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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Cerebellar atrophy in a patient with velocardiofacial syndrome.

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.[1]


  1. Cerebellar atrophy in a patient with velocardiofacial syndrome. Lynch, D.R., McDonald-McGinn, D.M., Zackai, E.H., Emanuel, B.S., Driscoll, D.A., Whitaker, L.A., Fischbeck, K.H. J. Med. Genet. (1995) [Pubmed]
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