Chantal M.E. Tallaksen
- Professor in neurology; MD, PhD
- +47 22118644
Publications 2023
Evolution of Clinical Outcome Measures and Biomarkers in Sporadic Adult-Onset Degenerative Ataxia
Mov Disord, 38 (4), 654-664
DOI 10.1002/mds.29324, PubMed 36695111
Publications 2021
[Shoshin beriberi]
Tidsskr Nor Laegeforen, 141 (6)
DOI 10.4045/tidsskr.21.0215, PubMed 33876616
Publications 2020
Simplifying the clinical classification of polymerase gamma (POLG) disease based on age of onset; studies using a cohort of 155 cases
J Inherit Metab Dis, 43 (4), 726-736
DOI 10.1002/jimd.12211, PubMed 32391929
The impact of gender, puberty, and pregnancy in patients with POLG disease
Ann Clin Transl Neurol, 7 (10), 2019-2025
DOI 10.1002/acn3.51199, PubMed 32949115
Mental health and health related quality of life in mitochondrial POLG disease
Mitochondrion, 55, 95-99
DOI 10.1016/j.mito.2020.09.005, PubMed 32976988
Elevated hydroxycholesterols in Norwegian patients with hereditary spastic paraplegia SPG5
J Neurol Sci, 419, 117211
DOI 10.1016/j.jns.2020.117211, PubMed 33160247
Publications 2019
Long-term follow-up, quality of life, and survival of patients with Lambert-Eaton myasthenic syndrome
Neurology, 94 (5), e511-e520
DOI 10.1212/WNL.0000000000008747, PubMed 31831596
Biallelic POLR3A variants confirmed as a frequent cause of hereditary ataxia and spastic paraparesis
Brain, 142 (4), e12
DOI 10.1093/brain/awz041, PubMed 30847471
Fever-related ataxia: a case report of CAPOS syndrome
Cerebellum Ataxias, 6, 2
DOI 10.1186/s40673-019-0096-3, PubMed 31410291
Publications 2018
Charcot-Marie-Tooth disease type 4C in Norway: Clinical characteristics, mutation spectrum and minimum prevalence
Neuromuscul Disord, 28 (8), 639-645
DOI 10.1016/j.nmd.2018.06.004, PubMed 30001926
Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes
JAMA Neurol, 75 (5), 591-599
DOI 10.1001/jamaneurol.2017.5121, PubMed 29482223
Elevated cerebrospinal fluid protein in POLG-related epilepsy: Diagnostic and prognostic implications
Epilepsia, 59 (8), 1595-1602
DOI 10.1111/epi.14459, PubMed 29920680
Erratum to: The presence of anaemia negatively influences survival in patients with POLG disease
J Inherit Metab Dis, 41 (1), 153
DOI 10.1007/s10545-017-0092-9, PubMed 28952135
Spastic paraplegia due to SPAST mutations is modified by the underlying mutation and sex
Brain, 141 (12), 3331-3342
DOI 10.1093/brain/awy285, PubMed 30476002
A novel heterozygous variant in ERLIN2 causes autosomal dominant pure hereditary spastic paraplegia
Eur J Neurol, 25 (7), 943-e71
DOI 10.1111/ene.13625, PubMed 29528531
Screening for Fabry disease and Hereditary ATTR amyloidosis in idiopathic small-fiber and mixed neuropathy
Muscle Nerve, 59 (3), 354-357
DOI 10.1002/mus.26348, PubMed 30246259
Homocarnosinosis: A historical update and findings in the SPG11 gene
Acta Neurol Scand, 138 (3), 245-250
DOI 10.1111/ane.12949, PubMed 29732542
Publications 2017
Prevalence and clinical aspects of immigrants with myasthenia gravis in northern Europe
Muscle Nerve, 55 (6), 819-827
DOI 10.1002/mus.25408, PubMed 27641227
Clinical and genetic characteristics of sporadic adult-onset degenerative ataxia
Neurology, 89 (10), 1043-1049
DOI 10.1212/WNL.0000000000004311, PubMed 28794257
The presence of anaemia negatively influences survival in patients with POLG disease
J Inherit Metab Dis, 40 (6), 861-866
DOI 10.1007/s10545-017-0084-9, PubMed 28865037
Targeted high throughput sequencing in hereditary ataxia and spastic paraplegia
PLoS One, 12 (3), e0174667
DOI 10.1371/journal.pone.0174667, PubMed 28362824
Correction: Targeted high throughput sequencing in hereditary ataxia and spastic paraplegia
PLoS One, 12 (10), e0186571
DOI 10.1371/journal.pone.0186571, PubMed 29023604
Novel UCHL1 mutations reveal new insights into ubiquitin processing
Hum Mol Genet, 26 (6), 1031-1040
DOI 10.1093/hmg/ddw391, PubMed 28007905
Novel UCHL1 mutations reveal new insights into ubiquitin processing
Hum Mol Genet, 26 (6), 1217-1218
DOI 10.1093/hmg/ddx072, PubMed 28334853
Cancer and neurodegeneration: Time to move beyond Janus?
Neurology, 88 (12), 1106-1107
DOI 10.1212/WNL.0000000000003727, PubMed 28202693
Publications 2016
Increased risk for clinical onset of myasthenia gravis during the postpartum period
Neurology, 87 (20), 2139-2145
DOI 10.1212/WNL.0000000000003339, PubMed 27770065
[Myasthenia gravis - optimal treatment and accurate diagnosis]
Tidsskr Nor Laegeforen, 136 (12-13), 1089-94
DOI 10.4045/tidsskr.15.1259, PubMed 27381787
A polymorphic Alu insertion that mediates distinct disease-associated deletions
Eur J Hum Genet, 24 (9), 1371-4
DOI 10.1038/ejhg.2016.20, PubMed 26932189
Benign hereditary chorea, not only chorea: a family case presentation
Cerebellum Ataxias, 3, 3
DOI 10.1186/s40673-016-0041-7, PubMed 26839702
Standardized Assessment of Hereditary Ataxia Patients in Clinical Studies
Mov Disord Clin Pract, 3 (3), 230-240
DOI 10.1002/mdc3.12315, PubMed 30363623
A founder mutation p.H701P identified as a major cause of SPG7 in Norway
Eur J Neurol, 23 (4), 763-71
DOI 10.1111/ene.12937, PubMed 26756429
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 Neurol, 16 (1), 252
DOI 10.1186/s12883-016-0771-4, PubMed 27919248
Titin antibodies in "seronegative" myasthenia gravis--A new role for an old antigen
J Neuroimmunol, 292, 108-15
DOI 10.1016/j.jneuroim.2016.01.018, PubMed 26943968
Publications 2015
An up-date on health-related quality of life in myasthenia gravis -results from population based cohorts
Health Qual Life Outcomes, 13, 115
DOI 10.1186/s12955-015-0298-1, PubMed 26232146
Geographical Distribution of Myasthenia Gravis in Northern Europe--Results from a Population-Based Study from Two Countries
Neuroepidemiology, 44 (4), 221-31
DOI 10.1159/000431036, PubMed 26068011
Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia
Brain, 138 (Pt 8), 2191-205
DOI 10.1093/brain/awv143, PubMed 26026163
Mild phenotype in an adult male with X-linked adrenoleukodystrophy - case report
Clin Case Rep, 4 (2), 177-81
DOI 10.1002/ccr3.434, PubMed 26862418
Survival and severity in dominant cerebellar ataxias
Ann Clin Transl Neurol, 2 (2), 202-7
DOI 10.1002/acn3.156, PubMed 25750924
MuSK autoantibodies in myasthenia gravis detected by cell based assay--A multinational study
J Neuroimmunol, 284, 10-7
DOI 10.1016/j.jneuroim.2015.04.015, PubMed 26025053
Friedreich ataxia in Norway - an epidemiological, molecular and clinical study
Orphanet J Rare Dis, 10, 108
DOI 10.1186/s13023-015-0328-4, PubMed 26338206
Publications 2014
VAV1 and BAFF, via NFκB pathway, are genetic risk factors for myasthenia gravis
Ann Clin Transl Neurol, 1 (5), 329-39
DOI 10.1002/acn3.51, PubMed 25356403
STUB1 mutations in autosomal recessive ataxias - evidence for mutation-specific clinical heterogeneity
Orphanet J Rare Dis, 9, 146
DOI 10.1186/s13023-014-0146-0, PubMed 25258038
Small nerve fiber involvement is frequent in X-linked adrenoleukodystrophy
Neurology, 82 (19), 1678-83
DOI 10.1212/WNL.0000000000000415, PubMed 24719486
Age-dependent penetrance among females with X-linked adrenoleukodystrophy
Brain, 138 (Pt 2), e325
DOI 10.1093/brain/awu232, PubMed 25149409
Clinical and genetic studies in a family with a novel mutation in the sepiapterin reductase gene
Acta Neurol Scand Suppl (198), 7-12
DOI 10.1111/ane.12230, PubMed 24588500
Spastic paraplegia type 7 is associated with multiple mitochondrial DNA deletions
PLoS One, 9 (1), e86340
DOI 10.1371/journal.pone.0086340, PubMed 24466038
Publications 2013
Screening for X-linked adrenoleukodystrophy among adult men with Addison's disease
Clin Endocrinol (Oxf), 79 (3), 316-20
DOI 10.1111/cen.12159, PubMed 23346902
Adrenoleukodystrophy in Norway: high rate of de novo mutations and age-dependent penetrance
Pediatr Neurol, 48 (3), 212-9
DOI 10.1016/j.pediatrneurol.2012.12.007, PubMed 23419472
Autosomal dominant hereditary ataxia in Sri Lanka
BMC Neurol, 13, 39
DOI 10.1186/1471-2377-13-39, PubMed 23634774
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 Neurol, 13, 186
DOI 10.1186/1471-2377-13-186, PubMed 24289098
A comprehensive analysis of the epidemiology and clinical characteristics of anti-LRP4 in myasthenia gravis
J Autoimmun, 52, 139-45
DOI 10.1016/j.jaut.2013.12.004, PubMed 24373505
Publications 2012
Risk for myasthenia gravis maps to a (151) Pro→Ala change in TNIP1 and to human leukocyte antigen-B*08
Ann Neurol, 72 (6), 927-35
DOI 10.1002/ana.23691, PubMed 23055271
Smoking and socio-economic status may affect myasthenia gravis
Eur J Neurol, 20 (3), 453-460
DOI 10.1111/j.1468-1331.2012.03843.x, PubMed 22934661
Late onset myasthenia gravis is associated with HLA DRB1*15:01 in the Norwegian population
PLoS One, 7 (5), e36603
DOI 10.1371/journal.pone.0036603, PubMed 22590574
Factors influencing disease progression in autosomal dominant cerebellar ataxia and spastic paraplegia
Arch Neurol, 69 (4), 500-8
DOI 10.1001/archneurol.2011.2713, PubMed 22491195
Publications 2011
Investigation for RAPSN and DOK-7 mutations in a cohort of seronegative myasthenia gravis patients
Muscle Nerve, 43 (4), 574-7
DOI 10.1002/mus.21919, PubMed 21305573
EFNS guidelines for the molecular diagnosis of neurogenetic disorders: motoneuron, peripheral nerve and muscle disorders
Eur J Neurol, 18 (2), 207-217
DOI 10.1111/j.1468-1331.2010.03069.x, PubMed 20500522
[A young woman with a weakening leg]
Tidsskr Nor Laegeforen, 131 (6), 583-6
DOI 10.4045/tidsskr.09.1499, PubMed 21423311
SCA14 in Norway, two families with autosomal dominant cerebellar ataxia and a novel mutation in the PRKCG gene
Acta Neurol Scand, 125 (2), 116-22
DOI 10.1111/j.1600-0404.2011.01504.x, PubMed 21434874
Publications 2010
EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias
Eur J Neurol, 17 (5), 641-8
DOI 10.1111/j.1468-1331.2010.02985.x, PubMed 20298421
Development and validation of a self-administered questionnaire for myasthenia gravis patients
Neuroepidemiology, 34 (4), 253-61
DOI 10.1159/000297753, PubMed 20299807
A total of 220 patients with autosomal dominant spastic paraplegia do not display mutations in the SLC33A1 gene (SPG42)
Eur J Hum Genet, 18 (9), 1065-7
DOI 10.1038/ejhg.2010.68, PubMed 20461110
Multi-system neurological disease is common in patients with OPA1 mutations
Brain, 133 (Pt 3), 771-86
DOI 10.1093/brain/awq007, PubMed 20157015
Publications 2009
Prevalence of hereditary ataxia and spastic paraplegia in southeast Norway: a population-based study
Brain, 132 (Pt 6), 1577-88
DOI 10.1093/brain/awp056, PubMed 19339254
EFNS guidelines on the molecular diagnosis of mitochondrial disorders
Eur J Neurol, 16 (12), 1255-64
DOI 10.1111/j.1468-1331.2009.02811.x, PubMed 19950421
EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias
Eur J Neurol, 17 (2), 179-88
DOI 10.1111/j.1468-1331.2009.02873.x, PubMed 20050888
Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10
Hum Mutat, 30 (2), E376-85
DOI 10.1002/humu.20920, PubMed 18853458
EFNS guidelines on the molecular diagnosis of neurogenetic disorders: general issues, Huntington's disease, Parkinson's disease and dystonias
Eur J Neurol, 16 (7), 777-85
DOI 10.1111/j.1468-1331.2009.02646.x, PubMed 19469830
Ataxia with vitamin E deficiency in southeast Norway, case report
Acta Neurol Scand Suppl (189), 42-5
DOI 10.1111/j.1600-0404.2009.01214.x, PubMed 19566498
Parental SCN1A mutation mosaicism in familial Dravet syndrome
Clin Genet, 76 (4), 398-403
DOI 10.1111/j.1399-0004.2009.01208.x, PubMed 19673951
Miglustat therapy in juvenile Sandhoff disease
J Inherit Metab Dis, 32 Suppl 1, S289-93
DOI 10.1007/s10545-009-1224-7, PubMed 19898953
O-demethylation of codeine to morphine inhibited by low-dose levomepromazine
Eur J Clin Pharmacol, 65 (8), 795-801
DOI 10.1007/s00228-009-0640-9, PubMed 19308365
Publications 2008
Proton magnetic resonance spectroscopy and cognition in patients with spastin mutations
J Neurol Sci, 277 (1-2), 124-9
DOI 10.1016/j.jns.2008.10.030, PubMed 19084842
SPG11--the most common type of recessive spastic paraplegia in Norway?
Acta Neurol Scand Suppl, 188, 46-50
DOI 10.1111/j.1600-0404.2008.01031.x, PubMed 18439221
[Hereditary ataxias]
Tidsskr Nor Laegeforen, 128 (17), 1977-80
PubMed 18787576
Publications 2007
Seven novel mutations and four exon deletions in a collection of Norwegian patients with SPG4 hereditary spastic paraplegia
Eur J Neurol, 14 (7), 809-14
DOI 10.1111/j.1468-1331.2007.01861.x, PubMed 17594340
Phenotype of adult Refsum disease due to a defect in peroxin 7
Neurology, 68 (9), 698-700
DOI 10.1212/01.wnl.0000255960.01644.39, PubMed 17325280
Cerebellar ataxia in the eastern and southern parts of Norway
Acta Neurol Scand Suppl, 187, 76-9
DOI 10.1111/j.1600-0404.2007.00853.x, PubMed 17419835
Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration
Brain, 131 (Pt 3), 772-84
DOI 10.1093/brain/awm293, PubMed 18079167
Publications 2006
Exon deletions of SPG4 are a frequent cause of hereditary spastic paraplegia
J Med Genet, 44 (4), 281-4
DOI 10.1136/jmg.2006.046425, PubMed 17098887
Gene symbol: SPAST. Disease: Spastic paraparesis. Accession #Hm0555
Hum Genet, 118 (6), 782
PubMed 17297711
Gene symbol: SPAST. Disease: Spastic paraparesis. Accession #Hs0516
Hum Genet, 118 (6), 785
PubMed 17297722
Gene symbol: SPAST. Disease: Spastic paraparesis. Accession #Hd0519
Hum Genet, 118 (6), 776
PubMed 17297686
Gene symbol: SPAST (SPG4). Disease: Spastic paraparesis. Accession #Hm0552
Hum Genet, 118 (6), 781
PubMed 17297708
Gene symbol: SPAST. Disease: Spastic paraparesis. Accession #Hm0553
Hum Genet, 118 (6), 782
PubMed 17297709
Gene symbol: SPAST. Disease: Spastic paraparesis. Accession #Hm0554
Hum Genet, 118 (6), 782
PubMed 17297710
Gene symbol: SPAST. Disease: Spastic paraparesis. Accession #Hm0556
Hum Genet, 118 (6), 782
PubMed 17297712
Gene symbol: SPAST. Disease: Spastic paraparesis. Accession #Hm0557
Hum Genet, 118 (6), 783
PubMed 17297713
Gene symbol: SPAST. Disease: spastic paraparesis. Accession #Hs0515
Hum Genet, 118 (6), 785
PubMed 17297721
Mutation analysis of the paraplegin gene (SPG7) in patients with hereditary spastic paraplegia
Neurology, 66 (5), 654-9
DOI 10.1212/01.wnl.0000201185.91110.15, PubMed 16534102
The chemokine CXCL13 is a key molecule in autoimmune myasthenia gravis
Blood, 108 (2), 432-40
DOI 10.1182/blood-2005-06-2383, PubMed 16543475
Publications 2005
Spastin mutations are frequent in sporadic spastic paraparesis and their spectrum is different from that observed in familial cases
J Med Genet, 43 (3), 259-65
DOI 10.1136/jmg.2005.035311, PubMed 16055926
Publications 2004
[Genetics in movement disorders--dystonia, tremor and chorea]
Tidsskr Nor Laegeforen, 124 (17), 2236-7
PubMed 15356687
Atlastin1 mutations are frequent in young-onset autosomal dominant spastic paraplegia
Arch Neurol, 61 (12), 1867-72
DOI 10.1001/archneur.61.12.1867, PubMed 15596607
[The genetics of movement disorders--spinocerebellar degenerations]
Tidsskr Nor Laegeforen, 124 (17), 2233-5
PubMed 15356686
Publications 2003
Subtle cognitive impairment but no dementia in patients with spastin mutations
Arch Neurol, 60 (8), 1113-8
DOI 10.1001/archneur.60.8.1113, PubMed 12925368
Publications 2002
Spastic paraparesis and atypical dementia caused by PSEN1 mutation (P264L), responsible for Alzheimer's disease
J Med Genet, 39 (2), E2
DOI 10.1136/jmg.39.2.e2, PubMed 11836371
Publications 2001
Recent advances in hereditary spastic paraplegia
Curr Opin Neurol, 14 (4), 457-63
DOI 10.1097/00019052-200108000-00005, PubMed 11470961
Publications 2000
Excitatory effect of thiamin on CA1 pyramidal neurones in rat hippocampal slices in vitro
Eur J Neurol, 7 (6), 693-8
DOI 10.1046/j.1468-1331.2000.00132.x, PubMed 11136357
Publications 1999
[Normal pressure hydrocephalus--evaluation of investigation procedures]
Tidsskr Nor Laegeforen, 119 (12), 1744-9
PubMed 10380589
Publications 1998
[Thiamine treatment today]
Tidsskr Nor Laegeforen, 118 (25), 3946-9
PubMed 9830340
Publications 1997
Determination of thiamin and its phosphate esters in human blood, plasma, and urine
Methods Enzymol, 279, 67-74
DOI 10.1016/s0076-6879(97)79010-4, PubMed 9211258
Postradiation lower motor neuron syndrome--a case report and brief literature review
Acta Oncol, 36 (3), 345-7
DOI 10.3109/02841869709001276, PubMed 9208910
Publications 1994
Carbohydrate-deficient transferrin and other markers of high alcohol consumption: a study of 502 patients admitted consecutively to a medical department
Alcohol Clin Exp Res, 18 (5), 1103-8
DOI 10.1111/j.1530-0277.1994.tb00088.x, PubMed 7847591
[Scurvy with simultaneous wet beriberi in 2 patients]
Tidsskr Nor Laegeforen, 114 (27), 3181-3
PubMed 7809869
Elevated plasma thiamin concentrations in patients with rhabdomyolysis
Clin Nutr, 13 (2), 123-4
DOI 10.1016/0261-5614(94)90071-x, PubMed 16843371
Publications 1993
Serum carbohydrate-deficient transferrin as a marker of alcohol consumption in patients with chronic liver diseases
Alcohol Clin Exp Res, 17 (2), 246-52
DOI 10.1111/j.1530-0277.1993.tb00757.x, PubMed 8488962
Thiamin and thiamin phosphate ester deficiency assessed by high performance liquid chromatography in four clinical cases of Wernicke encephalopathy
Alcohol Clin Exp Res, 17 (3), 712-6
DOI 10.1111/j.1530-0277.1993.tb00825.x, PubMed 8333605
Kinetics of thiamin and thiamin phosphate esters in human blood, plasma and urine after 50 mg intravenously or orally
Eur J Clin Pharmacol, 44 (1), 73-8
DOI 10.1007/BF00315284, PubMed 8436160
Publications 1992
The concentration of thiamin and thiamin phosphate esters in patients with alcoholic liver cirrhosis
Alcohol Alcohol, 27 (5), 523-30
PubMed 1476555
Blood and serum thiamin and thiamin phosphate esters concentrations in patients with alcohol dependence syndrome before and after thiamin treatment
Alcohol Clin Exp Res, 16 (2), 320-5
DOI 10.1111/j.1530-0277.1992.tb01384.x, PubMed 1317136
Concentrations of the water-soluble vitamins thiamin, ascorbic acid, and folic acid in serum and cerebrospinal fluid of healthy individuals
Am J Clin Nutr, 56 (3), 559-64
DOI 10.1093/ajcn/56.3.559, PubMed 1503069
The concentrations of thiamin and thiamin phosphate esters in patients with alcohol dependence syndrome, and in reference populations
[C.M.E. Tallaksen], Oslo, 1 b. (flere pag.)
BIBSYS 932200540, ISBN 82-992893-0-0
Publications 1991
Concomitant determination of thiamin and its phosphate esters in human blood and serum by high-performance liquid chromatography
J Chromatogr, 564 (1), 127-36
DOI 10.1016/0378-4347(91)80075-n, PubMed 1860908