title: Photosensitivity in a patient with C9orf72 repeat expansion.
abstract: The phenotype of C9ORF72 repeat expansions is rapidly expanding. Originally found to be the major genetic cause of familial frontotemporal dementia with amyotrophic lateral sclerosis, several other clinical characteristics have been described more recently. Here, we report on a family diagnosed with 'degenerative schizophrenia' and harbouring a C9ORF72 repeat expansion, in which at least the index patient and an uncle showed a photoparoxysmal response during electroencephalography. Whereas epilepsy has been described in several repeat expansion disorders, photosensitivity has thus far only been reported in dentatorubral-pallidoluysian atrophy. The photoparoxysmal response may therefore be a new clinical feature of C9ORF72 repeat expansion related disease. Our observation learns that a repeat expansion disorder like C9ORF72 should be considered in patients with a combination of young-onset dementia, psychiatric symptoms and/or photosensitive epilepsy. We advocate the occasional use of EEG in the dementia workup and in particular urge to consider provocative tests such as photic stimulation.
authors.affiliation: a Department of Neurology , Zuyderland Medical Centre , Heerlen , The Netherlands.
authors.forename: Paula
authors.initials: P
authors.lastname: Janssen
authors.affiliation: a Department of Neurology , Zuyderland Medical Centre , Heerlen , The Netherlands.
authors.forename: Mark
authors.initials: M
authors.lastname: Houben
authors.affiliation: a Department of Neurology , Zuyderland Medical Centre , Heerlen , The Netherlands.
authors.forename: Erik
authors.initials: E
authors.lastname: Hoff
mesh_terms: D000328:Adult; D058256:Brain Waves / Q000235:genetics; D000073885:C9orf72 Protein; D042622:DNA Repeat Expansion / Q000235:genetics*; D004569:Electroencephalography; D006801:Humans; D008297:Male; D010787:Photosensitivity Disorders / Q000150:complications / Q000235:genetics*; D011506:Proteins / Q000235:genetics*; D012559:Schizophrenia / Q000150:complications / Q000235:genetics*
chemical_list: D000073885:C9orf72 Protein; C568651:C9orf72 protein, human; D011506:Proteins
keywords: EEG; Frontotemporal dementia; electroencephalography; photoparoxysmal response; repeat expansion disorders