A novel variant of the human mitochondrial DnaJ protein, Tid1, associates with a human disease exhibiting developmental delay and polyneuropathy
Sign Up to like & getrecommendations! Published in 2019 at "European Journal of Human Genetics"
DOI: 10.1038/s41431-019-0358-9
Abstract: Here, we describe a single patient from a consanguineous family, who suffers from developmental delay, intellectual disability, hypermetropia, moderate alternating esotropia, unsteady gait, and peripheral polyneuropathy. Brain MRI revealed basal ganglia disease. Exome analysis disclosed… read more here.
Keywords: protein; developmental delay; tid1; polyneuropathy ... See more keywords
Rare case of anti-CV2 paraneoplastic polyneuropathy associated with lung adenocarcinoma
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DOI: 10.1136/bcr-2022-253686
Abstract: We describe the first case of anti-CV2 paraneoplastic polyneuropathy associated with lung adenocarcinoma. Our patient presented with progressive unsteadiness and numbness involving bilateral upper and lower limbs. He had symmetrical length-dependent lower motor neuron pattern… read more here.
Keywords: polyneuropathy; lung adenocarcinoma; lung; anti cv2 ... See more keywords
Changed cerebral function and morphology serve as neuroimaging evidence for subclinical type 2 diabetic polyneuropathy
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DOI: 10.3389/fendo.2022.1069437
Abstract: Introduction Central and peripheral nervous systems are all involved in type 2 diabetic polyneuropathy mechanisms, but such subclinical changes and associations remain unknown. This study aims to explore subclinical changes of the central and peripheral… read more here.
Keywords: polyneuropathy; function; type diabetic; morphology ... See more keywords
Nerve Ultrasound Comparison Between Transthyretin Familial Amyloid Polyneuropathy and Chronic Inflammatory Demyelinating Polyneuropathy
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DOI: 10.3389/fneur.2021.632096
Abstract: Backgrounds: Transthyretin familial amyloid polyneuropathy (TTR-FAP) is frequently misdiagnosed as chronic inflammatory demyelinating polyneuropathy (CIDP) because of similar phenotypes in the two diseases. This study was intended to identify the role of nerve ultrasonography in… read more here.
Keywords: transthyretin familial; ttr fap; cidp; polyneuropathy ... See more keywords