Neuronal ceroidolipofuscinosis type 2 (CLN2) disease: Clinical features, diagnosis and an innovative therapeutic opportunity

被引:0
|
作者
Dallagiacoma, S. [1 ]
Di Donato, I. [1 ]
Sollazzo, M. T. [1 ]
Rufa, A. [1 ]
Specchio, N. [2 ]
Aiello, C. [2 ]
Bertini, E. [3 ]
Tedeschi, G. [4 ]
Dotti, M. T. [1 ]
机构
[1] Univ Siena, Dept Med Surg & Neurosci, Siena, Italy
[2] Osped Pediat Bambino Gesu IRCCS Roma, Dipartimento Neurosci, Unita Epilessie Rare & Complesse, Rome, Italy
[3] Osped Pediat Bambino Gesu IRCCS Roma, Unit Neuromuscular & Neurodegenerat Disorders, Rome, Italy
[4] Univ Campania L Vanvitelli, Dept Med Surg Neurol Metab & Aging Sci, Div Neurol 1, Naples, Italy
关键词
D O I
暂无
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
EPO2069
引用
收藏
页码:592 / 593
页数:2
相关论文
共 50 条
  • [31] Disease characteristics and progression in patients with late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2) disease: an observational cohort study
    Nickel, Miriam
    Simonati, Alessandro
    Jacoby, David
    Lezius, Susanne
    Kilian, Dirk
    Van de Graaf, Benjamin
    Pagovich, Odelya E.
    Kosofsky, Barry
    Yohay, Kaleb
    Downs, Matthew
    Slasor, Peter
    Aiayi, Temitayo
    Crystal, Ronald G.
    Kohlschuetter, Alfried
    Sondhi, Dolan
    Schulz, Angela
    LANCET CHILD & ADOLESCENT HEALTH, 2018, 2 (08): : 582 - 590
  • [32] Results of a family survey on healthcare resource needs in children with neuronal ceroid lipofuscinosis type 2 (CLN2) disease in the US and Canada
    Rastogi, Sarang
    Conner, Therese
    Cook, Francesca
    Fernandez, Vivian
    Kirby, Tracy
    MOLECULAR GENETICS AND METABOLISM, 2020, 129 (02) : S135 - S135
  • [33] Intravitreal enzyme replacement therapy attenuates retinal disease progression in a canine model of neuronal ceroid lipofuscinosis type 2 (CLN2)
    Sinclair, John
    Whiting, Rebecca
    Robinson, Grace
    Bibi, Katherine
    Nguyen, Annailsa
    Cherukuri, Anu
    Henshaw, Joshua
    De Hart, Gregory
    Chandra, Sundeep
    O'Neill, Chuck
    Katz, Martin
    MOLECULAR GENETICS AND METABOLISM, 2018, 123 (02) : S132 - S132
  • [34] Intravitreal Enzyme replacement therapy attenuates retinal disease progression in a canine model of neuronal ceroid lipofuscinosis type 2 (CLN2)
    Sinclair, John
    Whiting, Rebecca
    Robinson, Grace
    Bibi, Katherin
    Nguyen, Annalisa
    Cherukuri, Anu
    Henshaw, Joshua
    de Hart, Gregory
    Sundeep, Chandra
    O'Neil, Chuck
    Katz, Martin
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2018, 59 (09)
  • [35] Clinical, biochemical and molecular characteristics of five patients with late infantile neuronal ceroide lipofucsinosis type (CLN2 disease) phenotype clasical and atypical
    Atanacio, Nora G.
    Durand, Consuelo
    Villanueva, Mercedes
    Masllorens, Francisca
    Frabasil, Joaquin
    Schenone, Andrea
    Loos, Mariana
    MOLECULAR GENETICS AND METABOLISM, 2019, 126 (02) : S26 - S26
  • [36] An integrated strategy for the diagnosis of neuronal ceroid lipofuscinosis types 1 (CLN1) and 2 (CLN2) in eleven Latin American patients
    Kohan, R.
    Cismondi, I. A.
    Dodelson Kremer, R.
    Muller, V. J.
    Guelbert, N.
    Tapia Anzolini, V.
    Fietz, M. J.
    Oller Ramirez, A. M.
    Noher Halac, I.
    CLINICAL GENETICS, 2009, 76 (04) : 372 - 382
  • [37] Cerliponase alfa for CLN2 disease, a promising therapy
    Aylward, Shawn C.
    Pindrik, Jonathan
    Abreu, Nicolas J.
    Cherny, W. Bruce
    O'Neal, Matthew
    de Los Reyes, Emily
    EXPERT OPINION ON ORPHAN DRUGS, 2020, 8 (11): : 445 - 454
  • [38] Mitochondrial abnormalities in CLN2 and CLN3 forms of Batten disease
    Dawson, G
    Kilkus, J
    Siakotos, AN
    Singh, I
    MOLECULAR AND CHEMICAL NEUROPATHOLOGY, 1996, 29 (2-3) : 227 - 235
  • [39] Study of Intraventricular Cerliponase Alfa for CLN2 Disease
    Schulz, Angela
    Ajayi, Temitayo
    Specchio, Nicola
    de Los Reyes, Emily
    Gissen, Paul
    Ballon, Douglas
    Dyke, Jonathan P.
    Cahan, Heather
    Slasor, Peter
    Jacoby, David
    Kohlschutter, Alfried
    NEW ENGLAND JOURNAL OF MEDICINE, 2018, 378 (20): : 1898 - 1907
  • [40] Late-infantile neuronal ceroid lipofuscinosis (CLN2/Jansky-Bielschowsky type) in Oman
    Koul, Roshan
    Al-Futaisi, Amna
    Ganesh, Anuradha
    Bushnarmuth, Shivayogi Rangnath
    JOURNAL OF CHILD NEUROLOGY, 2007, 22 (05) : 555 - 559