A novel PSEN1 mutation in a patient with sporadic early-onset Alzheimer's disease and prominent cerebellar ataxia.
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.
Department of Neurological and Movement Sciences, Section of Neuropathology, University of Verona, Italy.
Silvia
S
Testi
Department of Neurosciences and Reproductive and Odontostomatological Sciences, Federico II University, Naples, Italy.
Silvio
S
Peluso
Department of Neurological and Movement Sciences, Section of Neuropathology, University of Verona, Italy.
Gian Maria
GM
Fabrizi
Department of Neurosciences and Reproductive and Odontostomatological Sciences, Federico II University, Naples, Italy.
Antonella
A
Antenora
Department of Neurosciences and Reproductive and Odontostomatological Sciences, Federico II University, Naples, Italy.
Cinzia Valeria
CV
Russo
Biostructure and Bioimaging Institute, CNR, Naples, Italy.
Sabina
S
Pappatà
Clinical Neurology, Section for Neuromuscular Diseaseas and Neuropathies, University Hospital "Spedali Civili", Brescia, Italy.
Alessandro
A
Padovani
Department of Neurological and Movement Sciences, Section of Neuropathology, University of Verona, Italy.
Moreno
M
Ferrarini
Department of Neurosciences and Reproductive and Odontostomatological Sciences, Federico II University, Naples, Italy.
Alessandro
A
Filla
D000328:Adult; D000544:Alzheimer Disease / Q000150:complications / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D002524:Cerebellar Ataxia / Q000150:complications / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D002800:Cholinesterase Inhibitors / Q000627:therapeutic use; D004252:DNA Mutational Analysis; D000077265:Donepezil; D005260:Female; D019788:Fluorodeoxyglucose F18; D006801:Humans; D007189:Indans / Q000627:therapeutic use; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation / Q000235:genetics*; D010880:Piperidines / Q000627:therapeutic use; D049268:Positron-Emission Tomography; D053764:Presenilin-1 / Q000235:genetics*; D055815:Young Adult
D002800:Cholinesterase Inhibitors; D007189:Indans; C508853:PSEN1 protein, human; D010880:Piperidines; D053764:Presenilin-1; D019788:Fluorodeoxyglucose F18; D000077265:Donepezil
Ataxia; dominantly-inherited spinocerebellar ataxias; early onset Alzheimer's disease; human PSEN1 protein