Quantitative oculomotor assessment and non-motor biomarkers in late-onset Tay-Sachs and Sandhoff disease

被引:0
|
作者
Stephen, Christopher [1 ,2 ]
Balkwill, David [2 ,4 ]
James, Peter [1 ,2 ]
Sassower, Kenneth [1 ,2 ]
Schmahmann, Jeremy [1 ,2 ]
Lewis, Richard [2 ,4 ]
Eichler, Florian [2 ,3 ]
机构
[1] Massachusetts Gen Hosp, Neurol, Boston, MA 02114 USA
[2] Harvard Med Sch, Boston, MA USA
[3] Massachusetts Gen Hosp, Child Neurol, Boston, MA 02114 USA
[4] Massachusetts Eye & Ear Infirm, Jenks Vestibular Lab, Boston, MA 02114 USA
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
P1.066
引用
收藏
页数:2
相关论文
共 50 条
  • [31] 31Phosphorus magnetic resonance spectroscopy in late-onset Tay-Sachs disease
    Felderhoff-Mueser, U
    Sperner, J
    Konstanzcak, P
    Navon, R
    Weschke, B
    JOURNAL OF CHILD NEUROLOGY, 2001, 16 (05) : 377 - 380
  • [32] A case of infantile Tay-Sachs disease with late onset spasms
    Yamamoto, Naohiro
    Kuki, Ichiro
    Nagase, Shizuka
    Inoue, Takeshi
    Nukui, Megumi
    Okazaki, Shin
    Furuichi, Yasuko
    Adachi, Kaori
    Nanba, Eiji
    Sakai, Norio
    Kawawaki, Hisashi
    BRAIN & DEVELOPMENT, 2021, 43 (05): : 661 - 665
  • [33] An inducible mouse model of late onset Tay-Sachs disease
    Jeyakumar, M
    Smith, D
    Eliott-Smith, E
    Cortina-Borja, M
    Reinkensmeier, G
    Butters, TD
    Lemm, T
    Sandhoff, K
    Perry, VH
    Dwek, RA
    Platt, FM
    NEUROBIOLOGY OF DISEASE, 2002, 10 (03) : 201 - 210
  • [34] Letter response: Intra-familial phenotype variability in Late-Onset Tay-Sachs disease
    Riboldi, Giulietta Maria
    Lau, Heather
    TREMOR AND OTHER HYPERKINETIC MOVEMENTS, 2023, 13
  • [35] Late-Onset Tay-Sachs Disease With a Predominantly Neuropsychiatric Presentation: Case Report and Literature Review
    Yortston, Graeme
    Awan, Noor Ul Ain
    Aref, Mahmoud
    Thirumalai, Srinivasa
    BJPSYCH OPEN, 2024, 10 : S293 - S293
  • [36] Late-Onset Tay-Sachs Disease With a Predominantly Neuropsychiatric Presentation: Case Report and Literature Review
    Yortston, Graeme
    Awan, Noor Ul Ain
    Aref, Mahmoud
    Thirumalai, Srinivasa
    BJPSYCH OPEN, 2024, 10 : S293 - S293
  • [37] Late-onset Tay-Sachs disease: Phenotypic characterization and genotypic correlations in 21 affected patients
    Neudorfer, O
    Pastores, GM
    Zeng, BJ
    Gianutsos, J
    Zaroff, CM
    Kolodny, EH
    GENETICS IN MEDICINE, 2005, 7 (02) : 119 - 123
  • [38] A feasibility study of mHealth and wearable technology in late onset GM2 gangliosidosis (Tay-Sachs and Sandhoff Disease)
    Davies, Elin Haf
    Johnston, Jean
    Toro, Camilo
    Tifft, Cynthia J.
    ORPHANET JOURNAL OF RARE DISEASES, 2020, 15 (01)
  • [39] A feasibility study of mHealth and wearable technology in late onset GM2 gangliosidosis (Tay-Sachs and Sandhoff Disease)
    Elin Haf Davies
    Jean Johnston
    Camilo Toro
    Cynthia J. Tifft
    Orphanet Journal of Rare Diseases, 15
  • [40] Neuro-ophthalmology of Late-Onset Tay Sachs disease
    Rucker, JC
    Shapiro, BE
    Han, YN
    Kumar, AN
    Leigh, RJ
    NEUROLOGY, 2004, 62 (07) : A63 - A63