Pregnancy in women with early-onset Parkinson's disease (PD) is likely to have a higher frequency given the trend toward increasing maternal age, thus resulting in a greater overlap time between childbearing age and PD risk. Deep brain stimulation (DBS) therapy is nowadays offered to PD patients at earlier stage of the disease, when women can still be pre-menopausal. However, few data are available about DBS safety during pregnancy. From a review of the available literature, only one article was published on this topic so far. Therefore, we have developed a clinical consensus on the safety of DBS during pregnancy in PD patients.
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http://dx.doi.org/10.3233/JPD-240088 | DOI Listing |
Parkinsonism Relat Disord
December 2024
Department of Neurology, Medical University of Vienna, Vienna, Austria; Comprehensive Center for Clinical Neurosciences & Mental Health, Medical University of Vienna, Vienna, Austria. Electronic address:
Background: Variants in the UQCRC1 gene have been proposed to cause autosomal dominant Parkinson's disease with neuropathy. However, definitive confirmation of UQCRC1 as an authentic Parkinson's gene remains elusive, as follow-up studies have not yet provided conclusive evidence.
Methods: 382 Austrian Parkinson's patients, particularly selected for familial and/or early onset cases, were Exome sequenced.
Alzheimers Dement
December 2024
Memory & Aging Center, Department of Neurology, University of California in San Francisco, San Francisco, CA, USA.
Background: Lewy body disease (LBD) often co-occurs with Alzheimer's (AD), resulting in more significant cognitive decline than AD or LBD alone. LBD's hallmarks, asyn-positive Lewy bodies and neurites, propagate from the enteric system or olfactory bulb to the amygdala, which acts as a gatekeeper for spread to other structures. Initially, LBD appears in the central or cortical nuclei, reflecting brainstem or olfactory origins.
View Article and Find Full Text PDFAnn Neurol
December 2024
Department of Neurology, Faculty of Medicine, Juntendo University, Tokyo, Japan.
Objective: Variants in PRKN and PINK1 are the leading cause of early-onset autosomal recessive Parkinson's disease, yet many cases remain genetically unresolved. We previously identified a 7 megabases complex structural variant in a pair of monozygotic twins using Oxford Nanopore Technologies (ONT) long-read sequencing. This study aims to determine if ONT long-read sequencing can detect a second variant in other unresolved early-onset Parkinson's disease (EOPD) cases with 1 heterozygous PRKN or PINK1 variant.
View Article and Find Full Text PDFAutophagy
December 2024
Department of Biochemistry and Centre de Recherche en Biologie Structurale, McGill University, Montreal, QC, Canada.
Parkinson disease (PD) is a neurodegenerative disease characterized by the loss of dopaminergic neurons in the , primarily due to mitochondria dysfunction. PRKN (parkin RBR E3 ubiquitin protein ligase) and PINK1 (PTEN induced kinase 1) are linked to early-onset cases of PD and essential for the clearance of damaged mitochondria via selective mitochondrial autophagy (mitophagy). In a recent publication, we detail how a small molecule can activate PRKN mutants that are unable to be phosphorylated, restoring mitophagy in cellular assays.
View Article and Find Full Text PDFBiophys Chem
December 2024
School of Biotechnology, Jawaharlal Nehru University, New Delhi 110067, India. Electronic address:
Parkinson's disease (PD) is a neurodegenerative disorder involving the progressive loss of dopaminergic neurons in the substantia nigra pars compacta triggered by the accumulation of amyloid aggregates of α-synuclein protein. This study investigates the potential of Salvianolic Acid B (SalB), a water-soluble polyphenol derived from Salvia miltiorrhiza Bunge, in modulating the aggregation of the A53T mutant of α-synuclein (A53T Syn). This mutation is associated with rapid aggregation and a higher rate of protofibril formation in early-onset familial PD.
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