Novel Neuroimaging Finding in Palmitoyl Protein Thioesterase-1-Related Neuronal Ceroid Lipofuscinosis

被引：5
|
作者：
Kamate, Mahesh [1 ]
Hattiholi, Virupaxi [2 ]
机构：
[1] Karnataka Lingayat Soc Univ, Jawaharlal Nehru Med Coll, Dept Pediat, Div Pediat Neurol, Belgaum 590010, Karnataka, India
[2] Karnataka Lingayat Soc Univ, Jawaharlal Nehru Med Coll, Dept Radiol, Belgaum 590010, Karnataka, India
来源：
PEDIATRIC NEUROLOGY | 2012年 / 46卷 / 05期
关键词：
D O I：
10.1016/j.pediatrneurol.2012.02.021
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
Palmitoyl protein thioesterase-1 (PPT1)-related neuronal ceroid lipofuscinosis is a type of neuronal ceroid lipofuscinosis caused by a deficiency of the enzyme palmitoyl protein thioesterase-1. Cranial magnetic resonance imaging reveals more severe atrophy in the cerebral hemispheres than in the cerebellum. The basal ganglia and particularly the thalamus demonstrate low signal intensity on T-2-weighted images from an early age. We present three patients with PPT1-related neuronal ceroid lipofuscinosis who exhibited isolated, symmetric signal changes in the bilateral dentate nucleus as sole early neuroimaging abnormality. Neither cerebral or cerebellar atrophy nor signal changes in the thalamus/basal ganglia were evident. This neuroimaging finding in PPT1-related neuronal ceroid lipofuscinosis was not previously reported. (c) 2012 Elsevier Inc. All rights reserved.
引用
收藏
页码：325 / 328
页数：4
相关论文
共 50 条
  • [1] Adult neuronal ceroid lipofuscinosis caused by deficiency in palmitoyl protein thioesterase 1
    Ramadan, H.
    Al-Din, A. S.
    Ismail, A.
    Balen, F.
    Varma, A.
    Twomey, A.
    Watts, R.
    Jackson, M.
    Anderson, G.
    Green, E.
    Mole, S. E.
    NEUROLOGY, 2007, 68 (05) : 387 - 388
  • [2] Palmitoyl-protein thioesterase and the molecular pathogenesis of infantile neuronal ceroid lipofuscinosis
    Hofmann, SL
    Lee, LA
    Lu, JY
    Verkruyse, LA
    NEUROPEDIATRICS, 1997, 28 (01) : 27 - 30
  • [3] Didemnin binds to the protein palmitoyl thioesterase responsible for infantile neuronal ceroid lipofuscinosis
    Crews, CM
    Lane, WS
    Schreiber, SL
    PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1996, 93 (09) : 4316 - 4319
  • [4] The crystal structure of palmitoyl protein thioesterase 1 and the molecular basis of infantile neuronal ceroid lipofuscinosis
    Bellizzi, JJ
    Widom, J
    Kemp, C
    Lu, JY
    Das, AK
    Hofmann, SL
    Clardy, J
    PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2000, 97 (09) : 4573 - 4578
  • [5] MUTATIONS IN THE PALMITOYL PROTEIN THIOESTERASE GENE CAUSING INFANTILE NEURONAL CEROID-LIPOFUSCINOSIS
    VESA, J
    HELLSTEN, E
    VERKRUYSE, LA
    CAMP, LA
    RAPOLA, J
    SANTAVUORI, P
    HOFMANN, SL
    PELTONEN, L
    NATURE, 1995, 376 (6541) : 584 - 587
  • [6] Enzymatic and molecular biological analysis of palmitoyl protein thioesterase deficiency in infantile neuronal ceroid lipofuscinosis
    Cho, SG
    Dawson, G
    JOURNAL OF NEUROCHEMISTRY, 1998, 71 (01) : 323 - 329
  • [7] Detection of eight novel palmitoyl protein thioesterase (PPT) mutations underlying infantile neuronal ceroid lipofuscinosis (INCL;CLN1)
    Salonen, T
    Järvelä, I
    Peltonen, L
    Jalanko, A
    HUMAN MUTATION, 2000, 15 (03) : 273 - 279
  • [8] Genotype-phenotype correlations in neuronal ceroid lipofuscinosis due to palmitoyl-protein thioesterase deficiency
    Hofmann, SL
    Das, AK
    Yi, W
    Lu, JY
    Wisniewski, KE
    MOLECULAR GENETICS AND METABOLISM, 1999, 66 (04) : 234 - 239
  • [9] Autosomal dominant adult neuronal ceroid lipofuscinosis:: a novel form of NCL with granular osmiophilic deposits without palmitoyl protein thioesterase 1 deficiency
    Nijssen, PCG
    Ceuterick, C
    van Diggelen, OP
    Elleder, M
    Martin, JJ
    Teepen, JLJM
    Tyynelä, J
    Roos, RAC
    BRAIN PATHOLOGY, 2003, 13 (04) : 574 - 581
  • [10] Regional and cellular neuropathology in the palmitoyl protein thioesterase-1 null mutant mouse model of infantile neuronal ceroid lipofuscinosis
    Bible, E
    Gupta, P
    Hofmann, SL
    Cooper, JD
    NEUROBIOLOGY OF DISEASE, 2004, 16 (02) : 346 - 359
12345