Clinical and Genetic Characteristics of Parkinson's Disease Patients with Substantia Nigra Hyperechogenicity.

Łukasz Milanowski, Piotr Szukało, Małgorzata Kowalska, Alicja Sikorska, Dorota Hoffman-Zacharska, Dariusz Koziorowski

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Article in International journal of molecular sciences, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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6 authors.

Łukasz MilanowskiDepartment of Neurology, Faculty of Health Science, Medical University of Warsaw, 02-091 Warsaw, Poland.ORCID 0000-0003-4197-8518

Piotr SzukałoStudent Scientific Group, Department of Neurology, Faculty of Health Science, Medical University of Warsaw, 02-091 Warsaw, Poland.

Małgorzata KowalskaDepartment of Neurology, Faculty of Health Science, Medical University of Warsaw, 02-091 Warsaw, Poland.

Alicja SikorskaStudent Scientific Group, Department of Neurology, Faculty of Health Science, Medical University of Warsaw, 02-091 Warsaw, Poland.

Dorota Hoffman-ZacharskaDepartment of Medical Genetics, Institute of Mother and Child, 01-211 Warsaw, Poland.ORCID 0000-0001-7367-512X

Dariusz KoziorowskiDepartment of Neurology, Faculty of Health Science, Medical University of Warsaw, 02-091 Warsaw, Poland.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Hyperechogenicity of the substantia nigra (SN) is observed using transcranial ultrasonography in patients with Parkinson's Disease. In this study, we investigated whether monogenic forms of PD are more prevalent in these patients and clinically defined their characteristics. Eighty-eight PD patients were part of the analysis. All patients received clinical diagnoses from experienced movement disorder specialists. Each patient underwent transcranial ultrasonography and genetic testing for mutations in the

Indexed as

Parkinson DiseaseSubstantia NigraAdultAgedalpha-SynucleinFemaleHumansLeucine-Rich Repeat Serine-Threonine Protein Kinase-2MaleMiddle AgedMutationProtein Deglycase DJ-1Protein KinasesPTEN-Induced Putative KinaseUbiquitin-Protein LigasesUltrasonography, Doppler, Transcranialalpha-SynucleinLeucine-Rich Repeat Serine-Threonine Protein Kinase-2LRRK2 protein, humanparkin proteinProtein Deglycase DJ-1Protein KinasesPTEN-Induced Putative KinaseSNCA protein, humanUbiquitin-Protein Ligasesgeneticshyperechogenicity of substantia nigraParkinson’s Diseasetranscranial ultrasonography

Identifiers

PMID40564955

DOI10.3390/ijms26125492

PMCPMC12193131

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