Early onset autosomal dominant dementia with ataxia, extrapyramidal features, and epilepsy

Neurology
A FillaA Bruni

Abstract

To perform a clinical and molecular study of a large autosomal dominant family with a complex neurologic syndrome that comprises early-onset dementia, extrapyramidal and cerebellar features, and epilepsy. Early-onset forms of dementia often are caused by genetic factors. Mutations of three different genes-amyloid precursor protein (APP), presenilin 1 (PS-1), presenilin 2 (PS-2)-have been found in early-onset autosomal dominant forms of AD, of the human microtubule associated-protein tau gene (MAPT) in frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17), of the BRI gene in familial British dementia, of the PI12 gene in familial encephalopathy with neuroserpin inclusion bodies. Linkage to chromosome 3 has been found in familial nonspecific dementia (FND) and linkage to chromosome 20 has been found in Huntington disease (HD)-like neurodegenerative disease. Dementia may be a feature of other neurodegenerative diseases such as HD, dentatorubro-pallidoluysian atrophy (DRPLA), diseases caused by mutations of the prion protein gene (PRNP), spinocerebellar ataxias (SCA), and familial parkinsonism. A southern Italian family with autosomal dominant dementia-plus was observed. The family includes 57 individuals in 5 ...Continue Reading

Citations

Apr 18, 2008·The Cerebellum·Giovanni Stevanin, Alexis Brice
Aug 6, 2013·European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society·Narges MoghimiAnna M Szekely
Sep 7, 2011·Epilepsy Research·Katarzyna LukasiukLeszek Kaczmarek
Sep 25, 2012·Seizure : the Journal of the British Epilepsy Association·Marco BelluzzoGilberto Pizzolato
Apr 6, 2018·International Journal of Molecular Sciences·Marina P SánchezJosé M Serratosa
Mar 19, 2021·Neuroradiology·Sirio CocozzaArturo Brunetti
Nov 26, 2003·Neurology·F MalteccaG De Michele

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