A novel PSEN1 mutation in a patient with sporadic early-onset Alzheimer's disease and prominent cerebellar ataxia(104 visite) Testi S, Peluso S, Fabrizi GM, Antenora A, Russo CV, Pappata S, Padovani A, Ferrarini M, Filla A
Parole chiave: Ataxia, Dominantly-Inherited Spinocerebellar Ataxias, Early Onset Alzheimer, S Disease, Human Psen1 Protein, Cholinesterase Inhibitor, Donepezil, Fluorodeoxyglucose F 18, Indan Derivative, Piperidine Derivative, Presenilin 1, Adult, Alzheimer Disease, Complication, Diagnostic Use, Female, Genetics, Mutation, Nuclear Magnetic Resonance Imaging, Nucleotide Sequence, Positron Emission Tomography, Young Adult, Dna Mutational Analysis, Positron-Emission Tomography,
Affiliazioni:
*** IBB - CNR *** Department of Neurological and Movement Sciences, Section of Neuropathology, University of Verona, Italy. Department of Neurosciences and Reproductive and Odontostomatological Sciences, Federico II University, Naples, Italy. Biostructure and Bioimaging Institute, CNR, Naples, Italy. Clinical Neurology, Section for Neuromuscular Diseaseas and Neuropathies, University Hospital "Spedali Civili", Brescia, Italy.
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PSEN1 gene mutations represent the first cause of familiar early-onset Alzheimer's disease (EOAD). More than 190 mutations in PSEN1 have been reported to date. The clinical phenotype is mainly characterized by cognitive decline but movement disorders have been rarely described. We report a novel PSEN1 mutation (p.Thr147Pro) responsible for a sporadic early-onset dementia with prominent cerebellar symptoms, resembling a spinocerebellar syndrome. Neuroradiological and cerebrospinal fluid biomarkers examinations were performed on the patient, showing typical findings of EOAD and suggesting the pathogenicity of the novel mutation. Our study widens the number of unusual phenotypes related to PSEN1 mutations.
Antonini A, Vitale C, Barone P, Cilia R, Righini A, Bonuccelli U, Abbruzzese G, Ramat S, Petrone A, Quatrale R, Marconi R, Ceravolo R, Stefani A, Lopiano L, Zappia M, Capus L, Morgante L, Tamma F, Tinazzi M, Colosimo C, Guerra UP, Valzania F, Fagioli G, Distefano A, Bagnato A, Feggi L, Anna S, Maria Teresa Rosaria De Cr, Nobili F, Mazzuca N, Baldari S, Eleopra R, Bestetti A, Benti R, Varrone A, Volterrani D, Massa R, Stocchi F, Schillaci O, Dore F, Zibetti M, Castellano G, Battista SG, Giorgetti G * The relationship between cerebral vascular disease and parkinsonism: The VADO study(171 visite) Parkinsonism Relat D (ISSN: 1353-8020, 1873-5126, 1873-5126electronic), 2012; 18(6): 775-780. Impact Factor:3.274 DettagliEsporta in BibTeXEsporta in EndNote
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