Mathias Toft
Position: Project group leader, MD, PhD
Phone: +47 99514189

Publications 2017

Berge-Seidl V, Pihlstrøm L, Maple-Grødem J, Forsgren L, Linder J, Larsen JP, Tysnes OB, Toft M (2017)
The GBA variant E326K is associated with Parkinson's disease and explains a genome-wide association signal
Neurosci Lett, 658, 48-52 (in press)
PubMed 28830825

Iqbal Z, Rydning SL, Wedding IM, Koht J, Pihlstrøm L, Rengmark AH, Henriksen SP, Tallaksen CM, Toft M (2017)
Targeted high throughput sequencing in hereditary ataxia and spastic paraplegia
PLoS One, 12 (3), e0174667
PubMed 28362824

Publications 2016

Iqbal Z, Pihlstrøm L, Rengmark A, Henriksen SP, Linder J, Forsgren L, Toft M (2016)
Rare variants in dementia genes and Parkinson's disease
Eur J Hum Genet, 24 (12), 1661-1662
PubMed 27329738

Pihlstrøm L, Morset KR, Grimstad E, Vitelli V, Toft M (2016)
A cumulative genetic risk score predicts progression in Parkinson's disease
Mov Disord, 31 (4), 487-90
PubMed 26853697

Rengmark A, Pihlstrøm L, Linder J, Forsgren L, Toft M (2016)
Low frequency of GCH1 and TH mutations in Parkinson's disease
Parkinsonism Relat Disord, 29, 109-11
PubMed 27185167

Toft M, Ross OA (2016)
Exome Variant Mining in Familial Parkinson Disease: Will Replication Find the Gold?
JAMA Neurol, 73 (1), 21-2
PubMed 26595415

Publications 2015

Iqbal Z, Toft M (2015)
CHCHD2 and Parkinson's disease
Lancet Neurol, 14 (7), 680-1
PubMed 26067113

Lill CM, Rengmark A, Pihlstrøm L, Fogh I, Shatunov A, Sleiman PM, Wang LS, Liu T, Lassen CF, Meissner E, Alexopoulos P, Calvo A, Chio A, Dizdar N, Faltraco F, Forsgren L, Kirchheiner J, Kurz A, Larsen JP, Liebsch M, Linder J, Morrison KE, Nissbrandt H, Otto M, Pahnke J et al. (2015)
The role of TREM2 R47H as a risk factor for Alzheimer's disease, frontotemporal lobar degeneration, amyotrophic lateral sclerosis, and Parkinson's disease
Alzheimers Dement, 11 (12), 1407-1416
PubMed 25936935

Pham U, Solbakk AK, Skogseid IM, Toft M, Pripp AH, Konglund AE, Andersson S, Haraldsen IR, Aarsland D, Dietrichs E, Malt UF (2015)
Personality changes after deep brain stimulation in Parkinson's disease
Parkinsons Dis, 2015, 490507
PubMed 25705545

Pham UH, Andersson S, Toft M, Pripp AH, Konglund AE, Dietrichs E, Malt UF, Skogseid IM, Haraldsen IR, Solbakk AK (2015)
Self-Reported Executive Functioning in Everyday Life in Parkinson's Disease after Three Months of Subthalamic Deep Brain Stimulation
Parkinsons Dis, 2015, 461453
PubMed 26167329

Pihlstrøm L, Rengmark A, Bjørnarå KA, Dizdar N, Fardell C, Forsgren L, Holmberg B, Larsen JP, Linder J, Nissbrandt H, Tysnes OB, Dietrichs E, Toft M (2015)
Fine mapping and resequencing of the PARK16 locus in Parkinson's disease
J Hum Genet, 60 (7), 357-62
PubMed 25855069

Pihlstrøm L, Toft M (2015)
Cumulative genetic risk and age at onset in Parkinson's disease
Mov Disord, 30 (12), 1712-3
PubMed 26234887

Wang L, Aasly JO, Annesi G, Bardien S, Bozi M, Brice A, Carr J, Chung SJ, Clarke C, Crosiers D, Deutschländer A, Eckstein G, Farrer MJ, Goldwurm S, Garraux G, Hadjigeorgiou GM, Hicks AA, Hattori N, Klein C, Jeon B, Kim YJ, Lesage S, Lin JJ, Lynch T, Lichtner P et al. (2015)
Large-scale assessment of polyglutamine repeat expansions in Parkinson disease
Neurology, 85 (15), 1283-92
PubMed 26354989

Publications 2014

Bjerknes S, Skogseid IM, Sæhle T, Dietrichs E, Toft M (2014)
Surgical site infections after deep brain stimulation surgery: frequency, characteristics and management in a 10-year period
PLoS One, 9 (8), e105288
PubMed 25122445

Bjørnarå KA, Dietrichs E, Toft M (2014)
Clinical features associated with sleep disturbances in Parkinson's disease
Clin Neurol Neurosurg, 124, 37-43
PubMed 25016237

Børretzen MN, Bjerknes S, Sæhle T, Skjelland M, Skogseid IM, Toft M, Dietrichs E (2014)
Long-term follow-up of thalamic deep brain stimulation for essential tremor - patient satisfaction and mortality
BMC Neurol, 14, 120
PubMed 24903550

Koht J, Rengmark A, Opladen T, Bjørnarå KA, Selberg T, Tallaksen CM, Blau N, Toft M (2014)
Clinical and genetic studies in a family with a novel mutation in the sepiapterin reductase gene
Acta Neurol Scand Suppl (198), 7-12
PubMed 24588500

Lilleeng B, Brønnick K, Toft M, Dietrichs E, Larsen JP (2014)
Progression and survival in Parkinson's disease with subthalamic nucleus stimulation
Acta Neurol Scand, 130 (5), 292-8
PubMed 24495107

Pihlstrøm L, Berge V, Rengmark A, Toft M (2014)
Parkinson's disease correlates with promoter methylation in the α-synuclein gene
Mov Disord, 30 (4), 577-80
PubMed 25545759

Pihlstrøm L, Rengmark A, Bjørnarå KA, Toft M (2014)
Effective variant detection by targeted deep sequencing of DNA pools: an example from Parkinson's disease
Ann Hum Genet, 78 (3), 243-52
PubMed 24660942

Toft M (2014)
Advances in genetic diagnosis of neurological disorders
Acta Neurol Scand Suppl (198), 20-5
PubMed 24588502

Publications 2013

Karlsson MK, Sharma P, Aasly J, Toft M, Skogar O, Sæbø S, Lönneborg A (2013)
Found in transcription: accurate Parkinson's disease classification in peripheral blood
J Parkinsons Dis, 3 (1), 19-29
PubMed 23938308

Toft M, Dietrichs E (2013)
Medication costs following subthalamic nucleus deep brain stimulation for Parkinson's disease
Mov Disord, 29 (2), 275-6
PubMed 23696136

Publications 2012

Bjørnarå KA, Dietrichs E, Toft M (2012)
REM sleep behavior disorder in Parkinson's disease--is there a gender difference?
Parkinsonism Relat Disord, 19 (1), 120-2
PubMed 22726815

Pihlstrøm L, Axelsson G, Bjørnarå KA, Dizdar N, Fardell C, Forsgren L, Holmberg B, Larsen JP, Linder J, Nissbrandt H, Tysnes OB, Ohman E, Dietrichs E, Toft M (2012)
Supportive evidence for 11 loci from genome-wide association studies in Parkinson's disease
Neurobiol Aging, 34 (6), 1708.e7-13
PubMed 23153929

Publications 2011

Pihlstrøm L, Toft M (2011)
Genetic variability in SNCA and Parkinson's disease
Neurogenetics, 12 (4), 283-93
PubMed 21800132

Pihlstrøm L, Toft M (2011)
Parkinson's disease: What remains of the "missing heritability"?
Mov Disord, 26 (11), 1971-3
PubMed 21812035

Toft M (2011)
The Wilson films--MS tremor
Mov Disord, 26 (14), 2471-2
PubMed 22170271

Toft M (2011)
Dopaminergic Neurons Generated Directly From Human Fibroblasts
Mov. Disord., 26 (11), 1975

Toft M (2011)
International consortium identifies new genetic risk factors for Parkinson's disease
Mov Disord, 26 (4), 606
PubMed 21648125

Toft M, Dietrichs E (2011)
Aggravated stuttering following subthalamic deep brain stimulation in Parkinson's disease--two cases
BMC Neurol, 11, 44
PubMed 21477305

Toft M, Dietrichs E (2011)
Levodopa-responsive parkinsonism in probable extrapontine myelinolysis of the mesencephalon
Mov Disord, 26 (12), 2180-1
PubMed 22021157

Toft M, Lilleeng B, Ramm-Pettersen J, Skogseid IM, Gundersen V, Gerdts R, Pedersen L, Skjelland M, Røste GK, Dietrichs E (2011)
Long-term efficacy and mortality in Parkinson's disease patients treated with subthalamic stimulation
Mov Disord, 26 (10), 1931-4
PubMed 21656853

Publications 2010

Toft M, Ross OA (2010)
Copy number variation in Parkinson's disease
Genome Med, 2 (9), 62
PubMed 20828427

Aasly JO, Vilariño-Güell C, Dachsel JC, Webber PJ, West AB, Haugarvoll K, Johansen KK, Toft M, Nutt JG, Payami H, Kachergus JM, Lincoln SJ, Felic A, Wider C, Soto-Ortolaza AI, Cobb SA, White LR, Ross OA, Farrer MJ (2010)
Novel pathogenic LRRK2 p.Asn1437His substitution in familial Parkinson's disease
Mov Disord, 25 (13), 2156-63
PubMed 20669305

Publications 2008

Haugarvoll K, Toft M, Skipper L, Heckman MG, Crook JE, Soto A, Ross OA, Hulihan MM, Kachergus JM, Sando SB, White LR, Lynch T, Gibson JM, Uitti RJ, Wszolek ZK, Aasly JO, Farrer MJ (2008)
Fine-mapping and candidate gene investigation within the PARK10 locus
Eur J Hum Genet, 17 (3), 336-43
PubMed 18854859

Ross OA, Toft M, Haugarvoll K (2008)
Corticobasal syndrome and primary progressive aphasia as manifestations of lrrk2 gene mutations
Neurology, 71 (4), 303; author reply 303-4
PubMed 18645174

Toft M, Lilleeng B, Ramm-Pettersen J, Røste GK, Pedersen L, Skogseid IM, Dietrichs E (2008)
[Treatment of movement disorders with deep brain stimulation]
Tidsskr Nor Laegeforen, 128 (17), 1972-6
PubMed 18787575

Publications 2007

Haugarvoll K, Toft M, Ross OA, Stone JT, Heckman MG, White LR, Lynch T, Gibson JM, Wszolek ZK, Uitti RJ, Aasly JO, Farrer MJ (2007)
ELAVL4, PARK10, and the Celts
Mov Disord, 22 (4), 585-7
PubMed 17230446

Haugarvoll K, Toft M, Ross OA, White LR, Aasly JO, Farrer MJ (2007)
Variants in the LRRK1 gene and susceptibility to Parkinson's disease in Norway
Neurosci Lett, 416 (3), 299-301
PubMed 17324517

Toft M (2007)
A patient's journey - The reluctant patient: Parkinson's disease - A doctor's perspective
Br. Med. J., 335 (7627), 990

Toft M, Mata IF, Ross OA, Kachergus J, Hulihan MM, Haugarvoll K, Stone JT, Blazquez M, Gibson JM, Aasly JO, White LR, Lynch T, Adler CH, Gwinn-Hardy K, Farrer MJ (2007)
Pathogenicity of the Lrrk2 R1514Q substitution in Parkinson's disease
Mov Disord, 22 (3), 389-92
PubMed 17216639

White LR, Toft M, Kvam SN, Farrer MJ, Aasly JO (2007)
MAPK-pathway activity, Lrrk2 G2019S, and Parkinson's disease
J Neurosci Res, 85 (6), 1288-94
PubMed 17385669

Publications 2006

Dächsel JC, Ross OA, Mata IF, Kachergus J, Toft M, Cannon A, Baker M, Adamson J, Hutton M, Dickson DW, Farrer MJ (2006)
Lrrk2 G2019S substitution in frontotemporal lobar degeneration with ubiquitin-immunoreactive neuronal inclusions
Acta Neuropathol, 113 (5), 601-6
PubMed 17151837

Farrer MJ, Haugarvoll K, Ross OA, Stone JT, Milkovic NM, Cobb SA, Whittle AJ, Lincoln SJ, Hulihan MM, Heckman MG, White LR, Aasly JO, Gibson JM, Gosal D, Lynch T, Wszolek ZK, Uitti RJ, Toft M (2006)
Genomewide association, Parkinson disease, and PARK10
Am J Hum Genet, 78 (6), 1084-8; author reply 1092-4
PubMed 16685661

Papapetropoulos S, Singer C, Ross OA, Toft M, Johnson JL, Farrer MJ, Mash DC (2006)
Clinical heterogeneity of the LRRK2 G2019S mutation
Arch Neurol, 63 (9), 1242-6
PubMed 16966501

Ross OA, Toft M, Whittle AJ, Johnson JL, Papapetropoulos S, Mash DC, Litvan I, Gordon MF, Wszolek ZK, Farrer MJ, Dickson DW (2006)
Lrrk2 and Lewy body disease
Ann Neurol, 59 (2), 388-93
PubMed 16437559

Publications 2005

Biancalana V, Toft M, Le Ber I, Tison F, Scherrer E, Thibodeau S, Mandel JL, Brice A, Farrer MJ, Dürr A (2005)
FMR1 premutations associated with fragile X-associated tremor/ataxia syndrome in multiple system atrophy
Arch Neurol, 62 (6), 962-6
PubMed 15956167

Gosal D, Ross OA, Wiley J, Irvine GB, Johnston JA, Toft M, Mata IF, Kachergus J, Hulihan M, Taylor JP, Lincoln SJ, Farrer MJ, Lynch T, Mark Gibson J (2005)
Clinical traits of LRRK2-associated Parkinson's disease in Ireland: a link between familial and idiopathic PD
Parkinsonism Relat Disord, 11 (6), 349-52
PubMed 16102999

Haugen T, Toft M, Müller CR, Aasly J (2005)
[Malignant hyperthermia--a hereditary and potentially life-threatening condition]
Tidsskr Nor Laegeforen, 125 (20), 2792-4
PubMed 16244682

Kachergus J, Mata IF, Hulihan M, Taylor JP, Lincoln S, Aasly J, Gibson JM, Ross OA, Lynch T, Wiley J, Payami H, Nutt J, Maraganore DM, Czyzewski K, Styczynska M, Wszolek ZK, Farrer MJ, Toft M (2005)
Identification of a novel LRRK2 mutation linked to autosomal dominant parkinsonism: evidence of a common founder across European populations
Am J Hum Genet, 76 (4), 672-80
PubMed 15726496

Toft M, Farrer M (2005)
Premutation alleles and fragile X-associated tremor/ataxia syndrome
JAMA, 293 (3), 296; author reply 296-7
PubMed 15657320

Toft M, Mata IF, Kachergus JM, Ross OA, Farrer MJ (2005)
LRRK2 mutations and Parkinsonism
Lancet, 365 (9466), 1229-30
PubMed 15811454

Toft M, Sando SB, Melquist S, Ross OA, White LR, Aasly JO, Farrer MJ (2005)
LRRK2 mutations are not common in Alzheimer's disease
Mech Ageing Dev, 126 (11), 1201-5
PubMed 16087219

Toft M, Aasly J, Bisceglio G, Adler CH, Uitti RJ, Krygowska-Wajs A, Lynch T, Wszolek ZK, Farrer MJ (2005)
Parkinsonism, FXTAS, and FMR1 premutations
Mov Disord, 20 (2), 230-3
PubMed 15390127

Aasly JO, Toft M, Fernandez-Mata I, Kachergus J, Hulihan M, White LR, Farrer M (2005)
Clinical features of LRRK2-associated Parkinson's disease in central Norway
Ann Neurol, 57 (5), 762-5
PubMed 15852371

Publications 2004

Skipper L, Wilkes K, Toft M, Baker M, Lincoln S, Hulihan M, Ross OA, Hutton M, Aasly J, Farrer M (2004)
Linkage disequilibrium and association of MAPT H1 in Parkinson disease
Am J Hum Genet, 75 (4), 669-77
PubMed 15297935

Toft M, Aasly J (2004)
[The genetics of Parkinson disease]
Tidsskr Nor Laegeforen, 124 (7), 922-4
PubMed 15060636