Affiliations: [a] Department of Neurological and Movement Sciences, Section of Neuropathology, University of Verona, Italy | [b] Department of Neurosciences and Reproductive and Odontostomatological Sciences, Federico II University, Naples, Italy | [c] Biostructure and Bioimaging Institute, CNR, Naples, Italy | [d] Clinical Neurology, Section for Neuromuscular Diseaseas and Neuropathies, University Hospital “Spedali Civili”, Brescia, Italy
Correspondence:
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Correspondence to: Dr. Silvio Peluso, Department of Neurosciences and Reproductive and Odontostomatological Sciences, Federico II University, Naples, Italy, Via Pansini 5, 80131, Naples, Italy. Tel./Fax: +39 081 7464348; E-mail: [email protected].
Note: [1] These authors contributed equally to this work.
Abstract: 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.
Keywords: Ataxia, early onset Alzheimer's disease, dominantly-inherited spinocerebellar ataxias, human PSEN1 protein
