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Cerebral white matter lesions in patients with dementia – from MCI to severe Alzheimer's disease
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Role for the microtubule-associated protein tau variant p.A152T in risk of α-synucleinopathies
TLDR
The findings suggest that MAPT p.A152T is a rare low penetrance variant likely associated with DLB that may be influenced by coexisting LBD and AD pathology.
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Cognitive impairment and BDNF serum levels.
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Heterozygous PINK1 p.G411S increases risk of Parkinson’s disease via a dominant-negative mechanism
TLDR
Based on genetic and clinical evaluation as well as functional and structural characterization, the p.G411S mutation interferes with ubiquitin phosphorylation by wild-type PINK1 in a heterodimeric complex and impairs the protective functions of the Pink1/parkin-mediated mitochondrial quality control.
View on Wolters Kluwer
Mitochondrial targeting sequence variants of the CHCHD2 gene are a risk for Lewy body disorders
TLDR
Although the role of variants of the CHCHD2 gene in PD and LBD remains to be further elucidated, the rare variants in the mitochondrial targeting sequence may be a risk factor for Lewy body disorders, which may link CHCHd2 to other genetic forms of parkinsonism with mitochondrial dysfunction.
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Parkinsonian syndrome in familial frontotemporal dementia.
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Late-onset Alzheimer disease risk variants mark brain regulatory loci
TLDR
The results suggest that some LOAD GWAS variants mark brain regulatory loci, nominate genes under regulation by LOAD risk variants, and annotate these variants for their brain regulatory effects.
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(Patho‐)physiological relevance of PINK1‐dependent ubiquitin phosphorylation
TLDR
It is shown that pS65‐Ub is reversible and barely detectable under basal conditions, but rapidly induced upon mitochondrial stress in cells and amplified in the presence of functional Parkin.
View on Wiley
[Melkersson-Rosenthal syndrome as a rare cause of recurrent facial nerve palsy].
TLDR
The paper presents a 24-year-old woman with right-sided peripheral facial nerve palsy and a history of left-sided episodes of facial nerves palsy, and magnetic resonance angiography of the cerebral vessels suggested compression of the right seventh and eighth cranial nerves by a vascular loop.
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Early-onset Parkinson's disease due to PINK1 p.Q456X mutation--clinical and functional study.
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