Chantal Marie Elisabeth Tallaksen

• Oender, Demet; Faber, Jennifer; Wilke, Carlo; Schaprian, Tamara; Lakghomi, Asadeh & Mengel, David [Show all 28 contributors for this article] (2023). Evolution of Clinical Outcome Measures and Biomarkers in Sporadic Adult-Onset Degenerative Ataxia. Movement Disorders. ISSN 0885-3185. p. 654–664. doi: 10.1002/mds.29324. Full text in Research Archive
• Roux, Thomas; Barbier, Mathieu; Papin, Mélanie; Davoine, Claire-Sophie; Sayah, Sabrina & Coarelli, Giulia [Show all 87 contributors for this article] (2020). Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment. Genetics in Medicine. ISSN 1098-3600. 22(11), p. 1851–1862. doi: 10.1038/s41436-020-0899-x.
• Prestsæter, Sjur; Koht, Jeanette; Lamari, Foudil; Tallaksen, Chantal; Hoven, Stian Tobias Juel & Vigeland, Magnus Dehli [Show all 8 contributors for this article] (2020). Elevated hydroxycholesterols in Norwegian patients with hereditary spastic paraplegia SPG5. Journal of the Neurological Sciences. ISSN 0022-510X. 419:117211, p. 1–4. doi: 10.1016/j.jns.2020.117211. Show summary

  Spastic paraplegia type 5 (SPG5/HSP-CYP7B1) is an autosomal recessive hereditary spastic paraplegia (HSP) caused by biallelic variants in the CYP7B1 gene, resulting in dysfunction of the enzyme oxysterol-7-α-hydroxylase. The consequent accumulation of hydroxycholesterols in plasma seems to be pathognomonic for SPG5, and represent a possible target for treatment. We aimed to characterize Norwegian patients with SPG5, including clinical examinations, genetic analyses, measurements of hydroxycholesterols, electrophysiological investigations and brain imaging. Five unrelated patients carried presumed disease-causing variants in CYP7B1, three of the variants were novel. Four patients presented with pure HSP, one with complex HSP. The three tested patients all had markedly increased levels of 25- and 27-hydroxycholesterol in plasma. Our results suggest that the clinical examination is still the best approach to classify disease severity in patients with SPG5. Plasma hydroxycholesterols were elevated, thus presenting as potentially valuable diagnostic biomarkers, in particular in patients where genetic analyses are inconclusive. Keywords: CYP7B1; Hereditary spastic paraplegia; Hydroxycholesterols; Oxysterols; SPG5.

• Hikmat, Omar; Vederhus, Bente Johanne; Benestad, Merete Røineland; Engeset, Ida Malén Eun; Klingenberg, Claus & Rasmussen, Magnhild [Show all 10 contributors for this article] (2020). Mental health and health related quality of life in mitochondrial POLG disease. Mitochondrion (Amsterdam. Print). ISSN 1567-7249. 55, p. 95–99. doi: 10.1016/j.mito.2020.09.005. Full text in Research Archive Show summary

  We aimed to assess the impact of POLG disease on mental health and quality of life in 15 patients using the Symptom Checklist-90-R (SCL-90-R) and Short-Form 36 Health Survey (RAND-36). We found increased scores in all nine subscales of SCL-90-R, particularly phobic anxiety, depression and somatization. Further, patients reported considerably lower scores in all RAND-36 domains. This study revealed a global decline in mental health and poor quality of life in patients with POLG disease and highlights the need for increased awareness and systematic assessment in order to improve their quality of life and mental health.

• Hikmat, Omar; Naess, Karin; Engvall, Martin; Klingenberg, Claus; Rasmussen, Magnhild & Tallaksen, Chantal [Show all 16 contributors for this article] (2020). The impact of gender, puberty, and pregnancy in patients with POLG disease. Annals of clinical and translational neurology. ISSN 2328-9503. 7(10), p. 2019–2025. doi: 10.1002/acn3.51199. Full text in Research Archive Show summary

  Objective: To study the impact of gender, puberty, and pregnancy on the expression of POLG disease, one of the most common mitochondrial diseases known. Methods: Clinical, laboratory, and genetic data were collected retrospectively from 155 patients with genetically confirmed POLG disease recruited from seven European countries. We used the available data to study the impact of gender, puberty, and pregnancy on disease onset and deterioration. Results: We found that disease onset early in life was common in both sexes but there was also a second peak in females around the time of puberty. Further, pregnancy had a negative impact with 10 of 14 women (71%) experiencing disease onset or deterioration during pregnancy. Interpretation: Gender clearly influences the expression of POLG disease. While onset very early in life was common in both males and females, puberty in females appeared associated both with disease onset and increased disease activity. Further, both disease onset and deterioration, including seizure aggravation and status epilepticus, appeared to be associated with pregnancy. Thus, whereas disease activity appears maximal early in life with no subsequent peaks in males, both menarche and pregnancy appear associated with disease onset or worsening in females. This suggests that hormonal changes may be a modulating factor.

• Hikmat, Omar; Naess, Karin; Engvall, Martin; Klingenberg, Claus; Rasmussen, Magnhild & Tallaksen, Chantal [Show all 15 contributors for this article] (2020). Simplifying the clinical classification of polymerase gamma (POLG) disease based on age of onset; studies using a cohort of 155 cases. The Journal of Inherited Metabolic Disease (JIMD). ISSN 0141-8955. 43(4), p. 726–736. doi: 10.1002/jimd.12211. Full text in Research Archive Show summary

  Background Variants in POLG are one of the most common causes of inherited mitochondrial disease. Phenotypic classification of POLG disease has evolved haphazardly making it complicated and difficult to implement in everyday clinical practise. The aim of our study was to simplify the classification and facilitate better clinical recognition. Methods A multinational, retrospective study using data from 155 patients with POLG variants recruited from seven European countries. Results We describe the spectrum of clinical features associated with POLG variants in the largest known cohort of patients. While clinical features clearly form a continuum, stratifying patients simply according to age of onset—onset prior to age 12 years; onset between 12 and 40 years and onset after the age of 40 years, permitted us to identify clear phenotypic and prognostic differences. Prior to 12 years of age, liver involvement (87%), seizures (84%), and feeding difficulties (84%) were the major features. For those with onset between 12 and 40 years, ataxia (90%), peripheral neuropathy (84%), and seizures (71%) predominated, while for those with onset over 40 years, ptosis (95%), progressive external ophthalmoplegia (89%), and ataxia (58%) were the major clinical features. The earlier the onset the worse the prognosis. Patients with epilepsy and those with compound heterozygous variants carried significantly worse prognosis. Conclusion Based on our data, we propose a simplified POLG disease classification, which can be used to guide diagnostic investigations and predict disease course.

• Lipka, Alexander F.; Boldingh, Marion; van Zwet, Erik W.; Schreurs, Marco W.J; Kuks, Jan B.M. & Tallaksen, Chantal [Show all 8 contributors for this article] (2019). Long‐term follow‐up, quality of life, and survival of patients with Lambert‐Eaton myasthenic syndrome. Neurology. ISSN 0028-3878. 94(5), p. e511–e520. doi: 10.1212/WNL.0000000000008747.
• Stenshorne, Ida; Rasmussen, Magnhild; Salvanos, Panagiotis; Tallaksen, Chantal; Bindoff, Laurence & Koht, Jeanette (2019). Fever-related ataxia: A case report of CAPOS syndrome. Cerebellum & ataxias. ISSN 2053-8871. 6:2, p. 1–5. doi: 10.1186/s40673-019-0096-3. Full text in Research Archive
• Rydning, Siri Lynne; Koht, Jeanette; Sheng, Ying; Sowa, Piotr; Hjorthaug, Hanne Sagsveen & Wedding, Iselin Marie [Show all 12 contributors for this article] (2019). Biallelic POLR3A variants confirmed as a frequent cause of hereditary ataxia and spastic paraparesis. Brain. ISSN 0006-8950. 142:e12(4), p. 1–5. doi: 10.1093/brain/awz041. Full text in Research Archive
• Parodi, Livia; Fenu, Silvia; Barbier, Mathieu; Banneau, Guillaume; Duyckaerts, Charles & du Montcel, Sophie Tezenas [Show all 15 contributors for this article] (2018). Spastic paraplegia due to SPAST mutations is modified by the underlying mutation and sex. Brain. ISSN 0006-8950. 141(12), p. 3331–3342. doi: 10.1093/brain/awy285.
• Sjaastad, Ottar; Blau, Nenad; Rydning, Siri Lynne; Peters, Verena; Rødningen, Olaug Kristin & Stray-Pedersen, Asbjørg [Show all 9 contributors for this article] (2018). Homocarnosinosis: A historical update and findings in the SPG11 gene. Acta Neurologica Scandinavica. ISSN 0001-6314. 138(3), p. 245–250. doi: 10.1111/ane.12949.
• Hikmat, Omar; Naess, Karin; Engvall, Martin; Klingenberg, Claus; Rasmussen, Magnhild & Tallaksen, Chantal [Show all 13 contributors for this article] (2018). Elevated cerebrospinal fluid protein in POLG-related epilepsy: Diagnostic and prognostic implications. Epilepsia. ISSN 0013-9580. 59(8), p. 1595–1602. doi: 10.1111/epi.14459.
• Arntzen, Kjell Arne; Høyer, Helle; Ørstavik, Kristin; Tallaksen, Chantal; Vedeler, Christian A. & Østern, Rune André Helland [Show all 9 contributors for this article] (2018). Charcot-Marie-Tooth disease type 4C in Norway: Clinical characteristics, mutation spectrum and minimum prevalence. Neuromuscular Disorders. ISSN 0960-8966. 28(8), p. 639–645. doi: 10.1016/j.nmd.2018.06.004.
• Rydning, Siri Lynne; Dudesek, Ales; Rimmele, Florian; Funke, Claudia; Krüger, Stefanie & Biskup, Saskia [Show all 12 contributors for this article] (2018). A novel heterozygous variant in ERLIN2 causes autosomal dominant pure hereditary spastic paraplegia. European Journal of Neurology. ISSN 1351-5101. 25(7), p. 943–948. doi: 10.1111/ene.13625.
• Coutelier, Marie; Hammer, Monia B.; Stevanin, Giovanni; Monin, Marie-Lorraine; Davoine, Claire-Sophie & Mochel, Fanny [Show all 35 contributors for this article] (2018). Efficacy of exome-targeted capture sequencing to detect mutations in known cerebellar ataxia genes. JAMA Neurology. ISSN 2168-6149. 75(5), p. 591–599. doi: 10.1001/jamaneurol.2017.5121.
• Giordano, Ilaria; Harmuth, Florian; Jacobi, Heike; Paap, Brigitte; Vielhaber, Stefan & MacHts, Judith [Show all 28 contributors for this article] (2017). Clinical and genetic characteristics of sporadic adult-onset degenerative ataxia. Neurology. ISSN 0028-3878. 89(10), p. 1043–1049. doi: 10.1212/WNL.0000000000004311.
• Hikmat, Omar; Tzoulis, Charalampos; Klingenberg, Claus; Rasmussen, Magnhild; Tallaksen, Chantal & Brodtkorb, Eylert [Show all 10 contributors for this article] (2017). The presence of anaemia negatively influences survival in patients with POLG disease. The Journal of Inherited Metabolic Disease (JIMD). ISSN 0141-8955. 40(6), p. 861–866. doi: 10.1007/s10545-017-0084-9.
• Boldingh, Marion; Maniaol, Angelina; Brunborg, Cathrine; Dekker, Luuk; Lipka, Alexander F. & Niks, Erik Harmen [Show all 8 contributors for this article] (2017). Prevalence and clinical aspects of immigrants with myasthenia gravis in northern Europe. Muscle and Nerve. ISSN 0148-639X. 55(6), p. 819–827. doi: 10.1002/mus.25408.
• Iqbal, Zafar; Rydning, Siri Lynne; Wedding, Iselin Marie; Koht, Jeanette; Pihlstrøm, Lasse & Rengmark, Aina Sylvia Haugen [Show all 9 contributors for this article] (2017). Targeted high throughput sequencing in hereditary ataxia and spastic paraplegia. PLOS ONE. ISSN 1932-6203. 12:e0174667(3), p. 1–19. doi: 10.1371/journal.pone.0174667. Full text in Research Archive
• Rydning, Siri Lynne; Backe, Paul Hoff; Sousa, Mirta; Iqbal, Zafar; Øye, Ane-Marte & Sheng, Ying [Show all 14 contributors for this article] (2017). Novel UCHL1 mutations reveal new insights into ubiquitin processing. Human Molecular Genetics. ISSN 0964-6906. 26(6), p. 1031–1040. doi: 10.1093/hmg/ddw391. Full text in Research Archive
• Paap, Brigitte K.; Roeske, Sandra; Durr, Alexandra; Schöls, Ludger; Ashizawa, Tetsuo & Boesch, Sylvia [Show all 19 contributors for this article] (2016). Standardized Assessment of Hereditary Ataxia Patients in Clinical Studies. Movement Disorders Clinical Practice. ISSN 2330-1619. 3(3), p. 230–240. doi: 10.1002/mdc3.12315.
• Koht, Jeanette; Løstegaard, Sven Olav; Wedding, Iselin Marie; Vidailhet, Marie; Louha, Malek & Tallaksen, Chantal (2016). Benign hereditary chorea, not only chorea: a family case presentation. Cerebellum & ataxias. ISSN 2053-8871. 3. doi: 10.1186/s40673-016-0041-7.
• Boldingh, Marion; Maniaol, Angelina; Brunborg, Cathrine; Weedon-Fekjær, Harald; Verschuuren, Jan J. G. M & Tallaksen, Chantal (2016). Increased risk for clinical onset of myasthenia gravis during the postpartum period. Neurology. ISSN 0028-3878. 87(20), p. 2139–2145. doi: 10.1212/WNL.0000000000003339.
• Horn, Morten Andreas; Müller, Karin Brigitte; Ferdinandusse, Sacha; Jørum, Ellen; Mellgren, Svein Ivar & Retterstøl, Lars [Show all 8 contributors for this article] (2016). Mild phenotype in an adult male with X‐linked adrenoleukodystrophy – case report. Clinical Case Reports. ISSN 2050-0904. 4(2), p. 177–181. doi: 10.1002/ccr3.434. Full text in Research Archive
• Simonsen, Cecilia Smith; Celius, Elisabeth Gulowsen; Brunborg, Cathrine; Tallaksen, Chantal; Eriksen, Erik Fink & Holmøy, Trygve [Show all 7 contributors for this article] (2016). Bone mineral density in patients with multiple sclerosis, hereditary ataxia or hereditary spastic paraplegia after at least 10 years of disease - a case control study. BMC Neurology. ISSN 1471-2377. 16. doi: 10.1186/s12883-016-0771-4.
• Stergiou, Christos; Lazaridis, Konstantinos; Zouvelou, Vasiliki; Tzartos, John; Mantegazza, Renato & Antozzi, Carlo [Show all 39 contributors for this article] (2016). Titin antibodies in "seronegative" myasthenia gravis - A new role for an old antigen. Journal of Neuroimmunology. ISSN 0165-5728. 292, p. 108–115. doi: 10.1016/j.jneuroim.2016.01.018.
• Rydning, Siri Lynne; Wedding, Iselin Marie; Koht, Jeanette; Chawla, Maninder Singh; Øye, Ane-Marte & Sheng, Ying [Show all 9 contributors for this article] (2016). A founder mutation p.H701P identified as a major cause of SPG7 in Norway. European Journal of Neurology. ISSN 1351-5101. 23(4), p. 763–771. doi: 10.1111/ene.12937. Full text in Research Archive Show summary

  Background and purpose: SPG7 is one of the most common forms of autosomal recessive hereditary spastic paraplegia. The phenotype has been shown to be heterogeneous, varying from a complex spastic ataxia to pure spastic paraplegia or pure ataxia. The aim of this study was to clinically and genetically characterize patients with SPG7 in Norway. Methods: Six Norwegian families with a clinical diagnosis of hereditary spastic paraplegia were diagnosed with SPG7 through Sanger sequencing and whole-exome sequencing. Haplotypes were established to identify a possible founder mutation. All patients were thoroughly examined and the clinical and molecular findings are described. Results: The core phenotype was spastic paraparesis with ataxia, bladder disturbances and progressive external ophthalmoplegia. The variant p.H701P was identified in homozygous state in one family and in compound heterozygous state in three families. Haplotype analysis of seven surrounding single nucleotide polymorphisms supports that this variant resides on a founder haplotype. Four of the families were compound heterozygous for the previously well-described p.A510V variant. Conclusion: SPG7 is a common subgroup of hereditary spinocerebellar disorders in Norway. The broad phenotype in the Norwegian SPG7 population illustrates the challenges with the traditional dichotomous classification of hereditary spinocerebellar disorders into hereditary spastic paraplegia or hereditary ataxia. A Norwegian founder mutation p.H701P was identified in four out of six families, making it a major cause of SPG7 in Norway.

• Monin, Marie-Lorraine; Tezenas du Montcel, Sophie; Marelli, Cecilia; Cazeneuve, Cecile; Charles, Perrine & Tallaksen, Chantal Marie Elisabeth [Show all 10 contributors for this article] (2015). Survival and severity in dominant cerebellar ataxias. Annals of clinical and translational neurology. ISSN 2328-9503. 2(2), p. 202–207. doi: 10.1002/acn3.156.
• Coutelier, Marie; Goizet, Cyril; Durr, Alexandra; Habarou, Florence; Morais, Sara & Dionne-Laporte, Alexandre [Show all 34 contributors for this article] (2015). Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia. Brain. ISSN 0006-8950. 138(8), p. 2191–2205. doi: 10.1093/brain/awv143.
• Boldingh, Marion Ingeborg; Maniaol, Angelina; Brunborg, Cathrine; Dekker, Luuk; Heldal, Anne Taraldsen & Lipka, Alexander F. [Show all 10 contributors for this article] (2015). Geographical distribution of myasthenia gravis in Northern Europe - Results from a population-based study from two countries. Neuroepidemiology. ISSN 0251-5350. 44(4), p. 221–231. doi: 10.1159/000431036.
• Wedding, Iselin Marie; Kroken, Mette; Henriksen, Sandra Pilar; Selmer, Kaja Kristine; Fiskerstrand, Torunn & Knappskog, Per [Show all 8 contributors for this article] (2015). Friedreich ataxia in Norway - An epidemiological, molecular and clinical study. Orphanet Journal of Rare Diseases. ISSN 1750-1172. 10(1), p. 1–17. doi: 10.1186/s13023-015-0328-4. Full text in Research Archive Show summary

  BACKGROUND: Friedreich ataxia is an autosomal recessive hereditary spinocerebellar disorder, characterized by progressive limb and gait ataxia due to proprioceptive loss, often complicated by cardiomyopathy, diabetes and skeletal deformities. Friedreich ataxia is the most common hereditary ataxia, with a reported prevalence of 1:20 000 - 1:50 000 in Central Europe. Previous reports from south Norway have found a prevalence varying from 1:100 000 - 1:1 350 000; no studies are previously done in the rest of the country. METHODS: In this cross-sectional study, Friedreich ataxia patients were identified through colleagues in neurological, pediatric and genetic departments, hospital archives searches, patients' associations, and National Centre for Rare Disorders. All included patients, carriers and controls were investigated clinically and molecularly with genotype characterization including size determination of GAA repeat expansions and frataxin measurements. 1376 healthy blood donors were tested for GAA repeat expansion for carrier frequency analysis. RESULTS: Twenty-nine Friedreich ataxia patients were identified in Norway, of which 23 were ethnic Norwegian, corresponding to a prevalence of 1:176 000 and 1:191 000, respectively. The highest prevalence was seen in the north. Carrier frequency of 1:196 (95 % CI = [1:752-1:112]) was found. Homozygous GAA repeat expansions in the FXN gene were found in 27/29, while two patients were compound heterozygous with c.467 T < C, L157P and the deletion (g.120032_122808del) including exon 5a. Two additional patients were heterozygous for GAA repeat expansions only. Significant differences in the level of frataxin were found between the included patients (N = 27), carriers (N = 37) and controls (N = 27). CONCLUSIONS: In this first thorough study of a complete national cohort of Friedreich ataxia patients, and first nation-wide study of Friedreich ataxia in Norway, the prevalence of Friedreich ataxia in Norway is lower than in Central Europe, but higher than in the last Norwegian report, and as expected from migration studies. A south-north prevalence gradient is present. Based on Hardy Weinberg's equilibrium, the carrier frequency of 1:196 is consistent with the observed prevalence. All genotypes, and typical and atypical phenotypes were present in the Norwegian population. The patients were phenotypically similar to European cohorts. Frataxin was useful in the diagnostic work-up of heterozygous symptomatic cases.

• Boldingh, Marion Ingeborg; Dekker, Luuk; Maniaol, Angelina; Brunborg, Cathrine; Lipka, Alexander F. & Niks, Erik H. [Show all 8 contributors for this article] (2015). An up-date on health-related quality of life in myasthenia gravis -results from population based cohorts. Health and Quality of Life Outcomes. ISSN 1477-7525. 13:115. doi: 10.1186/s12955-015-0298-1.
• Tsonis, Anastasios I.; Zisimopoulou, Paraskevi; Lazaridis, Konstantinos N.; Tzartos, John; Matsigkou, Eirini & Zouvelou, Vasiliki [Show all 37 contributors for this article] (2015). MuSK autoantibodies in myasthenia gravis detected by cell based assay - A multinational study. Journal of Neuroimmunology. ISSN 0165-5728. 284, p. 10–17. doi: 10.1016/j.jneuroim.2015.04.015.
• Avidan, Nili; Panse, Rozen Le; Harbo, Hanne Flinstad; Bernasconi, Pia; Poulas, Konstantinos & Ginzburg, Elizabeta [Show all 28 contributors for this article] (2014). VAV1 and BAFF, via NFκB pathway, are genetic risk factors for myasthenia gravis. Annals of clinical and translational neurology. ISSN 2328-9503. 1(5), p. 329–339. doi: 10.1002/acn3.51.
• Heimdal, Ketil Riddervold; Sanchez Guixe, Monica; Aukrust, Ingvild; Bollerslev, Jens; Bruland, Ove & Jablonski, Greg [Show all 17 contributors for this article] (2014). STUB1 mutations in autosomal recessive ataxias - evidence for mutation-specific clinical heterogeneity. Orphanet Journal of Rare Diseases. ISSN 1750-1172. 9:146. doi: 10.1186/s13023-014-0146-0. Full text in Research Archive
• Koht, Jeanette ; Rengmark, Aina Sylvia Haugen; Opladen, Thomas; Bjørnarå, Kari Anne; Selberg, Tore & Tallaksen, Chantal [Show all 8 contributors for this article] (2014). Clinical and genetic studies in a family with a novel mutation in the sepiapterin reductase gene. Acta Neurologica Scandinavica. ISSN 0001-6314. 129(198), p. 7–12. doi: 10.1111/ane.12230.
• Horn, Morten Andreas; Nilsen, Kristian Bernhard; Jørum, Ellen; Mellgren, Svein Ivar & Tallaksen, Chantal (2014). Small nerve fiber involvement is frequent in X-linked adrenoleukodystrophy. Neurology. ISSN 0028-3878. 82(19), p. 1678–1683. doi: 10.1212/WNL.0000000000000415.
• Wedding, Iselin Marie; Koht, Jeanette ; Tran, Gia Tuong Thi; Misceo, Doriana; Selmer, Kaja Kristine & Holmgren, Asbjørn [Show all 10 contributors for this article] (2014). Spastic paraplegia type 7 is associated with multiple mitochondrial DNA deletions. PLOS ONE. ISSN 1932-6203. 9(1). doi: 10.1371/journal.pone.0086340. Full text in Research Archive
• Zisimopoulou, P.; Evangelakou, P.; Tzartos, J.; Lazaridis, K.; Zouvelou, V. & Mantegazza, Renato [Show all 32 contributors for this article] (2014). A comprehensive analysis of the epidemiology and clinical characteristics of anti-LRP4 in myasthenia gravis. Journal of Autoimmunity. ISSN 0896-8411. 52, p. 139–145. doi: 10.1016/j.jaut.2013.12.004.
• Wedding, Iselin Marie; Koht, Jeanette ; Dietrichs, Espen; Landrø, Nils Inge & Tallaksen, Chantal (2013). Cognition is only minimally impaired in Spinocerebellar ataxia type 14 (SCA14): a neuropsychological study of ten Norwegian subjects compared to intrafamilial controls and population norm. BMC Neurology. ISSN 1471-2377. 13:186. doi: 10.1186/1471-2377-13-186. Full text in Research Archive
• Horn, Morten Andreas; Erichsen, Martina Moter; Wolff, Anette Susanne Bøe; Månsson, Jan-Eric; Husebye, Eystein Sverre & Tallaksen, Chantal [Show all 7 contributors for this article] (2013). Screening for X-linked adrenoleukodystrophy among adult men with Addison's disease. Clinical Endocrinology. ISSN 0300-0664. 79(3), p. 316–320. doi: 10.1111/cen.12159.
• Sumathipala, Dulika S.; Abeysekera, Gayan S.; Jayasekara, Rohan W.; Tallaksen, Chantal & Dissanayake, Vajira H.W (2013). Autosomal dominant hereditary ataxia in Sri Lanka. BMC Neurology. ISSN 1471-2377. 13. doi: 10.1186/1471-2377-13-39.
• Horn, Morten Andreas; Retterstøl, Lars; Abdelnoor, Michael; Skjeldal, Ola & Tallaksen, Chantal (2013). Adrenoleukodystrophy in Norway: High Rate of De Novo Mutations and Age-Dependent Penetrance. Pediatric Neurology. ISSN 0887-8994. 48(3), p. 212–219. doi: 10.1016/j.pediatrneurol.2012.12.007.
• Maniaol, Angelina; Boldingh, Marion Ingeborg; Brunborg, Cathrine; Harbo, Hanne Flinstad & Tallaksen, Chantal (2013). Smoking and socio-economic status may affect myasthenia gravis. European Journal of Neurology. ISSN 1351-5101. 20(3), p. 453–460. doi: 10.1111/j.1468-1331.2012.03843.x.
• Gregersen, Peter K.; Kosoy, Roman; Lee, Annette T.; Lamb, Janine; Sussman, Jon & McKee, David [Show all 29 contributors for this article] (2012). Risk for Myasthenia Gravis Maps to a 151Pro!Ala Change in TNIP1 and to Human Leukocyte Antigen-B*08. Annals of Neurology. ISSN 0364-5134. 72(6), p. 927–935. doi: 10.1002/ana.23691.
• Maniaol, Angelina; Elsais, Ahmed; Lorentzen, Åslaug Rudjord; Owe, Jone Furulund; Viken, Marte K & Sæther, Hanne Skarpodde [Show all 17 contributors for this article] (2012). Late onset myasthenia gravis is associated with HLA DRB1*15:01 in the Norwegian population. PLOS ONE. ISSN 1932-6203. 7(5). doi: 10.1371/journal.pone.0036603. Full text in Research Archive
• Koht, Jeanette ; Stevanin, G; Durr, A; Mundwiller, E; Brice, A & Tallaksen, Chantal (2012). SCA14 in Norway, two families with autosomal dominant cerebellar ataxia and a novel mutation in the PRKCG gene. Acta Neurologica Scandinavica. ISSN 0001-6314. 125(2), p. 116–122. doi: 10.1111/j.1600-0404.2011.01504.x.
• Burgunder, Jean-Marc; Schöls, Ludger; Baets, Jonathan; Andersen, Peter Munch; Gasser, Thomas & Szolnoki, Zoltan [Show all 18 contributors for this article] (2011). EFNS guidelines for the molecular diagnosis of neurogenetic disorders: motoneuron, peripheral nerve and muscle disorders. European Journal of Neurology. ISSN 1351-5101. 18(2), p. 207–E20. doi: 10.1111/j.1468-1331.2010.03069.x.
• Alseth, Espen Homleid; Maniaol, Angelina; Elsais, Ahmed; Nakkestad, Hanne Linda; Tallaksen, Chantal & Gilhus, Nils Erik [Show all 7 contributors for this article] (2011). Investigation for RAPSN and DOK-7 mutations in a cohort of seronegative myasthenia gravis patients. Muscle and Nerve. ISSN 0148-639X. 43(4), p. 574–577. doi: 10.1002/mus.21919.
• Holmøy, Trygve; Braaten, Øivind; Hynås, Inger Anette & Tallaksen, Chantal (2011). En ung kvinne som mistet kraften i ett bein. Tidsskrift for Den norske legeforening. ISSN 0029-2001. 6, p. 583–586. doi: 10.4045/tidsskr.09.1499.
• Burgunder, J-M.; Finsterer, J.; Szolnoki, Z.; Fontaine, B.; Baets, J. & Van Broeckhoven, C. [Show all 17 contributors for this article] (2010). EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. European Journal of Neurology. ISSN 1351-5101. 17(5), p. 641–648. doi: 10.1111/j.1468-1331.2010.02985.x.
• Burgunder, JM; Et al, More authors; Tallaksen, Chantal & Harbo, Hanne Flinstad (2010). EFNS guidelines for the molecular diagnosis of neurodegenerative disorders:motoneuron, peripheral nerve and muscle disorders. European Journal of Neurology. ISSN 1351-5101. 18, p. 207–217. doi: 10.1111/j.468-1331.2010.03069.x.
• Koht, Jeanette ; Tallaksen, Chantal & ERICHSEN, ANNE KJERSTI (2010). Kapitell om ataksier og spastiske parapareser. In Gjerstad, Leif; Helseth, Eirik & Rootwelt, Terje (Ed.), Nevrologi og nevrokirurgi. Fra barn til voksen. 5.utgave. Forlaget Vett & Viten AS. ISSN 978-82-412-0686-3.
• Schlipf, NA; Beetz, C; Schule, R; Stevanin, G; ERICHSEN, ANNE KJERSTI & Forlani, S [Show all 17 contributors for this article] (2010). A total of 220 patients with autosomal dominant spastic paraplegia do not display mutations in the SLC33A1 gene (SPG42). European Journal of Human Genetics. ISSN 1018-4813. 18(9), p. 1065–1067. doi: 10.1038/ejhg.2010.68.
• Gasser, T; Finsterer, Josef; Baets, J; Van Broeckhoven, C; Di Donato, S & Fontaine, B [Show all 18 contributors for this article] (2010). EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. European Journal of Neurology. ISSN 1351-5101. 17(2), p. 179–188. doi: 10.1111/j.1468-1331.2009.02873.x.
• Yu-Wai-Man, Patrick; Griffiths, Philip G.; Gorman, Grainne S.; Lourenco, Charles Marques; Wright, Alan F. & Auer-Grumbach, Michaela [Show all 36 contributors for this article] (2010). Multi-system neurological disease is common in patients with OPA1 mutations. Brain. ISSN 0006-8950. 133, p. 771–786. doi: 10.1093/brain/awq007.
• Maniaol, Angelina; Brunborg, Cathrine & Tallaksen, Chantal (2010). Development and Validation of a Self-Administered Questionnaire for Myasthenia Gravis Patients. Neuroepidemiology. ISSN 0251-5350. 34(4), p. 253–261. doi: 10.1159/000297753.
• Vevelstad, Merete Synnøve; Pettersen, S; Tallaksen, C & Brørs, Odd (2009). O-demethylation of codeine to morphine inhibited by low-dose levomepromazine. European Journal of Clinical Pharmacology. ISSN 0031-6970. 65(8), p. 795–801. doi: 10.1007/s00228-009-0640-9.
• ERICHSEN, ANNE KJERSTI; Server, A.; Landrø, Nils Inge; Sandvik, L & Tallaksen, Chantal (2009). Proton magnetic resonance spectroscopy and cognition in patients with spastin mutations. Journal of the Neurological Sciences. ISSN 0022-510X. 277(1-2), p. 124–129. doi: 10.1016/j.jns.2008.10.030.
• Selmer, Kaja K.; Eriksson, AS; Brandal, K; Egeland, Thore; Tallaksen, C & Undlien, DE (2009). Parental SCN1A mutation mosaicism in familial Dravet syndrome. Clinical Genetics. ISSN 0009-9163. 76(4), p. 398–403. doi: 10.1111/j.1399-0004.2009.01208.x.
• Koht, Jeanette Aimee; Bjornara, KA; Jørum, Ellen & Tallaksen, Chantal (2009). Ataxia with vitamin E deficiency in southeast Norway, case report. Acta Neurologica Scandinavica. ISSN 0001-6314. 120, p. 42–45.
• ERICHSEN, ANNE KJERSTI; Koht, Jeanette ; Stray-Pedersen, Asbjørg; Abdelnoor, Michael & Tallaksen, Chantal (2009). Prevalence of hereditary ataxia and spastic paraplegia in southeast Norway: a population-based study. Brain. ISSN 0006-8950. 132, p. 1577–1588. doi: 10.1093/brain/awp056.
• Tallaksen, Chantal (2008). Arvelige ataksier. Tidsskrift for Den norske legeforening. ISSN 0029-2001. 128(17), p. 1977–1980.
• Erichsen, AK; Stevanin, G; Denora, P; Brice, A & Tallaksen, Chantal (2008). SPG11 - the most common type of recessive spastic paraplegia in Norway? Acta Neurologica Scandinavica. ISSN 0001-6314. 117, p. 46–50.
• Horn, Morten Andreas; van den Brink, D. M.; Wanders, R.J.A.; Duran, Marinus; Poll-The, B. T. & Tallaksen, Chantal [Show all 9 contributors for this article] (2007). Phenotype of adult Refsum disease due to a defect in peroxin 7. Neurology. ISSN 0028-3878. 68, p. 698–700. doi: 10.1212/01.wnl.0000257903.51937.88. Show summary

  The biochemical hallmark of adult Refsum disease (ARD) is an isolated deficiency in the breakdown of phytanic acid. This usually results from a PHYH gene defect, although some cases have been found to carry a PEX7 defect. We describe the phenotype of such a patient, indistinguishable from that of classic ARD. Hence, we propose the subdivision of ARD into type 1 and type 2, depending on which gene is defective

• Koht, Jeanette Aimee & Tallaksen, Chantal (2007). Cerebellar ataxia in the eastern and southern parts of Norway. Acta Neurologica Scandinavica. ISSN 0001-6314. 115.
• Erichsen, AK; Inderhaug, E; Mattingsdal, M; Eiklid, K & Tallaksen, Chantal (2007). Seven novel mutations and four exon deletions in a collection of Norwegian patients with SPG4 hereditary spastic paraplegia. European Journal of Neurology. ISSN 1351-5101. 14, p. 809–814. doi: 10.1111/j.1468-1331.2007.01861.x.
• Depienne, C; Tallaksen, Chantal; Lephav, JY; Bricka, B; Poea-Guvon, S & Fontaine, B [Show all 9 contributors for this article] (2005). Spastin mutations are frequent in sporadic spastic paraparesis and their spectrum is different from the one observed in familial cases. Journal of Medical Genetics. ISSN 0022-2593.
• Tallaksen, Chantal & Dietrichs, Espen (2004). Genetikk ved bevegelsesforstyrrelser- spinocerebellære lidelser. Tidsskrift for Den norske legeforening. ISSN 0029-2001. 17(124), p. 2233–2235.
• Dietrichs, Espen & Tallaksen, Chantal (2004). Genetikk ved bevegelsesforstyrrelser - dystoni, tremor og chorea. Tidsskrift for Den norske legeforening. ISSN 0029-2001.
• Tallaksen, Chantal; Guichart-Gomez, E; Verpillat, P; Hahn-Barma, V; Ruberg, M & Fontaine, B [Show all 9 contributors for this article] (2004). Subtle, cognitive impairment but no dementia in patients with spastims mutations. Archives of Neurology. ISSN 0003-9942. 60, p. 1113–1118.
• Tallaksen, Chantal; Guichart-Gomez, E; Verpillat, P; Hahn-Barma, V; Ruberg, M & Fontaine, B [Show all 9 contributors for this article] (2004). Subtle cognitive inpairment but no dementia in patients with spastin mutations. Archives of Neurology. ISSN 0003-9942. 60, p. 1113–1118.
• Dürr, A; Camuzat, A; Colin, E; Tallaksen, Chantal; Hannequin, D & Couthino, P [Show all 13 contributors for this article] (2004). Atlastin mutations are frequent in young onset autosomal dominant spastic paralegia. Archives of Neurology. ISSN 0003-9942. 61, p. 1867–1873.
• Tallaksen, Chantal; Skjeldal, OH & Gjerstad, L (2004). Spinocecerebellare degenerasjoner. In Nevrologi og Nevrokirurgi, Vett & Viten AS. p. 423–430.
• Dürr, A & Tallaksen, Chantal (2004). SPG4 Hereditary Spastic Paraplegia. Gene Reviews : Gene Tests.
• Tallaksen, Chantal (2003). Subtle cognitive impairment but no dementia in patients with spastin mutations. Archives of Neurology. ISSN 0003-9942. 60, p. 1113–1118.
• Tallaksen, Chantal; Sande, Sverre Arne; Bøhmer, Thomas; Bell, Helge & Karlsen, Jan (1993). Kinetics of thiamin phosphate esters in human blood, plasma and urine after 50 mg intravenously or orally. European Journal of Clinical Pharmacology. ISSN 0031-6970. 44, p. 73–78.

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• Roux, Thomas; Barbier, Mathieu; Papin, Mélanie; Davoine, Claire-Sophie; Sayah, Sabrina & Coarelli, Giulia [Show all 95 contributors for this article] (2021). Correction: Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment (Genetics in Medicine, (2020), 22, 11, (1851-1862), 10.1038/s41436-020-0899-x). Genetics in Medicine. ISSN 1098-3600. 23(10). doi: 10.1038/s41436-020-01064-y.
• Tallaksen, Chantal & Narverud, Sverre F. (2021). Shoshin beriberi. Tidsskrift for Den norske legeforening. ISSN 0029-2001. 141(6), p. 1–2. doi: 10.4045/tidsskr.21.0215.
• Samuelsson, Kristin; Radovic, Ana; Press, Rayomond; Auranen, Mari; Ylikallio, Emil & Tyynismaa, Henna [Show all 16 contributors for this article] (2018). Screening for Fabry disease and Hereditary ATTR amyloidosis in idiopathic small-fiber and mixed neuropathy. Muscle and Nerve. ISSN 0148-639X. 59(3), p. 354–357. doi: 10.1002/mus.26348.
• Arntzen, Kjell Arne; Høyer, Helle; Ørstavik, Kristin; Tallaksen, Chantal; Vedeler, Christian A. & Østern, Rune André Helland [Show all 9 contributors for this article] (2018). Clinical characteristics, minimum prevalence and spectrum of SH3TC2 mutations in Norway.
• Tallaksen, Chantal & Müller, Ulrich (2017). Cancer and neurodegeneration: Time to move beyond Janus? Neurology. ISSN 0028-3878. 88(12), p. 1106–1107. doi: 10.1212/WNL.0000000000003727.
• Rydning, Siri Lynne; Backe, Paul Hoff; Sousa, Mirta; Iqbal, Zafar; Øye, Ane-Marte & Sheng, Ying [Show all 14 contributors for this article] (2017). Corrigendum: Novel UCHL1 mutations reveal new insights into ubiquitin processing. Human Molecular Genetics. ISSN 0964-6906. 26(6), p. 1217–1218. doi: 10.1093/hmg/ddx072.
• Hikmat, Omar; Tzoulis, Charalampos; Klingenberg, Claus; Rasmussen, Magnhild; Tallaksen, Chantal & Brodtkorb, Eylert [Show all 10 contributors for this article] (2017). Erratum to: The presence of anaemia negatively influences survival in patients with POLG disease (Journal of Inherited Metabolic Disease, (2017), 40, 6, (861-866), 10.1007/s10545-017-0084-9). The Journal of Inherited Metabolic Disease (JIMD). ISSN 0141-8955. 41(1), p. 153–153. doi: 10.1007/s10545-017-0092-9.
• Arntzen, Kjell Arne; Høyer, Helle; Ingebrigtsen, Monica; Busk, Øyvind Løvold; Holla, Øystein Lunde & Tveten, Kristian [Show all 13 contributors for this article] (2016). Prevalence and spectrum of SH3TC2 mutations in Norway.
• Gilhus, Nils Erik; Kerty, Emilia; Løseth, Sissel; Mygland, Åse & Tallaksen, Chantal (2016). Myasthenia gravis - diagnostikk og behandling. Tidsskrift for Den norske legeforening. ISSN 0029-2001. 136(12/13), p. 1089–1094. doi: 10.4045/tidsskr.15.1259.
• Jahic, Amir; ERICHSEN, ANNE KJERSTI; Deufel, Thomas; Tallaksen, Chantal & Beetz, Christian (2016). A polymorphic Alu insertion that mediates distinct disease-associated deletions. European Journal of Human Genetics. ISSN 1018-4813. 24(9), p. 1371–1374. doi: 10.1038/ejhg.2016.20.
• Horn, Morten Andreas; Retterstøl, Lars; Abdelnoor, Michael; Skjeldal, Ola & Tallaksen, Chantal (2015). Age-dependent penetrance among females with X-linked adrenoleukodystrophy. Brain. ISSN 0006-8950. 138(1). doi: 10.1093/brain/awu232.
• Wedding, Iselin Marie; Koht, Jeanette ; Landro, N. I. & Tallaksen, Chantal (2012). Cerebellum - more than motor control? Cognition in spinocerebellar ataxia type 14. European Journal of Neurology. ISSN 1351-5101. 19, p. 62–62.
• Du Montcel, Sophie Tezenas; Charles, Perrine; Goizet, Cyril; Marelli, Cecilia; Anheim, Mathieu & Guyant-Marchal, Lucie [Show all 16 contributors for this article] (2012). Sample Size Estimation for Future Therapeutic Trials in SCAs. Neurology. ISSN 0028-3878. 78.
• Maniaol, Angelina; Boldingh, Marion Ingeborg; Brunborg, Cathrine; Harbo, Hanne Flinstad & Tallaksen, Chantal (2011). A POPULATION-BASED DESCRIPTIVE EPIDEMIOLOGIC STUDY OF MYASTHENIA GRAVIS IN NORWAY. European Journal of Neurology. ISSN 1351-5101. 18(S2), p. 276–276.
• Koht, Jeanette & Tallaksen, Chantal (2010). Two new autosomal dominant ataxia loci.
• Tallaksen, Chantal & Reid, E. (2010). Molecular genetics of spastic paraplegia. European Journal of Neurology. ISSN 1351-5101. 17, p. 641–641.
• Tallaksen, Chantal & Coutinho, P (2010). Clinical diagnosis of hereditary spastic paraplegia. European Journal of Neurology. ISSN 1351-5101. 17(supp. 3), p. 642–642.
• ERICHSEN, ANNE KJERSTI; Koht, Jeanette Aimee; Abdelnoor, M & Tallaksen, Chantal (2008). Hereditary spastic paraplegia in south-eastern Norway. European Journal of Neurology. ISSN 1351-5101. 15, p. 354–354.

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