Ataxia with oculomotor apraxia type 1 (AOA1): Clinical and neuropsychological features in 2 new patients and differential diagnosis

Journal of Child Neurology

Volumn 23, Issue 8, 2008, Pages 895-900

  D'Arrigo, Stefano ^a   Riva, Daria ^a   Bulgheroni, Sara ^a   Chiapparini, Luisa ^a   Castellotti, Barbara ^a   Gellera, Cinzia ^a   Pantaleoni, Chiara ^a  

^a DEPARTMENT OF NEUROSURGERY   (Italy)

Author keywords

AOA1; Ataxia; Cerebellar atrophy

Indexed keywords

APRATAXIN; CHROMOSOME PROTEIN; GENOMIC DNA; HUMAN ALBUMIN; METHYLPHENIDATE; UBIQUINONE;

APRAXIA; ARTICLE; ATAXIA WITH OCULOMOTOR APRAXIA TYPE 1; CASE REPORT; CEREBELLAR ATAXIA; CEREBELLUM ATROPHY; CHROMOSOME 9P; CLINICAL FEATURE; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; DIFFERENTIAL DIAGNOSIS; FEMALE; FOLLOW UP; FUNCTIONAL DISEASE; GAIT DISORDER; GENE MUTATION; HEREDITARY ATAXIA; HUMAN; HYPOALBUMINEMIA; LEARNING DISORDER; MALE; MENTAL DEFICIENCY; MICROCEPHALY; NEUROGRAPHY; NEUROLOGIC EXAMINATION; NEUROPSYCHOLOGICAL TEST; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PSYCHOMOTOR RETARDATION; SCHOOL CHILD; SENSORY NEUROPATHY; SEQUENCE ANALYSIS;

ADOLESCENT; APRAXIAS; ATROPHY; CEREBELLAR ATAXIA; CEREBELLUM; CHILD; CHROMOSOME ABERRATIONS; COGNITION DISORDERS; CONSANGUINITY; DIAGNOSIS, DIFFERENTIAL; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; FEMALE; GENES, RECESSIVE; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MENTAL RETARDATION; NERVE TISSUE PROTEINS; NEUROLOGIC EXAMINATION; NEUROPSYCHOLOGICAL TESTS; NUCLEAR PROTEINS; POLYNEUROPATHIES;

EID: 48449089694     PISSN: 08830738     EISSN: None     Source Type: Journal    
DOI: 10.1177/0883073808314959     Document Type: Article

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