Neurodegeneration with Progressive Dystonia: Juvenile-Onset Tay-Sachs Disease

被引:0
作者
Kaur, Jasmine [1 ]
Bhanudeep, Singanamalla [2 ]
Suresh, Ramprabhu G. [3 ]
Saini, Arushi G. [3 ]
Bhatia, Vikas [4 ]
机构
[1] Postgrad Inst Med Educ & Res, Employees State Insurance, New Delhi, India
[2] KIMS Cuddles, Dept Pediat, Hyderabad, Telangana, India
[3] Post Grad Inst Med Educ & Res PGIMER, Dept Pediat, Adv Pediat Ctr, Chandigarh, India
[4] Post Grad Inst Med Educ & Res PGIMER, Dept Radiodiag, Adv Pediat Ctr, Chandigarh, India
关键词
SPECTRUM;
D O I
10.4103/aian.aian_419_21
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
引用
收藏
页码:324 / 325
页数:2
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  • [1] The Spectrum of Movement Disorders in Childhood-onset Lysosomal Storage Diseases
    Ebrahimi-Fakhari, Darius
    Hildebrandt, Clara
    Davis, Peter E.
    Rodan, Lance H.
    Anselm, Irina
    Bodamer, Olaf
    [J]. MOVEMENT DISORDERS CLINICAL PRACTICE, 2018, 5 (02): : 149 - 155
  • [2] Dysarthria and Stutter as Presenting Symptoms of Late-Onset Tay-Sachs Disease in Three Siblings
    Grim, Kristina K.
    Phillips, Gregory D.
    Renner, David R.
    [J]. MOVEMENT DISORDERS CLINICAL PRACTICE, 2015, 2 (03): : 289 - 290
  • [3] HEXOSAMINIDASE A DEFICIENCY PRESENTING AS JUVENILE PROGRESSIVE DYSTONIA
    HARDIE, RJ
    YOUNG, EP
    MORGANHUGHES, JA
    [J]. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 1988, 51 (03) : 446 - 447
  • [4] The natural history of juvenile or subacute GM2 gangliosidosis: 21 new cases and literature review of 134 previously reported
    Maegawa, Gustavo H. B.
    Stockley, Tracy
    Tropak, Michael
    Banwell, Brenda
    Blaser, Susan
    Kok, Fernando
    Giugliani, Roberto
    Mahuran, Don
    Clarke, Joe T. R.
    [J]. PEDIATRICS, 2006, 118 (05) : E1550 - E1562
  • [5] JUVENILE PROGRESSIVE DYSTONIA - A NEW PHENOTYPE OF GM2 GANGLIOSIDOSIS
    MEEK, D
    WOLFE, LS
    ANDERMANN, E
    ANDERMANN, F
    [J]. ANNALS OF NEUROLOGY, 1984, 15 (04) : 348 - 352
  • [6] Identification of Novel Mutations in HEXA Gene in Children Affected with Tay Sachs Disease from India
    Mistri, Mehul
    Tamhankar, Parag M.
    Sheth, Frenny
    Sanghavi, Daksha
    Kondurkar, Pratima
    Patil, Swapnil
    Idicula-Thomas, Susan
    Gupta, Sarita
    Sheth, Jayesh
    [J]. PLOS ONE, 2012, 7 (06):
  • [7] PROGRESSIVE DYSTONIA SYMPTOMATIC OF JUVENILE GM2 GANGLIOSIDOSIS
    NARDOCCI, N
    BERTAGNOLIO, B
    RUMI, V
    ANGELINI, L
    [J]. MOVEMENT DISORDERS, 1992, 7 (01) : 64 - 67
  • [8] Expanding the spectrum of HEXA mutations in Indian patients with Tay-Sachs disease
    Sheth, Jayesh
    Mistri, Mehul
    Datar, Chaitanya
    Kalane, Umesh
    Patil, Shekhar
    Kamate, Mahesh
    Shah, Harshuti
    Nampoothiri, Sheela
    Gupta, Sarita
    Sheth, Frenny
    [J]. MOLECULAR GENETICS AND METABOLISM REPORTS, 2014, 1 : 425 - 430