Association of blood-based transcriptional risk scores ... · Academy Officers JamesC.Stevens,MD,FAAN,President OrlyAvitzur, MD,MBA,FAAN,PresidentElect AnnH.Tilton,MD,FAAN,VicePresident

Volume 6, Number 6, December 2020Neurology.org/NG

A peer-reviewed clinical and translational neurology open access journal

ARTICLE

Association of blood-based transcriptional risk scores with biomarkers for Alzheimer disease e517

ARTICLE

Th e SPID-GBA study: Sex distribution, Penetrance, Incidence, and Dementia in GBA-PD e523

ARTICLE

Biotinidase defi ciency: A treatable cause of hereditary spastic paraparesis e525

ARTICLE

Practical guidelines to manage discordant situations of SMN2 copy number in patients with spinal muscular atrophy e530

Academy OfficersJames C. Stevens, MD, FAAN, PresidentOrly Avitzur, MD, MBA, FAAN, President ElectAnn H. Tilton, MD, FAAN, Vice PresidentCarlayne E. Jackson, MD, FAAN, SecretaryJanis M. Miyasaki, MD, MEd, FRCPC, FAAN, TreasurerRalph L. Sacco, MD, MS, FAAN, Past President

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A peer-reviewed clinical and translational neurology open access journal Neurology.org/NG

Neurology® Genetics

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TABLE OF CONTENTS Volume 6, Number 6, December, 2020 Neurology.org/NG

The Helix

e518 The Helix: Editorial ChangesS.M. Pulst

Articles

e517 Association of blood-based transcriptional risk scoreswith biomarkers for Alzheimer diseaseY.H. Park, A. Hodges, A. Simmons, S. Lovestone, M.W. Weiner,S.Y. Kim, A.J. Saykin, and K. Nho, For the AddNeuroMed consortiumand the Alzheimer’s Disease Neuroimaging Initiative

Open Access Class of Evidence

e519 Primary mitochondrial myopathy: Clinical featuresand outcome measures in 118 cases from ItalyV.Montano, F. Gruosso, V. Carelli, G.P. Comi,M. Filosto, C. Lamperti,T. Mongini, O. Musumeci, S. Servidei, P. Tonin, A. Toscano,A. Modenese, G. Primiano, M.L. Valentino, S. Bortolani, S. Marchet,M. Meneri, G. Tavilla, G. Siciliano, and M. Mancuso

Open Access

e520 Congenital immobility and stiffness related to biallelicATAD1 variantsR. Bunod, D. Doummar, S. Whalen, B. Keren, S. Chantot-Bastaraud,K. Maincent, M.-C. Villy, M. Mayer, D. Rodriguez, L. Burglen,P.-L. Leger, F. Kieffer, I. Martin, D. Heron, J. Buratti, A. Isapof,A. Afenjar, T. Billette de Villemeur, and C. Mignot

Open Access

e521 Neurodevelopmental regression, severe generalizeddystonia, and metabolic acidosis caused byPOLR3A mutationsV. Zanette, A. Reyes, M. Johnson, D. do Valle, A.J. Robinson,V. Monteiro, B.A. Telles, R.L.R. Souza, M.L.S.F. Santos,C. Beninca, and M. Zeviani

Open Access

e523 The SPID-GBA study: Sex distribution, Penetrance,Incidence, and Dementia in GBA-PDL. Straniero, R. Asselta, S. Bonvegna, V. Rimoldi, G. Melistaccio,G. Solda, M. Aureli, M. Della Porta, U. Lucca, A. Di Fonzo,A. Zecchinelli, G. Pezzoli, R. Cilia, and S. Duga

Open Access

e524 POLR1C variants dysregulate splicing and causehypomyelinating leukodystrophyH. Kashiki, H. Li, S. Miyamoto, H. Ueno, Y. Tsurusaki, C. Ikeda,H. Kurata, T. Okada, T. Shimazu, H. Imamura, Y. Enomoto,J. Takanashi, K. Kurosawa, H. Saitsu, and K. Inoue

Open Access

e525 Biotinidase deficiency: A treatable cause of hereditaryspastic paraparesisF. Radelfahr, K.M. Riedhammer, L.F. Keidel, G. Gramer, T.Meitinger,T. Klopstock, and M. Wagner

Open Access

e526 Heterozygous variants in DCC: Beyond congenitalmirror movementsS. Thams,M. Islam,M. Lindefeldt, A. Nordgren, T. Granberg, B. Tesi,G. Barbany, D. Nilsson, and M. Paucar

Open Access

e528 Genotype-phenotype correlations in patients with denovo KCNQ2 pathogenic variantsF. Malerba, G. Alberini, G. Balagura, F. Marchese, E. Amadori,A. Riva, M.S. Vari, E. Gennaro, F. Madia, V. Salpietro,M. Angriman, L. Giordano, P. Accorsi, M. Trivisano, N. Specchio,A. Russo, G. Gobbi, F. Raviglione, T. Pisano, C. Marini,M.M. Mancardi, L. Nobili, E. Freri, B. Castellotti, G. Capovilla,A. Coppola, A. Verrotti, P. Martelli, F. Miceli, L. Maragliano,F. Benfenati, M.R. Cilio, K.M. Johannesen, R.S. Møller,B. Ceulemans, C. Minetti, S. Weckhuysen, F. Zara,M. Taglialatela, and P. Striano

Open Access

e530 Practical guidelines to manage discordant situationsof SMN2 copy number in patients with spinalmuscular atrophyI. Cusco, S. Bernal, L. Blasco-Perez, M. Calucho, L. Alias,P. Fuentes-Prior, and E.F. Tizzano

Open Access

e534 New recessive mutations in SYT2 causing severepresynaptic congenital myasthenic syndromesS. Bauche, A. Sureau, D. Sternberg, J. Rendu, C. Buon,J. Messeant, M. Boex, D. Furling, J. Faure, X. Latypova, A.B. Gelot,M. Mayer, P. Mary, S. Whalen, E. Fournier, I. Cloix, G. Remerand,F. Laffargue, M.-C. Nougues, B. Fontaine, B. Eymard,A. Isapof, and L. Strochlic

Open Access

Clinical/Scientific Notes

e522 Blended phenotype of adult-onset Alexander diseaseand spinocerebellar ataxia type 6T. Odo, T. Okamoto, N. Sato, and Y. Takahashi

Open Access

e527 Cerebrospinal fluid abnormalities in developmentaland epileptic encephalopathy with a de novoCDK19 variantY. Sugawara, T. Mizuno, K. Moriyama, H. Ishiwata, M. Kato,M. Nakashima, T. Mizuguchi, and N. Matsumoto

Open Access

e531 Neuronal intranuclear inclusion disease presentingwith an MELAS-like episode in chronicpolyneuropathyT. Ishihara, T. Okamoto, K. Saida, Y. Saitoh, S. Oda, T. Sano,T. Yoshida, Y. Morita, A. Fujita, H. Fukuda, N. Miyake, T. Mizuguchi,Y. Saito, Y. Sekijima, N. Matsumoto, and Y. Takahashi

Open Access

Copyright ª 2020 American Academy of Neurology. Unauthorized reproduction of this article is prohibited.

e532 Herpes simplex virus 2 encephalitis in a patientheterozygous for a TLR3 mutationT. Hautala, J. Chen, L. Tervonen, T. Partanen, S. Winqvist,J. Lehtonen, J. Saarela, M. Kraatari, O. Kuismin, T. Vuorinen,V. Glumoff, P. Astrom, U. Huuskonen, L. Lorenzo, J.-L. Casanova,S.-Y. Zhang, and M.R.J. Seppanen

Open Access

e533 Ketogenic diet reduces Lafora bodies in murineLafora diseaseL. Israelian, P. Wang, S. Gabrielian, X. Zhao, and B.A. Minassian

Open Access

Cover imageHeatmaps of gene expression between cognitively normal older adults(yellowbar) and patients with Alzheimer disease (purple bar). Stylized byKaitlyn Aman Ramm, Digital Multimedia/Graphics Coordinator.See e517

TABLE OF CONTENTS Volume 6, Number 6, December, 2020 Neurology.org/NG

Copyright ª 2020 American Academy of Neurology. Unauthorized reproduction of this article is prohibited.

2020;6; Neurol Genet 6 (6)

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