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

Luigi Michele Romito; Sara Prioni; Arianna Braccia; Marcella Catania; Antonio Emanuele Elia; Francesco Dondi; Silvia Lucchini; Francesco Bertagna; Sylvie H M J Piacentini; Roberto Eleopra; Giuseppe Di Fede

doi:10.1016/j.jns.2023.120846

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

J Neurol Sci. 2023 Nov 15:454:120846. doi: 10.1016/j.jns.2023.120846. Epub 2023 Oct 20.

Affiliations

¹ Movement Disorders Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Health Sciences, University of Milan, Milan, Italy. Electronic address: [email protected].
² Neuropsychology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
³ Movement Disorders Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
⁴ Neuropathology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
⁵ Division of Nuclear Medicine, ASST Spedali Civili di Brescia, Italy.
⁶ 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.

PMID: 38236755
DOI: 10.1016/j.jns.2023.120846

No abstract available

Keywords: Cognitive impairment; DAT SCAN; Dementia; Dysarthria; Dystonia; Juvenile parkinsonism; PSEN1; PSEN2; PSEN2 Ile149Thr; Parkinson; Presenilin; Stereotypy; Voice; Whispering.

Publication types

Case Reports
Letter
Research Support, Non-U.S. Gov't

MeSH terms

Alzheimer Disease* / genetics
Cognitive Dysfunction* / complications
Cognitive Dysfunction* / genetics
Dystonia* / complications
Dystonia* / genetics
Humans
Mutation
Parkinsonian Disorders* / complications
Parkinsonian Disorders* / genetics
Phenotype
Presenilin-1 / genetics
Presenilin-2 / genetics

Substances

Presenilin-1
Presenilin-2
PSEN2 protein, human