table of contents · table of contents neurology.org/ng online issn: 2376-7839 volume 2, number 1,...

4
Table of Contents Neurology.org/ng Online ISSN: 2376-7839 Volume 2, Number 1, February 2016 THE HELIX e52 Genetics of neurodegenerative diseases S.M. Pulst ARTICLES e44 Overlap between Parkinson disease and Alzheimer disease in ABCA7 functional variants K. Nuytemans, L. Maldonado, A. Ali, K. John-Williams, G.W. Beecham, E. Martin, W.K. Scott, and J.M. Vance e45 X-inactivation in the clinical phenotype of fragile X premutation carrier sisters D.A. Hall, E.E. Robertson-Dick, J.A. OKeefe, A.G. Hadd, L. Zhou, and E. Berry-Kravis e41 Segregation of a rare TTC3 variant in an extended family with late-onset Alzheimer disease M.A. Kohli, H.N. Cukier, K.L. Hamilton-Nelson, S. Rolati, B.W. Kunkle, P.L. Whitehead, S.L. Züchner, L.A. Farrer, E.R. Martin, G.W. Beecham, J.L. Haines, J.M. Vance, M.L. Cuccaro, J.R. Gilbert, G.D. Schellenberg, R.M. Carney, and M.A. Pericak-Vance e46 Dysfunctional ADAM22 implicated in progressive encephalopathy with cortical atrophy and epilepsy M. Muona, Y. Fukata, A.-K. Anttonen, A. Laari, A. Palotie, H. Pihko, T. Lönnqvist, L. Valanne, M. Somer, M. Fukata, and A.-E. Lehesjoki e48 Atypical parkinsonism caused by Pro105Leu mutation of prion protein: A broad clinical spectrum K.K. Mano, T. Matsukawa, J. Mitsui, H. Ishiura, S.-i. Tokushige, Y. Takahashi, N.S. Sato, F.K. Nakamoto, Y. Ichikawa, Y. Nagashima, Y. Terao, J. Shimizu, M. Hamada, Y. Uesaka, G. Oyama, G. Ogawa, J. Yoshimura, K. Doi, S. Morishita, S. Tsuji, and J. Goto e50 Tubular aggregate myopathy caused by a novel mutation in the cytoplasmic domain of STIM1 H. Okuma, F. Saito, J. Mitsui, Y. Hara, Y. Hatanaka, M. Ikeda, T. Shimizu, K. Matsumura, J. Shimizu, S. Tsuji, and M. Sonoo e51 In silico prioritization based on coexpression can aid epileptic encephalopathy gene discovery K.L. Oliver, V. Lukic, S. Freytag, I.E. Scheffer, S.F. Berkovic, and M. Bahlo CLINICAL/SCIENTIFIC NOTES e38 Late diagnosis of cerebral folate deciency: Fewer seizures with folinic acid in adult siblings P. Ferreira, S.M. Luco, S.L. Sawyer, J. Davila, K.M. Boycott, and D.A. Dyment, on behalf of the Care4Rare Canada Consortium e43 Co-occurrence of 16p13.11 microdeletion and ring chromosome 20 syndrome L.H. Rodan, M. Zak, J. Stavropoulos, A.M. Joseph-George, and B.A. Minassian e47 White matter lesions in FTLD: Distinct phenotypes characterize GRN and C9ORF72 mutations F. Ameur, O. Colliot, P. Caroppo, S. Ströer, D. Dormont, A. Brice, C. Azuar, B. Dubois, I. Le Ber, and A. Bertrand e40 Benign hereditary chorea related to NKX2-1 with ataxia and dystonia C.M. de Gusmao, F. Kok, E.B. Casella, and J.L. Waugh e42 Polyneuropathy in a young Belgian patient: A novel heterozygous mutation in the WNK1/HSN2 gene J. de Filette, D. Hasaerts, S. Seneca, A. Gheldof, K. Stouffs, K. Keymolen, and B. Velkeniers e49 Expanding the ataxia with oculomotor apraxia type 4 phenotype M. Paucar, H. Malmgren, M. Taylor, J.J. Reynolds, P. Svenningsson, R. Press, and A. Nordgren Podcast Video LOE classication LOE recommendation tinyurl.com/NeurologyNG twitter.com/GreenJournal Cover image: C2C12 myoblasts were transfected with wild-type and the CTID mutant STIM1 identied in a patient with tubular aggregate myopathy, and labeled with anti-STIM1 antibody, phalloidin, and DAPI. See Tubular aggregate myopathy caused by a novel mutation in the cytoplasmic domain of STIM1.ª 2016 American Academy of Neurology. Unauthorized reproduction of this article is prohibited.

Upload: others

Post on 20-Jul-2020

2 views

Category:

Documents


0 download

TRANSCRIPT

Page 1: Table of Contents · Table of Contents Neurology.org/ng Online ISSN: 2376-7839 Volume 2, Number 1, February 2016 THE HELIX e52 Genetics of neurodegenerative diseases

Table of ContentsNeurology.org/ng � Online ISSN: 2376-7839Volume 2, Number 1, February 2016

THE HELIX

e52 Genetics of neurodegenerative diseases

S.M. Pulst

ARTICLES

e44 Overlap between Parkinson disease and Alzheimer disease in

ABCA7 functional variants

K. Nuytemans, L. Maldonado, A. Ali, K. John-Williams,

G.W. Beecham, E. Martin, W.K. Scott, and J.M. Vance

e45 X-inactivation in the clinical phenotype of fragile X

premutation carrier sisters

D.A. Hall, E.E. Robertson-Dick, J.A. O’Keefe, A.G. Hadd,

L. Zhou, and E. Berry-Kravis

e41 Segregation of a rare TTC3 variant in an extended family

with late-onset Alzheimer disease

M.A. Kohli, H.N. Cukier, K.L. Hamilton-Nelson, S. Rolati,

B.W. Kunkle, P.L. Whitehead, S.L. Züchner, L.A. Farrer,

E.R. Martin, G.W. Beecham, J.L. Haines, J.M. Vance,

M.L. Cuccaro, J.R. Gilbert, G.D. Schellenberg, R.M. Carney, and

M.A. Pericak-Vance

e46 Dysfunctional ADAM22 implicated in progressive

encephalopathy with cortical atrophy and epilepsy

M. Muona, Y. Fukata, A.-K. Anttonen, A. Laari, A. Palotie,

H. Pihko, T. Lönnqvist, L. Valanne, M. Somer, M. Fukata, and

A.-E. Lehesjoki

e48 Atypical parkinsonism caused by Pro105Leu mutation of

prion protein: A broad clinical spectrum

K.K. Mano, T. Matsukawa, J. Mitsui, H. Ishiura, S.-i. Tokushige,

Y. Takahashi, N.S. Sato, F.K. Nakamoto, Y. Ichikawa,

Y. Nagashima, Y. Terao, J. Shimizu, M. Hamada, Y. Uesaka,

G. Oyama, G. Ogawa, J. Yoshimura, K. Doi, S. Morishita, S. Tsuji,

and J. Goto

e50 Tubular aggregate myopathy caused by a novel mutation in

the cytoplasmic domain of STIM1

H. Okuma, F. Saito, J. Mitsui, Y. Hara, Y. Hatanaka, M. Ikeda,

T. Shimizu, K. Matsumura, J. Shimizu, S. Tsuji, and M. Sonoo

e51 In silico prioritization based on coexpression can aid epileptic

encephalopathy gene discovery

K.L.Oliver,V.Lukic,S.Freytag, I.E.Scheffer,S.F.Berkovic,andM.Bahlo

CLINICAL/SCIENTIFIC NOTES

e38 Late diagnosis of cerebral folate deficiency: Fewer seizures

with folinic acid in adult siblings

P. Ferreira, S.M. Luco, S.L. Sawyer, J. Davila, K.M. Boycott, and

D.A. Dyment, on behalf of the Care4Rare Canada Consortium

e43 Co-occurrence of 16p13.11 microdeletion and ring chromosome

20 syndrome

L.H. Rodan, M. Zak, J. Stavropoulos, A.M. Joseph-George, and

B.A. Minassian

e47 White matter lesions in FTLD: Distinct phenotypes

characterize GRN and C9ORF72 mutations

F. Ameur, O. Colliot, P. Caroppo, S. Ströer, D. Dormont,

A. Brice, C. Azuar, B. Dubois, I. Le Ber, and A. Bertrand

e40 Benign hereditary chorea related toNKX2-1with ataxia and dystonia

C.M. de Gusmao, F. Kok, E.B. Casella, and J.L. Waugh

e42 Polyneuropathy in a young Belgian patient: A novel heterozygous

mutation in the WNK1/HSN2 gene

J. de Filette, D. Hasaerts, S. Seneca, A. Gheldof, K. Stouffs,

K. Keymolen, and B. Velkeniers

e49 Expanding the ataxia with oculomotor apraxia type 4 phenotype

M. Paucar, H. Malmgren, M. Taylor, J.J. Reynolds,

P. Svenningsson, R. Press, and A. Nordgren

Podcast Video LOE classification LOE recommendation

tinyurl.com/NeurologyNG twitter.com/GreenJournal

Cover image: C2C12 myoblasts were transfected with wild-type and the CTID mutant STIM1 identified ina patient with tubular aggregate myopathy, and labeled with anti-STIM1 antibody, phalloidin, and DAPI.See “Tubular aggregate myopathy caused by a novel mutation in the cytoplasmic domain of STIM1.”

ª 2016 American Academy of Neurology. Unauthorized reproduction of this article is prohibited.

Page 2: Table of Contents · Table of Contents Neurology.org/ng Online ISSN: 2376-7839 Volume 2, Number 1, February 2016 THE HELIX e52 Genetics of neurodegenerative diseases

Neurology.org/ng � Online ISSN: 2376-7839Volume 2, Number 1, February 2016

VISION: Neurology® Genetics will be the premier peer-reviewedjournal in the field of neurogenetics.

MISSION: Neurology: Genetics will provide neurologists withoutstanding original contributions that elucidate the role ofgenetic and epigenetic variation in diseases and biological traitsof the central and peripheral nervous systems.

EditorNeurology: GeneticsStefan M. Pulst, MD, Dr med, FAANProfessor and Chair, Department of NeurologyUniversity of UtahSalt Lake City, [email protected]: Genetics, movement disorders

Editor-in-ChiefNeurology®Robert A. Gross, MD, PhD, FAANProfessor of Neurology and of Pharmacology and PhysiologyStrong Epilepsy CenterUniversity of Rochester Medical CenterRochester, [email protected]

Deputy EditorsNeurologyBradford B. Worrall, MD, MSc, FAANProfessor of Neurology and Public Health SciencesUniversity of VirginiaCharlottesville, VA

Neurology: GeneticsNicholas Elwood Johnson, MDUniversity of UtahSalt Lake City, UTSpecialties: Muscle diseases, patient-centered outcomes

Associate EditorsNeurology: GeneticsAlexandra Durr, MD, PhDHôpital de la SalpêtrièreParis, FranceSpecialties: Spastic paraplegia, Huntington disease, ataxia

Massimo Pandolfo, MD, FAANHôpital ErasmeUniversité Libre de BruxellesBrussels, BelgiumSpecialties: Epilepsy, Friedreich ataxia, stem cells

Raymond P. Roos, MD, FAANUniversity of Chicago Medical CenterChicago, ILSpecialties: Motor neuron disease, prion disease, neurovirology/neuroimmunology

Jeffery M. Vance, MD, PhDUniversity of MiamiMiami, FLSpecialties: Parkinson, Alzheimer disease, inherited neuropathies

Level of Evidence Review TeamMelissa J. Armstrong, MD, Baltimore, MDRichard L. Barbano, MD, PhD, FAAN, Rochester, NYRichard M. Dubinsky, MD, MPH, FAAN, Kansas City, KSJeffrey J. Fletcher, MD, MSc, Ann Arbor, MIGary M. Franklin, MD, MPH, FAAN, Seattle, WADavid S. Gloss II, MD, MPH&TM, Danville, PAJohn J. Halperin, MD, FAAN, Summit, NJJason Lazarou, MSc, MD, Toronto, Ontario, CanadaSteven R. Messé, MD, FAAN, Philadelphia, PAPushpa Narayanaswami, MBBS, DM, FAAN, Boston, MAAlex Rae-Grant, MD, Cleveland, OH

Editorial InquiriesTel: 612-928-6400Toll-free: 800-957-3182 (US)Fax: [email protected]

Academy OfficersTerrence L. Cascino, MD, FAAN, PresidentRalph L. Sacco, MD, MS, FAAN, President ElectJames C. Stevens, MD, FAAN, Vice PresidentAaron E. Miller, MD, FAAN, SecretaryLisa M. Shulman, MD, FAAN, TreasurerTimothy A. Pedley, MD, FAAN, Past President

Executive Office, American Academy of NeurologyCatherine M. Rydell, CAE, Executive Director/CEO201 Chicago AveMinneapolis, MN 55415Tel: 612-928-6100

Editorial OfficePatricia K. Baskin, MS, Executive EditorKathleen M. Pieper, Managing Editor, NeurologyLee Ann Kleffman, Managing Editor, Neurology: GeneticsSandra A. Moriarity, Senior Production EditorSharon L. Quimby, Managing Editor, Neurology® Clinical PracticeMorgan S. Sorenson, Managing Editor, Neurology® Neuroimmunology &

NeuroinflammationCynthia S. Abair, MA, Senior Graphics EditorRobert J. Witherow, Senior Editorial AssociateKaren Skaja, Editorial AssociateAndrea R. Rahkola, Editorial AssistantKaitlyn Aman Ramm, Editorial AssistantKristen Swendsrud, Editorial Assistant

PublisherWolters KluwerBaltimore, MD

Publishing StaffKim Jansen, Executive PublisherAlexandra Lazerow, Production Team Leader, AAN JournalsSteve Rose, Editorial AssistantStacy Drossner, Production Associate

ª 2016 American Academy of Neurology. Unauthorized reproduction of this article is prohibited.

Page 3: Table of Contents · Table of Contents Neurology.org/ng Online ISSN: 2376-7839 Volume 2, Number 1, February 2016 THE HELIX e52 Genetics of neurodegenerative diseases

Neurology.org/ng � Online ISSN: 2376-7839Volume 2, Number 1, February 2016

Publication InformationNeurology® is a registered trademark of the American Academy of Neurology (registration valid in the United States).

Neurology® Genetics (eISSN 2376-7839) is an open access journal published online for the American Academy of Neurology, 201 Chicago Ave,Minneapolis, MN 55415, by Wolters Kluwer, 16522 Hunters Green Parkway, Hagerstown, MD 21740-2116. Business offices are located at TwoCommerce Square, 2001 Market St., Philadelphia, PA 19103. Production offices are located at 351 West Camden Street, Baltimore, MD 21201-2436. © 2016 American Academy of Neurology.

Neurology® Genetics is an official journal of the American Academy of Neurology. Journal website: Neurology.org/ng, AAN website: AAN.com

Copyright and Permission Information: Please go to the journal website (www.neurology.org/ng) and click the “©Request Permissions” iconfor the relevant article. Alternatively, send an email to [email protected]. General information about permissions can befound here: http://www.lww.com/webapp/wcs/stores/servlet/content_resources_permissions-journals_11851_-1_12551.

Translation Rights & Licensing queries: Silvia Serra, Global Director of Rights, Licensing, Permissions, Wolters Kluwer Citi Building, 25 CanadaSquare, E14 5LB, England, UK. tel: 144-(0)203-1976643; [email protected].

Disclaimer:Opinions expressed by the authors and advertisers are not necessarily those of the American Academy of Neurology, its affiliates, orof the Publisher. The American Academy of Neurology, its affiliates, and the Publisher disclaim any liability to any party for the accuracy,completeness, efficacy, or availability of the material contained in this publication (including drug dosages) or for any damages arising out of theuse or non-use of any of the material contained in this publication.

Advertising Sales Representatives: Wolters Kluwer, 333 Seventh Avenue, New York, NY 10001. Contacts: Eileen Henry, tel: 732-778-2261, fax:973-215-2485, [email protected] and Valentin Torres, tel: 646-674-6354, cell: 646-628-4530, fax: 917-677-8420, [email protected]. In Europe: Avia Potashnik, Wolters Kluwer, tel: 144 207 981 0722; 144 7919 397 933 or e-mail: [email protected].

Careers & Events: Ryan Magee, Wolters Kluwer, Two Commerce Square, 2001 Market Street, Philadelphia, PA 19103, tel: 215-521-8804,fax: 215-521-8801; [email protected].

Reprints:Meredith Edelman, Commercial Reprint Sales,Wolters Kluwer, TwoCommerce Square, 2001Market Street, Philadelphia, PA 19103, tel:215-555-1212 (office), 215-356-2721 (mobile); [email protected]; [email protected].

Special projects: US & Canada: Alan Moore, Wolters Kluwer, Two Commerce Square, 2001 Market Street, Philadelphia, PA 19103, tel:215-521-8638, [email protected]. International: Silvia Serra, Global Director of Rights, Licensing, Permissions, WoltersKluwer Citi Building, 25 Canada Square, E14 5LB, England, UK. tel: 144-(0)203-1976643; [email protected].

ª 2016 American Academy of Neurology. Unauthorized reproduction of this article is prohibited.

Page 4: Table of Contents · Table of Contents Neurology.org/ng Online ISSN: 2376-7839 Volume 2, Number 1, February 2016 THE HELIX e52 Genetics of neurodegenerative diseases

2016;2; Neurol Genet 2 (1)

This information is current as of January 1, 2016

ServicesUpdated Information &

http://ng.neurology.org/content/2/1.full.htmlincluding high resolution figures, can be found at:

  Permissions & Licensing

http://ng.neurology.org/misc/about.xhtml#permissionsits entirety can be found online at:Information about reproducing this article in parts (figures,tables) or in

  Reprints

http://ng.neurology.org/misc/addir.xhtml#reprintsusInformation about ordering reprints can be found online:

2376-7839.an open-access, online-only, continuous publication journal. Copyright . All rights reserved. Online ISSN:

is an official journal of the American Academy of Neurology. Published since April 2015, it isNeurol Genet