We analyze the main clinical characteristics of a series of 800 patients seen by us, who had movement disorders which had started during childhood. The results are compared with those movement disorders of adult onset reported in the literature.
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Neuropsychopharmacol Rep
March 2025
Department of Neurology, Hirosaki University Graduate School of Medicine, Hirosaki, Japan.
Aim: We aimed to create a rat model of drug-induced parkinsonism and tardive dyskinesia by chronic administration of haloperidol and examine the expression of direct and indirect pathway markers in the striatum of the model rats.
Methods: We treated 21 rats, 14 with haloperidol decanoate and 7 with placebo. The number of vacuous chewing movements per 2 min was counted, and haloperidol-treated rats were classified into two groups: mild and severe tardive dyskinesia.
Sci Rep
January 2025
Department of Neurology, Neurological Institute, Taichung Veterans General Hospital, No. 1650, Taiwan Boulevard, Section 4, Taichung, 40705, Taiwan.
This study investigates whether incorporating olfactory dysfunction into motor subtypes of Parkinson's disease (PD) improves associations with clinical outcomes. PD is commonly divided into motor subtypes, such as postural instability and gait disturbance (PIGD) and tremor-dominant PD (TDPD), but non-motor symptoms like olfactory dysfunction remain underexplored. We assessed 157 participants with PD using the University of Pennsylvania Smell Identification Test (UPSIT), Movement Disorder Society-Sponsored Revision of the Unified Parkinson's Disease Rating Scale (M-UPDRS), Montreal Cognitive Assessment (MoCA), 39-item Parkinson's Disease Questionnaire Summary Index (PDQ-39 SI), and 99mTc-TRODAT-1 imaging.
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January 2025
Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Rare diseases may affect the quality of life of patients and be life-threatening. Therapeutic opportunities are often limited, in part because of the lack of understanding of the molecular mechanisms underlying these diseases. This can be ascribed to the low prevalence of rare diseases and therefore the lower sample sizes available for research.
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January 2025
Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA.
Background: Perry syndrome (PS) is a rare and fatal hereditary autosomal dominant neurodegenerative disorder caused by mutations in dynactin (DCTN1). PS brains accumulate inclusions positive for ubiquitin, transactive-response DNA-binding protein of 43 kDa (TDP-43), and to a lesser extent dynactin.
Objectives: Little is known regarding the contributions of TDP-43, an RNA binding protein that represses cryptic exon inclusion, in PS.
Anal Chim Acta
January 2025
Department of Chemistry, University of Nebraska-Lincoln, Lincoln, NE, USA. Electronic address:
Background: DJ-1 is a protein whose mutation causes rare heritable forms of Parkinson's disease (PD) and is of interest as a target for treating PD and other disorders. This work used high performance affinity microcolumns to screen and examine the binding of small molecules to DJ-1, as could be used to develop new therapeutics or to study the role of DJ-1 in PD. Non-covalent entrapment was used to place microgram quantities of DJ-1 in an unmodified form within microcolumns, which were then used in multiple studies to analyze binding by model compounds and possible drug candidates to DJ-1.
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