Juvenile Huntington disease in an 18-month-old boy revealed by global developmental delay and reduced cerebellar volume

American Journal of Medical Genetics, Part A

Volumn 155, Issue 4, 2011, Pages 815-818

  Nicolas, Gaël ^a   Devys, Didier ^b   Goldenberg, Alice ^a   Maltête, David ^a   Hervé, Catherine ^a   Hannequin, Didier ^a   Guyant Maréchal, Lucie ^a  

^a ROUEN UNIVERSITY HOSPITAL   (France)

^b UNIVERSITY HOSPITAL OF STRASBOURG   (France)

Author keywords

Cerebellar atrophy; Developmental delay; Juvenile Huntington disease

Indexed keywords

ADULT; AGGRESSION; ARTICLE; ATAXIA; BRAIN ATROPHY; BRAIN SIZE; CAG REPEAT; CASE REPORT; CAUDATE NUCLEUS; CLINICAL EXAMINATION; DEMENTIA; DNA DETERMINATION; FAMILY HISTORY; GENE; GENETIC ANALYSIS; GROWTH RETARDATION; HTT GENE; HUMAN; HUMAN CELL; HUNTINGTON CHOREA; INFANT; LIMB DISEASE; MALE; MINI MENTAL STATE EXAMINATION; MOTOR DYSFUNCTION; MUSCLE HYPOTONIA; MUSCLE RIGIDITY; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; PRIORITY JOURNAL; TREMOR; TRUNCAL HYPOTONIA;

CEREBELLUM; DEVELOPMENTAL DISABILITIES; HUMANS; HUNTINGTON DISEASE; INFANT; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; NERVE TISSUE PROTEINS; NUCLEAR PROTEINS; TRINUCLEOTIDE REPEAT EXPANSION;

EID: 79953328501     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33911     Document Type: Article

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