Premium
Recurrent generalized seizures, visual loss, and palinopsia as phenotypic features of neuronal ceroid lipofuscinosis due to progranulin gene mutation
Author(s) -
Canafoglia Laura,
Morbin Michela,
Scaioli Vidmer,
Pareyson Davide,
D'Incerti Ludovico,
Fugnanesi Valeria,
Tagliavini Fabrizio,
Berkovic Samuel F.,
Franceschetti Silvana
Publication year - 2014
Publication title -
epilepsia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.687
H-Index - 191
eISSN - 1528-1167
pISSN - 0013-9580
DOI - 10.1111/epi.12632
Subject(s) - neuronal ceroid lipofuscinosis , phenotype , atrophy , neuroscience , pathology , mutation , psychology , medicine , disease , gene , biology , genetics
Summary We detail the phenotype of a novel form of neuronal ceroid lipofuscinosis due to a homozygous progranulin gene mutation (c.813_816del; CLN 11 MIM #614706). The symptoms appeared in two young adult siblings, and included progressive retinopathy, recurrent generalized seizures, moderate ataxia, and subtle cognitive dysfunction. Long‐lasting episodes of palinopsia were a recurring symptom and associated with polyphasic visual‐evoked potential waveform that suggested hyperexcitability of the occipital cortex. Electroencephalography showed rare spike‐wave paroxysms, and magnetic resonance imaging revealed selective cerebellar atrophy. Skin biopsy revealed fingerprint storage and the absence of progranulin protein. Electron microscopy of peripheral blood leukocytes showed fingerprint profiles in 1/100 lymphocytes. These findings define a novel phenotype and provide clues for better understanding of progranulin function. A PowerPoint slide summarizing this article is available for download in the Supporting Information section here .