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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.
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, UTngjournal@neurology.orgSpecialties: 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, NYjournal@neurology.org
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
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ª 2016 American Academy of Neurology. Unauthorized reproduction of this article is prohibited.
Neurology.org/ng � Online ISSN: 2376-7839Volume 2, Number 1, February 2016
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ª 2016 American Academy of Neurology. Unauthorized reproduction of this article is prohibited.
2016;2; Neurol Genet 2 (1)
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