Myoclonic axial jerks for diagnosing atypical evolution of ataxia telangiectasia

Brain and Development

Volumn 37, Issue 3, 2015, Pages 362-365

  Nakayama, Tojo ^a   Sato, Yuko ^a   Uematsu, Mitsugu ^a   Takagi, Masatoshi ^b   Hasegawa, Setsuko ^b   Kumada, Satoko ^d   Kikuchi, Atsuo ^a   Hino Fukuyo, Naomi ^a   Sasahara, Yoji ^a   Haginoya, Kazuhiro ^a,c   Kure, Shigeo ^a  

^a TOHOKU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b TOKYO MEDICAL AND DENTAL UNIVERSITY   (Japan)

^c Takuto Rehabilitation Center for Children   (Japan)

^d TOKYO METROPOLITAN NEUROLOGICAL HOSPITAL   (Japan)

Author keywords

AFP; Ataxia telangiectasia; ATM gene; Extrapyramidal sign; Myoclonic jerk

Indexed keywords

ATM PROTEIN; BETAMETHASONE; IMMUNOGLOBULIN E; LEVODOPA;

ALPHA FETOPROTEIN BLOOD LEVEL; ARTICLE; ATAXIA TELANGIECTASIA; BRAIN ATROPHY; CASE REPORT; CELL LYSATE; CEREBELLUM; CEREBELLUM VERMIS; CHILD; CLINICAL FEATURE; DYSARTHRIA; DYSDIADOCHOKINESIS; DYSMETRIA; DYSTONIA; ELECTROMYOGRAM; EXTRAPYRAMIDAL SYMPTOM; FEMALE; FOLLOW UP; GENE MUTATION; GENETIC SCREENING; HEREDITARY MOTOR SENSORY NEUROPATHY; HETEROZYGOSITY; HUMAN; LOW DRUG DOSE; LYMPHOBLAST; MENTAL DEFICIENCY; MYALGIA; MYOCLONIC AXIAL JERK; MYOCLONUS DYSTONIA; NUCLEAR MAGNETIC RESONANCE IMAGING; PATELLA TENDON; PHENOTYPE; SACCADIC EYE MOVEMENT; SCHOOL CHILD; SLURRED SPEECH; TENDON REFLEX; UNSTEADY GAIT; VIDEORECORDING; WESTERN BLOTTING; COMPLICATION; MYOCLONUS;

ATAXIA TELANGIECTASIA; CHILD; FEMALE; HUMANS; MYOCLONUS;

EID: 84922821064     PISSN: 03877604     EISSN: 18727131     Source Type: Journal    
DOI: 10.1016/j.braindev.2014.06.001     Document Type: Article

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