.se/researcher/bbc592904eb5402ea48a624471d4b939.json"}}], "type": "journal article", "published": "2025-02-00", "journal": {"title": "Neurol Genet", "issn": "2376-7839", "volume": "11", "issue": "1", "pages": "e200238", "issn-l": "2376-7839"}, "abstract": "Since the discovery of biallelic pentanucleotide expansions in RFC1 as the cause of cerebellar ataxia, neuropathy, vestibular areflexia syndrome, a wide and growing clinical spectrum has emerged. In this article, we report a man with acute vestibular syndrome that likely unmasked a RFC1-spectrum disorder.\n\nDetailed clinical evaluation, neuroimaging, nerve conduction studies, evaluation of vestibular function, and short-read whole-genome sequencing and targeted long-read adaptive sequencing were performed.\n\nClinical follow-up after acute vestibular syndrome revealed bilateral vestibular areflexia and a gait abnormality with the Scale for the Assessment and Rating of Ataxia score of 5. Brain MRI was normal while 2 electroneurography tests did not show neuropathy. However, severe cough spells raised the suspicion of a RFC1-spectrum disorder. WGS screening detected a recessive intronic pentanucleotide expansion in RFC1, which was verified and sized using long-read adaptive sequencing.\n\nThis is an unusual presentation; oscillopsia after an acute vestibular syndrome and cough spells should alert clinicians about a RFC1-spectrum disorder, even in the absence of neuropathy and neuroradiologic abnormalities.", "doi": "10.1212/NXG.0000000000200238", "pmid": "39839074", "labels": {"Clinical Genomics Stockholm": "Service", "Clinical Genomics": "Service", "Bioinformatics Support for Computational Resources": "Service"}, "xrefs": [{"db": "pmc", "key": "PMC11748027"}, {"db": "pii", "key": "NXG-2024-100195D"}], "notes": [], "created": "2025-11-18T20:47:50.741Z", "modified": "2025-11-28T10:53:37.894Z"}, {"entity": "publication", "iuid": "ad68a32317274c03aa068006b44d02b9", "links": {"self": {"href": "https://publications.scilifelab.se/publication/ad68a32317274c03aa068006b44d02b9.json"}, "display": {"href": "https://publications.scilifelab.se/publication/ad68a32317274c03aa068006b44d02b9"}}, "title": "Ataxia Syndrome With Hearing Loss and Nephronophthisis Associated With a Novel Homozygous Variant in XPNPEP3.", "authors": [{"family": "Ben-Shabat", "given": "Ilan", "initials": "I", "orcid": "0000-0003-2211-7528", "researcher": {"href": "https://publications.scilifelab.se/researcher/f19650307eff4a4691585bdef569c414.json"}}, {"family": "Kvarnung", "given": "Malin", "initials": "M", "orcid": "0000-0003-0193-0165", "researcher": {"href": "https://publications.scilifelab.se/researcher/77c2ad2b3e1442f5937aded8e129994a.json"}}, {"family": "Sperker", "given": "Wolfgang", "initials": "W", "orcid": "0000-0002-5351-9418", "researcher": {"href": "https://publications.scilifelab.se/researcher/f4aa72d100f6463e9b3327bab3fbd239.json"}}, {"family": "Bruhn", "given": "Helene", "initials": "H"}, {"family": "Wredenberg", "given": "Anna", "initials": "A", "orcid": "0000-0002-2500-6121", "researcher": {"href": "https://publications.scilifelab.se/researcher/3ea9ee7305424cdb8c238ef569e5be03.json"}}, {"family": "Wibom", "given": "Rolf", "initials": "R", "orcid": "0000-0001-6721-4642", "researcher": {"href": "https://publications.scilifelab.se/researcher/c7d5fc666ef84a8784d8b28ecf233146.json"}}, {"family": "Nennesmo", "given": "Inger", "initials": "I", "orcid": "0009-0000-0871-1147", "researcher": {"href": "https://publications.scilifelab.se/researcher/7422a07a064648a5a1dfed8a9889503b.json"}}, {"family": "Engvall", "given": "Martin", "initials": "M"}, {"family": "Paucar", "given": "Martin", "initials": "M", "orcid": "0000-0003-3735-1480", "researcher": {"href": "https://publications.scilifelab.se/researcher/bbc592904eb5402ea48a624471d4b939.json"}}], "type": "journal article", "published": "2023-12-00", "journal": {"title": "Neurol Genet", "issn": "2376-7839", "volume": "9", "issue": "6", "pages": "e200100", "issn-l": "2376-7839"}, "abstract": "Biallelic variants in XPNPEP3 are associated with a rare mitochondrial syndrome characterized by nephronophthisis leading to kidney failure, essential tremor, hearing loss, seizures, and intellectual disability. Only 2 publications on this condition are available. We report a man with a complex ataxia syndrome, hearing loss, and kidney failure associated with a new biallelic variant in XPNPEP3.\n\nClinical evaluation, neuroimaging studies, a kidney biopsy, and whole genome sequencing (WGS) were applied. Since the phenotype was compatible with a mitochondrial disease, a muscle biopsy with morphological and mitochondrial biochemical investigations was performed.\n\nAxial ataxia, cerebellar atrophy, hearing loss, myopathy, ptosis, supranuclear palsy, and kidney failure because of nephronophthisis were the prominent features in this case. WGS revealed the novel biallelic variant c.766C>T (p.Gln256*) in XPNPEP3. A muscle biopsy revealed COX negative fibers, a few ragged red fibers, and ultrastructural mitochondrial changes. Enzyme activity in respiratory chain complex IV was reduced in muscle and fibroblasts.\n\nThis is the first report of a slowly progressive cerebellar ataxia associated with a novel biallelic variant in XPNPEP3. Abnormalities typical for mitochondrial disease and the slow progression of kidney disease are also striking. Our report expands the spectrum of XPNPEP3-related diseases.", "doi": "10.1212/NXG.0000000000200100", "pmid": "38035175", "labels": {"Clinical Genomics Stockholm": "Service", "Clinical Genomics": "Service"}, "xrefs": [{"db": "pmc", "key": "PMC10684053"}, {"db": "pii", "key": "NXG-2023-000165"}], "notes": [], "created": "2024-11-21T10:09:19.210Z", "modified": "2024-11-21T10:28:20.978Z"}, {"entity": "publication", "iuid": "7314485325a6426d9d9a4add5c54715a", "links": {"self": {"href": "https://publications.scilifelab.se/publication/7314485325a6426d9d9a4add5c54715a.json"}, "display": {"href": "https://publications.scilifelab.se/publication/7314485325a6426d9d9a4add5c54715a"}}, "title": "Heterozygous variants in DCC: Beyond congenital mirror movements.", "authors": [{"family": "Thams", "given": "Sebastian", "initials": "S"}, {"family": "Islam", "given": "Mominul", "initials": "M"}, {"family": "Lindefeldt", "given": "Marie", "initials": "M"}, {"family": "Nordgren", "given": "Ann", "initials": "A"}, {"family": "Granberg", "given": "Tobias", "initials": "T"}, {"family": "Tesi", "given": "Bianca", "initials": "B"}, {"family": "Barbany", "given": "Gisela", "initials": "G"}, {"family": "Nilsson", "given": "Daniel", "initials": "D"}, {"family": "Paucar", "given": "Martin", "initials": "M", "orcid": "0000-0003-3735-1480", "researcher": {"href": "https://publications.scilifelab.se/researcher/bbc592904eb5402ea48a624471d4b939.json"}}], "type": "journal article", "published": "2020-12-00", "journal": {"title": "Neurol Genet", "issn": "2376-7839", "volume": "6", "issue": "6", "pages": "e526", "issn-l": "2376-7839"}, "abstract": "To perform a comprehensive characterization of a cohort of patients with congenital mirror movements (CMMs) in Sweden.\n\nClinical examination with the Woods and Teuber scale for mirror movements (MMs), neuroimaging, navigated transcranial magnetic stimulation (nTMS), and massive parallel sequencing (MPS) were applied.\n\nThe cohort is ethnically diverse and includes a total of 7 patients distributed in 2 families and 2 sporadic cases. The degree of MMs was variable in this cohort. MPS revealed 2 novel heterozygous frameshift variants in DCC netrin 1 receptor (DCC). Two siblings harboring the pathogenic variant in c.1466_1476del display a complex syndrome featuring MMs and in 1 case receptive-expressive language disorder, chorea, epilepsy, and agenesis of the corpus callosum. The second DCC variant, c.1729delG, was associated with a typical benign CMM phenotype. No variants in DCC, NTN1, RAD51, or DNAL4 were found for the 2 sporadic CMM cases. However, one of these sporadic cases had concomitant high-risk myelodysplastic syndrome and a homozygous variant in ERCC excision repair like 2 (ERCC6L2). Reorganized corticospinal projection patterns to upper extremities were demonstrated with nTMS.\n\nThe presence of chorea expands the clinical spectrum of syndromes associated with variants in DCC. Biallelic pathogenic variants in ERCC6L2 cause bone marrow failure, but a potential association with CMM remains to be studied in larger cohorts.", "doi": "10.1212/NXG.0000000000000526", "pmid": "33209984", "labels": {"Clinical Genomics Stockholm": "Service", "Clinical Genomics": "Service"}, "xrefs": [{"db": "pii", "key": "NG2020013177"}, {"db": "pmc", "key": "PMC7670573"}], "notes": [], "created": "2021-11-20T12:19:31.452Z", "modified": "2021-11-20T12:19:31.511Z"}]}