We described a family with a molecularly confirmed form of CFEOM1 and a late-onset cerebellar syndrome. Brain MRI showed vermis atrophy in two older family members, who also manifested gait impairment, whereas both neurological examination and neuroimaging findings were normal in a younger relative who harbored the same mutation.
Cerebellar Atrophy in Congenital Fibrosis of the Extraocular Muscles Type 1 / Roberto Di, Fabio; Giovanna, Comanducci; Francesca, Piccolo; Filippo Maria, Santorelli; DE BERARDINIS, Teresa; Alessandra, Tessa; Umberto, Sabatini; Francesco, Pierelli; Carlo, Casali. - In: THE CEREBELLUM. - ISSN 1473-4222. - Jun 15:(2013), pp. 1-4. [10.1007/s12311-012-0396-0]
Cerebellar Atrophy in Congenital Fibrosis of the Extraocular Muscles Type 1
DE BERARDINIS, TERESA;
2013
Abstract
We described a family with a molecularly confirmed form of CFEOM1 and a late-onset cerebellar syndrome. Brain MRI showed vermis atrophy in two older family members, who also manifested gait impairment, whereas both neurological examination and neuroimaging findings were normal in a younger relative who harbored the same mutation.| File | Dimensione | Formato | |
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CFEOM paper Cerebellum 2012.pdf
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