Cellular prion protein dysfunction in a prototypical inherited metabolic myopathy
نویسندگان
چکیده
منابع مشابه
Targeting Cellular Prion Protein Reverses Early Cognitive Deficits and Neurophysiological Dysfunction in Prion-Infected Mice
Currently, no treatment can prevent the cognitive and motor decline associated with widespread neurodegeneration in prion disease. However, we previously showed that targeting endogenous neuronal prion protein (PrP(C)) (the precursor of its disease-associated isoform, PrP(Sc)) in mice with early prion infection reversed spongiform change and prevented clinical symptoms and neuronal loss. We now...
متن کاملHypernatremic metabolic myopathy due to hypothalamic dysfunction.
We report a patient with muscle weakness secondary to elevated serum sodium level. The cause of the elevated sodium level and the mechanism involved in producing muscle weakness are discussed.
متن کاملInherited prion disease with A117V mutation of the prion protein gene: a novel Hungarian family.
Three members of a family with inherited prion disease are reported. One additional family member had a progressive neurological disease without details. Two developed symptoms of ataxia, dementia, myoclonus, rigidity, and hemiparesis, and one had a different phenotype with the combination of lower motor neuron deficit, parkinsonism, intellectual decline, and ataxia. In this last patient cell l...
متن کاملDominantly inherited tubular aggregate myopathy.
We report an unusual familial myopathy characterized morphologically by the presence of large tubular aggregates in all fibre types. Two patients, a father and daughter, presented with slowly progressive proximal weakness, limitation of eye movement, and Achilles tendon contractures. Serum creatine kinase was 5-10 times normal. Light microscopy revealed type I fibre predominance. Basophilic acc...
متن کاملFilamentous white matter prion protein deposition is a distinctive feature of multiple inherited prion diseases
BACKGROUND Sporadic, inherited and acquired prion diseases show distinct histological patterns of abnormal prion protein (PrP) deposits. Many of the inherited prion diseases show striking histological patterns, which often associate with specific mutations. Most reports have focused on the pattern of PrP deposition in the cortical or cerebellar grey matter. RESULTS We observed that the subcor...
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ژورنال
عنوان ژورنال: Cellular and Molecular Life Sciences
سال: 2020
ISSN: 1420-682X,1420-9071
DOI: 10.1007/s00018-020-03624-6