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Early-Onset Parkinson's Disease in a Patient With a De Novo Frameshift Variant of the Gene and KBG Syndrome.
J Clin Neurol
March 2025
Second Department of Neurology, National and Kapodistrian University of Athens, School of Medicine, "Attikon" University Hospital, Athens, Greece.
Tau filaments with the Alzheimer fold in human MAPT mutants V337M and R406W.
Nat Struct Mol Biol
March 2025
MRC Laboratory of Molecular Biology, Cambridge, UK.
Frontotemporal dementia (FTD) and Alzheimer's disease (AD) are the most common forms of early-onset dementia. Unlike AD, FTD begins with behavioral changes before the development of cognitive impairment. Dominantly inherited mutations in MAPT, the microtubule-associated protein tau gene, give rise to cases of FTD and parkinsonism linked to chromosome 17.
View Article and Find Full Text PDFFrom Diagnosis to Treatment: A Comprehensive Review of Biomarkers and Therapeutic Advances in Parkinson's Disease.
Ann Neurosci
January 2025
Department of Medicine, Jinnah Sindh Medical University, Karachi, Sindh, Pakistan.
Background: Parkinson's disease (PD) is a progressive neurodegenerative disorder characterized by the loss of dopaminergic neurons, resulting in motor symptoms. Ongoing research shows promise for long-term solutions.
Summary: Studies highlight the dysregulation of Syt11 and α-synuclein (α-syn) in PD.
Screening for PRKN and PINK1 mutations in Ecuadorian patients with early-onset Parkinson's Disease.
Neurol Neurochir Pol
February 2025
Department of Neurology, Mayo Clinic, Jacksonville, Florida, United States.
Introduction: Early-onset Parkinson's Disease (EOPD) is a neurodegenerative disease with the clinical manifestation of movement symptoms before the age of 50. Patients with EOPD frequently have a positive family history of disease, with bi-allelic loss of function mutations in PRKN and PINK1 as the most common genetic cause. To date, the majority of genetic studies have been conducted on patients with European ancestry, limiting the understanding of the genetic heterogeneity of EOPD across populations.
View Article and Find Full Text PDFThree Cases of Spinocerebellar Ataxia Type 2 (SCA2) and Pediatric Literature Review: Do Not Forget Trinucleotide Repeat Disorders in Childhood-Onset Progressive Ataxia.
Brain Sci
February 2025
Unit of Muscular and Neurodegenerative Diseases, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.
: Childhood-onset progressive ataxias are rare neurodegenerative disorders characterized by cerebellar signs, sometimes associated with other neurological or extra-neurological features. The autosomal dominant forms, known as spinocerebellar ataxias (SCAs), linked to trinucleotide (i.e.
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