Neuropathology and molecular diagnosis of Synucleinopathies

S Koga, H Sekiya, N Kondru, OA Ross… - Molecular …, 2021 - Springer
Synucleinopathies are clinically and pathologically heterogeneous disorders characterized
by pathologic aggregates of α-synuclein in neurons and glia, in the form of Lewy bodies …

Clinical neurology and epidemiology of the major neurodegenerative diseases

MG Erkkinen, MO Kim… - Cold Spring Harbor …, 2018 - cshperspectives.cshlp.org
Neurodegenerative diseases are a common cause of morbidity and cognitive impairment in
older adults. Most clinicians who care for the elderly are not trained to diagnose these …

The role of mitochondria in neurodegenerative diseases: the lesson from Alzheimer's disease and Parkinson's disease

G Monzio Compagnoni, A Di Fonzo, S Corti… - Molecular …, 2020 - Springer
Although the pathogenesis of neurodegenerative diseases is still widely unclear, various
mechanisms have been proposed and several pieces of evidence are supportive for an …

Evidence for α-synuclein prions causing multiple system atrophy in humans with parkinsonism

SB Prusiner, AL Woerman… - Proceedings of the …, 2015 - National Acad Sciences
Prions are proteins that adopt alternative conformations that become self-propagating; the
PrPSc prion causes the rare human disorder Creutzfeldt–Jakob disease (CJD). We report …

Multiple-system atrophy

A Fanciulli, GK Wenning - New England Journal of Medicine, 2015 - Mass Medical Soc
Multiple-system atrophy is a neurodegenerative disease characterized by progressive
autonomic failure, parkinsonism, and cerebellar and pyramidal tract symptoms. Glial …

[HTML][HTML] The function of α-synuclein

JT Bendor, TP Logan, RH Edwards - Neuron, 2013 - cell.com
Human genetics has indicated a causal role for the protein α-synuclein in the pathogenesis
of familial Parkinson's disease (PD), and the aggregation of synuclein in essentially all …

A novel α-synuclein mutation A53E associated with atypical multiple system atrophy and Parkinson's disease-type pathology

P Pasanen, L Myllykangas, M Siitonen, A Raunio… - Neurobiology of …, 2014 - Elsevier
We describe the clinical, neuropathological, and genetic features of a Finnish patient with a
novel α-synuclein (SNCA) mutation A53E. The patient was clinically diagnosed with atypical …

Mitochondrial dysfunction in inherited renal disease and acute kidney injury

F Emma, G Montini, SM Parikh, L Salviati - Nature Reviews Nephrology, 2016 - nature.com
Mitochondria are increasingly recognized as key players in genetic and acquired renal
diseases. Most mitochondrial cytopathies that cause renal symptoms are characterized by …

ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption

S Ashraf, HY Gee, S Woerner, LX Xie… - The Journal of …, 2013 - Am Soc Clin Investig
Identification of single-gene causes of steroid-resistant nephrotic syndrome (SRNS) has
furthered the understanding of the pathogenesis of this disease. Here, using a combination …

Progress in unraveling the genetic etiology of Parkinson disease in a genomic era

A Verstraeten, J Theuns, C Van Broeckhoven - Trends in Genetics, 2015 - cell.com
Parkinson disease (PD) and Parkinson-plus syndromes are genetically heterogeneous
neurological diseases. Initial studies into the genetic causes of PD relied on classical …