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Rare causes of dystonia-parkinsonism with cognitive impairment, behavioral abnormalities, and voiceless whispering stereotypies: Describing the long-term evolution of the neurological phenotype in a patient with the PSEN2 Ile149Thr variant.
Romito, Luigi Michele; Prioni, Sara; Braccia, Arianna; Catania, Marcella; Elia, Antonio Emanuele; Dondi, Francesco; Lucchini, Silvia; Bertagna, Francesco; Piacentini, Sylvie H M J; Eleopra, Roberto; Di Fede, Giuseppe.
Affiliation
  • Romito LM; Movement Disorders Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Health Sciences, University of Milan, Milan, Italy. Electronic address: luigi.romito@istituto-besta.it.
  • Prioni S; Neuropsychology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • Braccia A; Movement Disorders Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • Catania M; Neuropathology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • Elia AE; Movement Disorders Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • Dondi F; Division of Nuclear Medicine, ASST Spedali Civili di Brescia, Italy.
  • Lucchini S; Division of Nuclear Medicine, ASST Spedali Civili di Brescia, Italy.
  • Bertagna F; Division of Nuclear Medicine, ASST Spedali Civili di Brescia, Italy; Department of Medical and Surgical Specialties, Radiological Sciences, and Public Health, Nuclear Medicine, University of Brescia, Italy.
  • Piacentini SHMJ; Neuropsychology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • Eleopra R; Movement Disorders Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • Di Fede G; Neuropathology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
J Neurol Sci ; 454: 120846, 2023 11 15.
Article in En | MEDLINE | ID: mdl-38236755

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Parkinsonian Disorders / Dystonia / Alzheimer Disease / Cognitive Dysfunction Type of study: Etiology_studies Limits: Humans Language: En Journal: J Neurol Sci Year: 2023 Document type: Article Country of publication: Netherlands

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Parkinsonian Disorders / Dystonia / Alzheimer Disease / Cognitive Dysfunction Type of study: Etiology_studies Limits: Humans Language: En Journal: J Neurol Sci Year: 2023 Document type: Article Country of publication: Netherlands