The prodromal phase of hereditary spastic paraplegia type 4: the preSPG4 cohort study.
Rattay TW, Völker M, Rautenberg M, Kessler C, Wurster I, Winter N, Haack TB, Lindig T, Hengel H, Synofzik M, Schüle R, Martus P, Schöls L.
Brain. 2023 Mar 1;146(3):1093-1102. doi: 10.1093/brain/awac155.
PMID: 35472722
Expanding the natural history of CASK-related disorders to the prenatal period.
Gafner M, Boltshauser E, D’Abrusco F, Battini R, Romaniello R, D’Arrigo S, Zanni G, Leibovitz Z, Yosovich K, Lerman-Sagie T; Cask Study Group*.
Dev Med Child Neurol. 2023 Apr;65(4):544-550. doi: 10.1111/dmcn.15419. Epub 2022 Sep 29.
PMID: 36175354
Dystonia management across Europe within ERN-RND: current state and future challenges.
Centen LM, Pinter D, van Egmond ME, Graessner H, Kovacs N, Koy A, Perez-Dueñas B, Reinhard C, Tijssen MAJ, Boesch S.
J Neurol. 2023 Feb;270(2):797-809. doi: 10.1007/s00415-022-11412-4. Epub 2022 Oct 6.
PMID: 36201015 Free PMC article.
The frequency of non-motor symptoms in SCA3 and their association with disease severity and lifestyle factors.
Hengel H, Martus P, Faber J, Giunit P, Garcia-Moreno H, Solanky N, Klockgether T, Reetz K, van de Warrenburg BP, Santana MM, Silva P, Cunha I, de Almeida LP, Timmann D, Infante J, de Vries J, Lima M, Pires P, Bushara K, Jacobi H, Onyike C, Schmahmann JD, Hübener-Schmid J, Synofzik M; European Spinocerebellar Ataxia Type-3/Machado-Joseph Disease Initiative (ESMI) Study Group; Schöls L.
J Neurol. 2023 Feb;270(2):944-952. doi: 10.1007/s00415-022-11441-z. Epub 2022 Nov 2.
PMID: 36324033 Free PMC article.
Temporal dynamics predict symptom onset and cognitive decline in familial frontotemporal dementia.
Whiteside DJ, Malpetti M, Jones PS, Ghosh BCP, Coyle-Gilchrist I, van Swieten JC, Seelaar H, Jiskoot L, Borroni B, Sanchez-Valle R, Moreno F, Laforce R, Graff C, Synofzik M, Galimberti D, Masellis M, Tartaglia MC, Finger E, Vandenberghe R, de Mendonça A, Tagliavini F, Butler CR, Santana I, Ber IL, Gerhard A, Ducharme S, Levin J, Danek A, Otto M, Sorbi S, Pasquier F, Bouzigues A, Russell LL, Rohrer JD, Rowe JB, Rittman T; GENFI consortium.
Alzheimers Dement. 2023 May;19(5):1947-1962. doi: 10.1002/alz.12824. Epub 2022 Nov 15.
PMID: 36377606 Free PMC article.
Motor symptoms in genetic frontotemporal dementia: developing a new module for clinical rating scales.
Samra K, MacDougall AM, Peakman G, Bouzigues A, Bocchetta M, Cash DM, Greaves CV, Convery RS, van Swieten JC, Jiskoot L, Seelaar H, Moreno F, Sanchez-Valle R, Laforce R, Graff C, Masellis M, Tartaglia C, Rowe JB, Borroni B, Finger E, Synofzik M, Galimberti D, Vandenberghe R, de Mendonça A, Butler CR, Gerhard A, Ducharme S, Le Ber I, Tiraboschi P, Santana I, Pasquier F, Levin J, Otto M, Sorbi S, Rohrer JD, Russell LL; Genetic FTD Initiative (GENFI).
J Neurol. 2023 Mar;270(3):1466-1477. doi: 10.1007/s00415-022-11442-y. Epub 2022 Nov 17.
PMID: 36385202 Free PMC article.
Loss of brainstem white matter predicts onset and motor neuron symptoms in C9orf72 expansion carriers: a GENFI study.
Pérez-Millan A, Borrego-Écija S, van Swieten JC, Jiskoot L, Moreno F, Laforce R, Graff C, Masellis M, Tartaglia MC, Rowe JB, Borroni B, Finger E, Synofzik M, Galimberti D, Vandenberghe R, de Mendonça A, Butler CR, Gerhard A, Ducharme S, Le Ber I, Santana I, Pasquier F, Levin J, Otto M, Sorbi S, Tiraboschi P, Seelaar H, Langheinrich T, Rohrer JD, Sala-Llonch R, Sánchez-Valle R; Genetic FTD Initiative, GENFI.
J Neurol. 2023 Mar;270(3):1573-1586. doi: 10.1007/s00415-022-11435-x. Epub 2022 Nov 29.
PMID: 36443488
Neurodevelopmental effects of genetic frontotemporal dementia in young adult mutation carriers.
Finger E, Malik R, Bocchetta M, Coleman K, Graff C, Borroni B, Masellis M, Laforce R, Greaves CV, Russell LL, Convery RS, Bouzigues A, Cash DM, Otto M, Synofzik M, Rowe JB, Galimberti D, Tiraboschi P, Bartha R, Shoesmith C, Tartaglia MC, van Swieten JC, Seelaar H, Jiskoot LC, Sorbi S, Butler CR, Gerhard A, Sanchez-Valle R, de Mendonça A, Moreno F, Vandenberghe R, Le Ber I, Levin J, Pasquier F, Santana I, Rohrer JD, Ducharme S; Genetic FTD Initiative, GENFI.
Brain. 2023 May 2;146(5):2120-2131. doi: 10.1093/brain/awac446.
PMID: 36458975
Language impairment in the genetic forms of behavioural variant frontotemporal dementia.
Samra K, MacDougall AM, Bouzigues A, Bocchetta M, Cash DM, Greaves CV, Convery RS, van Swieten JC, Seelaar H, Jiskoot L, Moreno F, Sanchez-Valle R, Laforce R, Graff C, Masellis M, Tartaglia MC, Rowe JB, Borroni B, Finger E, Synofzik M, Galimberti D, Vandenberghe R, de Mendonça A, Butler CR, Gerhard A, Ducharme S, Le Ber I, Tiraboschi P, Santana I, Pasquier F, Levin J, Otto M, Sorbi S, Rohrer JD, Russell LL; Genetic FTD Initiative (GENFI).
J Neurol. 2023 Apr;270(4):1976-1988. doi: 10.1007/s00415-022-11512-1. Epub 2022 Dec 20.
PMID: 36538154 Free PMC article.
Cerebellar and subcortical atrophy contribute to psychiatric symptoms in frontotemporal dementia.
Bussy A, Levy JP, Best T, Patel R, Cupo L, Van Langenhove T, Nielsen JE, Pijnenburg Y, Waldö ML, Remes AM, Schroeter ML, Santana I, Pasquier F, Otto M, Danek A, Levin J, Le Ber I, Vandenberghe R, Synofzik M, Moreno F, de Mendonça A, Sanchez-Valle R, Laforce R, Langheinrich T, Gerhard A, Graff C, Butler CR, Sorbi S, Jiskoot L, Seelaar H, van Swieten JC, Finger E, Tartaglia MC, Masellis M, Tiraboschi P, Galimberti D, Borroni B, Rowe JB, Bocchetta M, Rohrer JD, Devenyi GA, Chakravarty MM, Ducharme S; GENetic Frontotemporal dementia Initiative (GENFI).
Hum Brain Mapp. 2023 May;44(7):2684-2700. doi: 10.1002/hbm.26220. Epub 2023 Mar 9.
PMID: 36895129 Free PMC article.
Early neurotransmitters changes in prodromal frontotemporal dementia: A GENFI study.
Premi E, Pengo M, Mattioli I, Cantoni V, Dukart J, Gasparotti R, Buratti E, Padovani A, Bocchetta M, Todd EG, Bouzigues A, Cash DM, Convery RS, Russell LL, Foster P, Thomas DL, van Swieten JC, Jiskoot LC, Seelaar H, Galimberti D, Sanchez-Valle R, Laforce R Jr, Moreno F, Synofzik M, Graff C, Masellis M, Tartaglia MC, Rowe JB, Tsvetanov KA, Vandenberghe R, Finger E, Tiraboschi P, de Mendonça A, Santana I, Butler CR, Ducharme S, Gerhard A, Levin J, Otto M, Sorbi S, Le Ber I, Pasquier F, Rohrer JD, Borroni B; Genetic Frontotemporal dementia Initiative (GENFI).
Neurobiol Dis. 2023 Apr;179:106068. doi: 10.1016/j.nbd.2023.106068. Epub 2023 Mar 8.
PMID: 36898614