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TABLE OF CONTENTS Volume 6, Number 2, April 2020 Neurology.org/NG Articles e397 Heterozygous STUB1 missense variants cause ataxia, cognitive decline, and STUB1 mislocalization D.-H. Chen, C. Latimer, M. Yagi, M.K. Ndugga-Kabuye, E. Heigham, S. Jayadev, J.S. Meabon, C.M. Gomez, C.D. Keene, D.G. Cook, W.H. Raskind, and T.D. Bird Open Access e398 ALS in Danish Registries: Heritability and links to psychiatric and cardiovascular disorders B.B. Trabjerg, F.C. Garton, W. van Rheenen, F. Fang, R.D. Henderson, P.B. Mortensen, E. Agerbo, and N.R. Wray Open Access e399 MYORG-related disease is associated with central pontine calcications and atypical parkinsonism V. Chelban, M. Carecchio, G. Rea, A. Bowirrat, S. Kirmani, L. Magistrelli, S. Efthymiou, L. Schottlaender, J. Vandrovcova, V. Salpietro, E. Salsano, D. Pareyson, L. Chiapparini, F. Jan, S. Ibrahim, F. Khan, Z. Qarnain, S. Groppa, N. Bajaj, B. Balint, K.P. Bhatia, A. Lees, P.J. Morrison, N.W. Wood, B. Garavaglia, and H. Houlden Open Access e401 Heritability of cervical spinal cord structure L. Solstrand Dahlberg, O. Viessmann, and C. Linnman Open Access e402 Mitochondrial diseases in North America: An analysis of the NAMDC Registry E. Barca, Y. Long, V. Cooley, R. Schoenaker, V. Emmanuele, S. DiMauro, B.H. Cohen, A. Karaa, G.D. Vladutiu, R. Haas, J.L.K. Van Hove, F. Scaglia, S. Parikh, J.K. Bedoyan, S.D. DeBrosse, R.H. Gavrilova, R.P. Saneto, G.M. Enns, P.W. Stacpoole, J. Ganesh, A. Larson, Z. Zolkipli-Cunningham, M.J. Falk, A.C. Goldstein, M. Tarnopolsky, A. Gropman, K. Camp, D. Krotoski, K. Engelstad, X.Q. Rosales, J. Kriger, J. Grier, R. Buchsbaum, J.L.P. Thompson, and M. Hirano Open Access e403 Characterization of the phenotype with cognitive impairment and protein mislocalization in SCA34 M. Beaudin, L. Sellami, C. Martel, L. Touzel-Deschˆ enes, G. Houle, L. Martineau, K. Lacroix, A. Lavall´ ee, N. Chrestian, G.A. Rouleau, F. Gros-Louis, R.J. Laforce, and N. Dupr´ e Open Access e404 Use of local genetic ancestry to assess TOMM40-5239 and risk for Alzheimer disease P.L. Bussies, F. Rajabli, A. Griswold, D.A. Dorfsman, P. Whitehead, L.D. Adams, P.R. Mena, M. Cuccaro, J.L. Haines, G.S. Byrd, G.W. Beecham, M.A. Pericak-Vance, J.I. Young, and J.M. Vance Open Access e405 Genetic testing utilization for patients with neurologic disease and the limitations of claims data S.J. Mackenzie, C.C. Lin, P.K. Todd, J.F. Burke, and B.C. Callaghan Open Access e406 Association of a structural variant within the SQSTM1 gene with amyotrophic lateral sclerosis J. Pytte, R.S. Anderton, L.L. Flynn, F. Theunissen, L. Jiang, I. Pitout, I. James, F.L. Mastaglia, A.M. Saunders, R. Bedlack, T. Siddique, N. Siddique, and P.A. Akkari Open Access e407 Novel EGR2 variant that associates with Charcot-Marie-Tooth disease when combined with lipopolysaccharide-induced TNF-α factor T49M polymorphism M.E. Blanco-Cant´ o, N. Patel, S. Velasco-Aviles, A. Casillas-Bajo, J. Salas-Felipe, A. Garc´ ıa-Escriv´ a, C. D´ ıaz-Mar´ ın, and H. Cabedo Open Access e408 Molecular diagnosis of muscular diseases in outpatient clinics: A Canadian perspective F. Thuriot, E. Gravel, C. Buote, M. Doyon, E. Lapointe, L. Marcoux, S. Larue, A. Nadeau, S. Ch´ enier, P.J. Waters, P.- ´ E. Jacques, S. Gravel, and S. L´ evesque e411 Hereditary cerebral amyloid angiopathy, Piedmont-type mutation M.G. Kozberg, S.J. van Veluw, M.P. Frosch, and S.M. Greenberg Open Access e412 Clinical utility of multigene analysis in over 25,000 patients with neuromuscular disorders T.L. Winder, C.A. Tan, S. Klemm, H. White, J.M. Westbrook, J.Z. Wang, A. Entezam, R. Truty, R.L. Nussbaum, E.M. McNally, and S. Aradhya Open Access Clinical/Scientific Notes e400 Gerstmann-Str¨ aussler-Scheinker disease (PRNP p.D202N) presenting with atypical parkinsonism S. Baiardi, R. Rizzi, S. Capellari, A. Bartoletti-Stella, A. Zangrandi, F. Gasparini, E. Ghidoni, and P. Parchi Open Access e409 4H leukodystrophy: Mild clinical phenotype and comorbidity with multiple sclerosis S.M. DeGasperis, G. Bernard, N.I. Wolf, E. Miller, and D. Pohl Open Access

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Page 1: TABLE OF CONTENTS Volume 6, Number 2, April 2020 Neurology ... · e410 Differential subcellular expression of P525LFUS as a putative biomarker for ALS phenoconversion M. Caputo,

TABLE OF CONTENTS Volume 6, Number 2, April 2020 Neurology.org/NG

Articles

e397 Heterozygous STUB1 missense variants cause ataxia,cognitive decline, and STUB1 mislocalizationD.-H. Chen, C. Latimer, M. Yagi, M.K. Ndugga-Kabuye, E. Heigham,S. Jayadev, J.S. Meabon, C.M. Gomez, C.D. Keene, D.G. Cook,W.H. Raskind, and T.D. Bird

Open Access

e398 ALS in Danish Registries: Heritability and links topsychiatric and cardiovascular disordersB.B. Trabjerg, F.C. Garton, W. van Rheenen, F. Fang,R.D. Henderson, P.B. Mortensen, E. Agerbo, and N.R. Wray

Open Access

e399 MYORG-related disease is associated with centralpontine calcifications and atypical parkinsonismV. Chelban, M. Carecchio, G. Rea, A. Bowirrat, S. Kirmani,L. Magistrelli, S. Efthymiou, L. Schottlaender, J. Vandrovcova,V. Salpietro, E. Salsano, D. Pareyson, L. Chiapparini, F. Jan,S. Ibrahim, F. Khan, Z. Qarnain, S. Groppa, N. Bajaj, B. Balint,K.P. Bhatia, A. Lees, P.J. Morrison, N.W. Wood, B. Garavaglia, andH. Houlden

Open Access

e401 Heritability of cervical spinal cord structureL. Solstrand Dahlberg, O. Viessmann, and C. Linnman

Open Access

e402 Mitochondrial diseases in North America: An analysisof the NAMDC RegistryE. Barca, Y. Long, V. Cooley, R. Schoenaker, V. Emmanuele, S. DiMauro,B.H. Cohen, A. Karaa, G.D. Vladutiu, R. Haas, J.L.K. Van Hove, F. Scaglia,S. Parikh, J.K. Bedoyan, S.D. DeBrosse, R.H. Gavrilova, R.P. Saneto,G.M.Enns,P.W.Stacpoole, J.Ganesh,A. Larson, Z. Zolkipli-Cunningham,M.J. Falk, A.C. Goldstein, M. Tarnopolsky, A. Gropman, K. Camp,D. Krotoski, K. Engelstad, X.Q. Rosales, J. Kriger, J. Grier, R. Buchsbaum,J.L.P. Thompson, and M. Hirano

Open Access

e403 Characterization of the phenotype with cognitiveimpairment and protein mislocalization in SCA34M. Beaudin, L. Sellami, C. Martel, L. Touzel-Deschenes, G. Houle,L. Martineau, K. Lacroix, A. Lavallee, N. Chrestian, G.A. Rouleau,F. Gros-Louis, R.J. Laforce, and N. Dupre

Open Access

e404 Use of local genetic ancestry to assess TOMM40-5239and risk for Alzheimer diseaseP.L. Bussies, F. Rajabli, A. Griswold, D.A. Dorfsman, P. Whitehead,L.D. Adams, P.R. Mena, M. Cuccaro, J.L. Haines, G.S. Byrd,G.W. Beecham, M.A. Pericak-Vance, J.I. Young, and J.M. Vance

Open Access

e405 Genetic testing utilization for patients with neurologicdisease and the limitations of claims dataS.J. Mackenzie, C.C. Lin, P.K. Todd, J.F. Burke, and B.C. Callaghan

Open Access

e406 Association of a structural variant within the SQSTM1gene with amyotrophic lateral sclerosisJ. Pytte, R.S. Anderton, L.L. Flynn, F. Theunissen, L. Jiang, I. Pitout,I. James, F.L. Mastaglia, A.M. Saunders, R. Bedlack, T. Siddique,N. Siddique, and P.A. Akkari

Open Access

e407 Novel EGR2 variant that associates withCharcot-Marie-Tooth disease when combined withlipopolysaccharide-induced TNF-α factorT49M polymorphismM.E. Blanco-Canto, N. Patel, S. Velasco-Aviles, A. Casillas-Bajo,J. Salas-Felipe, A. Garcıa-Escriva, C. Dıaz-Marın, and H. Cabedo

Open Access

e408 Molecular diagnosis ofmuscular diseases in outpatientclinics: A Canadian perspectiveF. Thuriot, E. Gravel, C. Buote, M. Doyon, E. Lapointe, L. Marcoux,S. Larue, A. Nadeau, S. Chenier, P.J. Waters, P.-E. Jacques,S. Gravel, and S. Levesque

e411 Hereditary cerebral amyloid angiopathy,Piedmont-type mutationM.G. Kozberg, S.J. van Veluw, M.P. Frosch, and S.M. Greenberg

Open Access

e412 Clinical utility of multigene analysis in over 25,000patients with neuromuscular disordersT.L.Winder, C.A. Tan, S. Klemm,H.White, J.M.Westbrook, J.Z.Wang,A. Entezam, R. Truty, R.L. Nussbaum, E.M. McNally, and S. Aradhya

Open Access

Clinical/Scientific Notes

e400 Gerstmann-Straussler-Scheinker disease (PRNPp.D202N) presenting with atypical parkinsonismS. Baiardi, R. Rizzi, S. Capellari, A. Bartoletti-Stella, A. Zangrandi,F. Gasparini, E. Ghidoni, and P. Parchi

Open Access

e409 4H leukodystrophy: Mild clinical phenotype andcomorbidity with multiple sclerosisS.M. DeGasperis, G. Bernard, N.I. Wolf, E. Miller, and D. Pohl

Open Access

Page 2: TABLE OF CONTENTS Volume 6, Number 2, April 2020 Neurology ... · e410 Differential subcellular expression of P525LFUS as a putative biomarker for ALS phenoconversion M. Caputo,

e410 Differential subcellular expression of P525LFUS asa putative biomarker for ALS phenoconversionM. Caputo, V. La Bella, and A. Notaro

Open Access

e413 Multisystem mitochondrial disease caused bya rare m.10038G>A mitochondrial tRNAGly

(MT-TG) variantO.V. Poole, A. Horga, S.A. Hardy, E. Bugiardini, C.E. Woodward,I.P. Hargreaves, A. Merve, R. Quinlivan, R.W. Taylor,M.G. Hanna, and R.D.S. Pitceathly

Open Access

Correction

e419 Heritability of cervical spinal cord structure

Cover imageFrom a high-resolution ex vivo MRI: 3D representation of corticalmicrobleeds and larger intracerebral hemorrhage location and insets withscans of the cortical surface.See e411

TABLE OF CONTENTS Volume 6, Number 2, April 2020 Neurology.org/NG

Page 3: TABLE OF CONTENTS Volume 6, Number 2, April 2020 Neurology ... · e410 Differential subcellular expression of P525LFUS as a putative biomarker for ALS phenoconversion M. Caputo,

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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Page 5: TABLE OF CONTENTS Volume 6, Number 2, April 2020 Neurology ... · e410 Differential subcellular expression of P525LFUS as a putative biomarker for ALS phenoconversion M. Caputo,

2020;6;1-13 Neurol Genet 6 (2)

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