table of contents volume 4, number 6, december 2018
TRANSCRIPT
TABLE OF CONTENTS Volume 4, Number 6, December 2018 Neurology.org/NG
Editorial
e299 The complex structure of ATXN2 genetic variationS.M. Pulst
Open Access Companion article, e283
Articles
e278 Anti-inflammatory effects of dietary vitamin D3 inpatients with multiple sclerosisR. Hashemi, M. Morshedi, M. Asghari Jafarabadi, D. Altafi,S. Saeed Hosseini-Asl, and S. Rafie-Arefhosseini
Open Access
e279 Novel genotype-phenotype and MRI correlations ina large cohort of patients with SPG7 mutationsC.A. Hewamadduma, N. Hoggard, R. O’Malley, M.K. Robinson,N.J. Beauchamp, R. Segamogaite, J. Martindale, T. Rodgers, G. Rao,P. Sarrigiannis, P. Shanmugarajah, P. Zis, B. Sharrack,C.J. McDermott, P.J. Shaw, and M. Hadjivassiliou
Open Access
e280 Molecular pathogenesis of human CD59 deficiencyN. Karbian, Y. Eshed-Eisenbach, A. Tabib, H. Hoizman, B.P. Morgan,O. Schueler-Furman, E. Peles, and D. Mevorach
Open Access
e281 Delineating FOXG1 syndrome: From congenitalmicrocephaly to hyperkinetic encephalopathyN. Vegas, M. Cavallin, C. Maillard, N. Boddaert, J. Toulouse,E. Schaefer, T. Lerman-Sagie, D. Lev, B. Magalie, S. Moutton,E. Haan, B. Isidor, D. Heron, M. Milh, S. Rondeau, C. Michot,S. Valence, S. Wagner, M. Hully, C. Mignot, A. Masurel, A. Datta,S. Odent, M. Nizon, L. Lazaro, M. Vincent, B. Cogne,A.M. Guerrot, S. Arpin, J.M. Pedespan, I. Caubel, B. Pontier,B. Troude, F. Rivier, C. Philippe, T. Bienvenu, M.-A. Spitz,A. Bery, and N. Bahi-Buisson
Open Access
e282 Identification of a new SYT2 variant validates anunusual distal motor neuropathy phenotypeN.I. Montes-Chinea, Z. Guan, M. Coutts, C. Vidal, S. Courel,A.P. Rebelo, L. Abreu, S. Zuchner, J.T. Littleton, andM.A. Saporta
Open Access
e285 TPP2 mutation associated with sterile braininflammation mimicking MSE.M. Reinthaler, E. Graf, T. Zrzavy, T. Wieland, C. Hotzy, C. Kopecky,S. Pferschy, C. Schmied, F. Leutmezer,M. Keilani, C.M. Lill, S. Hoffjan,J.T. Epplen, U.K. Zettl, M. Hecker, A. Deutschlander, S.G. Meuth,M. Ahram, B. Mustafa, M. El-Khateeb, C. Vilariño-Guell,A.D. Sadovnick, F. Zimprich, B. Tomkinson, T. Strom,W. Kristoferitsch, H. Lassmann, and A. Zimprich
Open Access
e286 Rare genetic variation implicated in non-Hispanicwhite families with Alzheimer diseaseG.W. Beecham, B. Vardarajan, E. Blue,W. Bush, J. Jaworski, S. Barral,A. DeStefano, K. Hamilton-Nelson, B. Kunkle, E.R. Martin, A. Naj,F. Rajabli, C. Reitz, T. Thornton, C. van Duijn, A. Goate, S. Seshadri,L.A. Farrer, E. Boerwinkle, G. Schellenberg, J.L. Haines, E. Wijsman,R. Mayeux, and M.A. Pericak-Vance, for The Alzheimer’s DiseaseSequencing Project
Open Access
e289 Mutation in POLR3K causes hypomyelinatingleukodystrophy and abnormal ribosomal RNAregulationI. Dorboz, H. Dumay-Odelot, K. Boussaid, Y. Bouyacoub, P. Barreau,S. Samaan, H. Jmel, E. Eymard-Pierre, C. Cances, C. Bar, A.-L. Poulat,C. Rousselle, F. Renaldo, M. Elmaleh- Berges, M. Teichmann, andO. Boespflug-Tanguy
Open Access
e290 Amyloid- and tau-PET imaging in a familial prionkindredD.T. Jones, R.A. Townley, J. Graff-Radford, H. Botha, D.S. Knopman,R.C. Petersen, C.R. Jack, Jr., V.J. Lowe, and B.F. Boeve
Open Access
Copyright ª 2018 American Academy of Neurology. Unauthorized reproduction of this article is prohibited.
e291 Copy number loss in SFMBT1 is commonamong Finnish and Norwegian patients withiNPHV.E. Korhonen, S. Helisalmi, A. Jokinen, I. Jokinen, J.-M. Lehtola,M. Oinas, K. Lonnrot, C. Avellan, A. Kotkansalo, J. Frantzen, J. Rinne,A. Ronkainen, M. Kauppinen, A. Junkkari, M. Hiltunen, H. Soininen,M. Kurki, J.E. Jaaskelainen, A.M. Koivisto, H. Sato, T. Kato,A.M. Remes, P.K. Eide, and V. Leinonen
Open Access
e292 Duplication and deletion upstream of LMNB1 inautosomal dominant adult-onset leukodystrophyN. Mezaki, T. Miura, K. Ogaki, M. Eriguchi, Y. Mizuno, K. Komatsu,H. Yamazaki, N. Suetsugu, S. Kawajiri, R. Yamasaki, T. Ishiguro,T. Konno, H. Nozaki, K. Kasuga, Y. Okuma, J.-I. Kira, H. Hara,O. Onodera, and T. Ikeuchi
Open Access
e293 Atrial fibrillation genetic risk differentiatescardioembolic stroke from other stroke subtypesS.L. Pulit, L.-C. Weng, P.F. McArdle, L. Trinquart, S.H. Choi,B.D. Mitchell, J. Rosand, P.I.W. de Bakker, E.J. Benjamin, P.T. Ellinor,S.J. Kittner, S.A. Lubitz, and C.D. Anderson, on behalf of the AtrialFibrillation Genetics Consortium and the International StrokeGenetics Consortium
Open Access
e294 Brain somatic mutations in SLC35A2 causeintractable epilepsy with aberrant N-glycosylationN.S. Sim, Y. Seo, J.S. Lim, W.K. Kim, H. Son, H.D. Kim, S. Kim, H.J. An,H.-C. Kang, S.H. Kim, D.-S. Kim, and J.H. Lee
Open Access
e295 Ataxia-telangiectasia-like disorder in a familydeficient for MRE11A, caused by a MRE11variantM. Sedghi, M. Salari, A.-R. Moslemi, A. Kariminejad, M. Davis,H. Goullee, B. Olsson, N. Laing, and H. Tajsharghi
Open Access Video
e296 Screening of novel restless legs syndrome–associatedgenes in French-Canadian familiesF. Akçimen, D. Spiegelman, A. Dionne-Laporte, Z. Gan-Or,P.A. Dion, and G.A. Rouleau
Open Access
e297 Development of a rapid functional assay thatpredicts GLUT1 disease severityS.M. Zaman, S.A. Mullen, S. Petrovski, S. Maljevic, E.V. Gazina,A.M. Phillips, G.D. Jones, M.S. Hildebrand, J. Damiano, S. Auvin,H. Lerche, Y.G. Weber, S.F. Berkovic, I.E. Scheffer, C.A. Reid, andS. Petrou
Open Access
e298 Leigh syndrome followed by parkinsonism in an adultwith homozygous c.626C>T mutation in MTFMTD.M. Hemelsoet, A.V. Vanlander, J. Smet, E. Vantroys, M. Acou,I. Goethals, T. Sante, S. Seneca, B. Menten, and R. Van Coster
Open Access
Clinical/Scientific Notes
e283 Homozygous 31 trinucleotide repeats in the SCA2allele are pathogenic for cerebellar ataxiaM. Tojima, G. Murakami, R. Hikawa, H. Yamakado, H. Yamashita,R. Takahashi, and M. Matsui
Open Access Editorial, e299
e284 Variable penetrance of Andersen-Tawil syndromein a family with a rare missense KCNJ2 mutationR. Deeb, A. Veerapandiyan, R. Tawil, and S. Treidler
Open Access
e287 A tropomyosin-receptor kinase-fused gene mutationassociates with vacuolar myopathyN.N.Madigan, J.A. Tracy,W.J. Litchy, Z.Niu,C.Chen,K. Ling, andM.Milone
Open Access
e288 Lysosomal dysfunction in TMEM106Bhypomyelinating leukodystrophyY. Ito, T. Hartley, S. Baird, S. Venkateswaran, C. Simons, N.I. Wolf,K.M. Boycott, D.A. Dyment, and K.D. Kernohan
Open Access
Correction
e300 Novel genotype-phenotype and MRI correlations ina large cohort of patients with SPG7 mutations
Cover imageDrosophila larval neuromuscular junctions stained for synaptotagmin(green) and neuronal membranes (blue). Mutations in humansynaptotagmin 2 disrupt synaptic transmission at neuromuscularjunctions.See e282
TABLE OF CONTENTS Volume 4, Number 6, December 2018 Neurology.org/NG
Copyright ª 2018 American Academy of Neurology. Unauthorized reproduction of this article is prohibited.
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