Autopsy study of cerebellar degeneration in siblings with ataxia-telangiectasia-like disorder

Acta Neuropathologica

Volumn 119, Issue 4, 2010, Pages 513-520

  Oba, Daiju ^a   Hayashi, Masaharu ^c   Minamitani, Motoyuki ^a   Hamano, Shinichiro ^a   Uchisaka, Naoki ^a   Kikuchi, Akira ^a   Kishimoto, Hiroshi ^a   Takagi, Masatoshi ^b   Morio, Tomohiro ^b   Mizutani, Shuki ^b  

^a SAITAMA CHILDREN'S MEDICAL CENTER   (Japan)

^b TOKYO MEDICAL AND DENTAL UNIVERSITY   (Japan)

^c NONE

Author keywords

Ataxia telangiectasia like disorder; Cerebellar degeneration; MRE11; Oxidative stress

Indexed keywords

8 HYDROXYDEOXYGUANOSINE; DNA;

ADOLESCENT; ARTICLE; ATAXIA TELANGIECTASIA; ATAXIA TELANGIECTASIA LIKE DISEASE; AUTOPSY; BASAL GANGLION; BRAIN CORTEX; CASE REPORT; CELL NUCLEUS; CEREBELLUM ATROPHY; CEREBELLUM CORTEX; CEREBELLUM DEGENERATION; CEREBELLUM VERMIS; CHILD; CONTROLLED STUDY; DEATH; DISEASE SEVERITY; GENE; GENE MUTATION; GLIA CELL; GRANULE CELL; HEMISPHERE; HETEROZYGOSITY; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNOREACTIVITY; INFANCY; JAPANESE; LUNG CANCER; MALE; MESENCEPHALON; MRE11 GENE; NEUROPATHOLOGY; NUCLEAR MAGNETIC RESONANCE IMAGING; OXIDATIVE STRESS; PRIORITY JOURNAL; PROTEIN DEFICIENCY; SCHOOL CHILD; SIBLING;

ADOLESCENT; ASIAN CONTINENTAL ANCESTRY GROUP; ATAXIA TELANGIECTASIA; ATROPHY; AUTOPSY; BASAL GANGLIA; CEREBELLAR CORTEX; CEREBRAL CORTEX; CHILD; DNA DAMAGE; DNA-BINDING PROTEINS; FATAL OUTCOME; HETEROZYGOTE; HUMANS; INFANT; LUNG NEOPLASMS; MALE; MESENCEPHALON; MUTATION; NERVE DEGENERATION; SIBLINGS; SPINOCEREBELLAR DEGENERATIONS;

EID: 77953027303     PISSN: 00016322     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00401-010-0639-4     Document Type: Article

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