Complete deletion of the aprataxin gene: Ataxia with oculomotor apraxia type 1 with severe phenotype and cognitive deficit [9]

Journal of Neurology, Neurosurgery and Psychiatry

Volumn 79, Issue 2, 2008, Pages 234-236

  Yoon, Grace ^a   Westmacott, R ^a   MacMillan, L ^a   Quercia, N ^a   Koutsou, P ^b   Georghiou, A ^b   Christodoulou, K ^b   Banwell, B ^a  

^a HOSPITAL FOR SICK CHILDREN   (Canada)

^b CYPRUS INSTITUTE OF NEUROLOGY AND GENETICS   (Cyprus)

Author keywords

[No Author keywords available]

Indexed keywords

APRAXIA; ATAXIA; ATAXIA WITH OCULOMOTOR APRAXIA TYPE 1; CASE REPORT; CEREBELLUM ATROPHY; COGNITIVE DEFECT; DAILY LIFE ACTIVITY; DEGENERATIVE DISEASE; ELECTROMYOGRAPHY; FEMALE; GENE DELETION; GENETIC ASSOCIATION; GENETIC SCREENING; HUMAN; LANGUAGE DISABILITY; LETTER; MOTOR DYSFUNCTION; MUSCLE WEAKNESS; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; POINT MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; WALKING DIFFICULTY; ATROPHY; CEREBELLUM; CHILD; CHROMOSOME DELETION; CONSANGUINITY; DISABILITY; DYSARTHRIA; GENETICS; HOMOZYGOTE; NEUROPSYCHOLOGICAL TEST; OCULOMOTOR NERVE DISEASE; PATHOLOGY; POLYMERASE CHAIN REACTION; SACCADIC EYE MOVEMENT; SOCIAL ISOLATION; SPINOCEREBELLAR DEGENERATION;

APTX PROTEIN, HUMAN; DNA BINDING PROTEIN; NUCLEAR PROTEIN; UNCLASSIFIED DRUG;

APRAXIAS; ATROPHY; CEREBELLUM; CHILD; CHROMOSOME DELETION; COGNITION DISORDERS; CONSANGUINITY; DISABILITY EVALUATION; DNA-BINDING PROTEINS; DYSARTHRIA; FEMALE; HOMOZYGOTE; HUMANS; NEUROLOGIC EXAMINATION; NEUROPSYCHOLOGICAL TESTS; NUCLEAR PROTEINS; OCULOMOTOR NERVE DISEASES; PHENOTYPE; POLYMERASE CHAIN REACTION; SACCADES; SOCIAL ISOLATION; SPINOCEREBELLAR DEGENERATIONS;

EID: 38849127592     PISSN: 00223050     EISSN: 1468330X     Source Type: Journal    
DOI: 10.1136/jnnp.2007.127233     Document Type: Letter

References (5)

1. Le Ber I, Moreira MC, Rivaud-Pechoux S, et al. Cerebellar ataxia with oculomotor apraxia type 1: clinical and genetic studies. Brain 2003;126: 2761-72.
2. Shimazaki H, Takiyama Y, Sakoe K, et al. Early-onset ataxia with ocular motor apraxia and hypoalbuminemia: the aprataxin gene mutations. Neurology 2002;59:590-5.
3. Amouri R, Moreira MC, Zouari M, et al. Aprataxin gene mutations in Tunisian families. Neurology 2004;63:928-9.
4. Ahel I, Rass U, El-Khamisy SF, et al. The neurodegenerative disease protein aprataxin resolves abortive DNA ligation intermediates. Nature 2006;443:713-6.
5. Hirano M, Yamamoto A, Mori T, et al. DNA single-strand break repair is impaired in aprataxin-related ataxia. Ann Neurol 2007;61:162-74.