title: Cerebellar atrophy in a patient with velocardiofacial syndrome.
abstract: Velocardiofacial syndrome and DiGeorge syndrome have not previously been associated with central nervous system degeneration. We report a 34 year old man who presented for neurological evaluation with cerebellar atrophy of unknown aetiology. On historical review, he had neonatal hypocalcaemia, an atrial septal defect, and a corrected cleft palate. His physical examination showed the characteristic facies of velocardiofacial syndrome as well as dysmetria and dysdiadocho-kinesia consistent with cerebellar degeneration. Molecular cytogenetic studies showed a deletion of 22q11.2. This man is the first reported patient with the association of a neurodegenerative disorder and 22q11.2 deletion syndrome.
authors.affiliation: Department of Neurology, University of Pennsylvania School of Medicine, Philadelphia, USA.
authors.forename: D R
authors.initials: DR
authors.lastname: Lynch
authors.forename: D M
authors.initials: DM
authors.lastname: McDonald-McGinn
authors.forename: E H
authors.initials: EH
authors.lastname: Zackai
authors.forename: B S
authors.initials: BS
authors.lastname: Emanuel
authors.forename: D A
authors.initials: DA
authors.lastname: Driscoll
authors.forename: L A
authors.initials: LA
authors.lastname: Whitaker
authors.forename: K H
authors.initials: KH
authors.lastname: Fischbeck
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D000328:Adult; D001284:Atrophy; D002531:Cerebellum / Q000473:pathology*; D002869:Chromosome Aberrations / Q000473:pathology*; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D002892:Chromosomes, Human, Pair 22 / Q000648:ultrastructure*; D002972:Cleft Palate / Q000235:genetics; D002658:Developmental Disabilities / Q000235:genetics; D005145:Face / Q000002:abnormalities*; D006344:Heart Septal Defects, Atrial / Q000235:genetics; D006801:Humans; D007223:Infant; D008297:Male; D009483:Neuropsychological Tests; D013577:Syndrome