Ataxia and Action Myoclonus Related to Novel Mutations in ATP13A2 Gene
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DOI: 10.1002/mdc3.13260
Abstract: Mutations in the ATP13A2 gene have been causally associated with Kufor-Rakeb syndrome and later with neuronal ceroid lipofuscinosis and a complicated form of hereditary spastic paraplegia (SPG78). The ATP13A2 gene encodes a lysosomal 5Ptype ATPase… read more here.
Keywords: atp13a2 gene; ataxia; action myoclonus; myoclonus ... See more keywords
Posthypoxic action myoclonus (the Lance-Adams syndrome)
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DOI: 10.1136/bcr-2020-234332
Abstract: A 62-year-old man was resuscitated after an in-hospital pulseless electrical activity (PEA) cardiac arrest. He awakened after 24 hours but after another 24-hour interval, he had worsening action and stimulus-induced myoclonus.[1–3][1] He was able to relax… read more here.
Keywords: action myoclonus; adams syndrome; posthypoxic action; myoclonus lance ... See more keywords
Renal Pathological Findings in Action Myoclonus-Renal Failure Syndrome
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DOI: 10.1159/000503067
Abstract: Action myoclonus – renal failure is a rare syndrome associated with a progressive myoclonic epilepsy and renal impairment that may lead to end-stage renal failure. It is an autosomal recessive genetic disease related to a… read more here.
Keywords: renal failure; action myoclonus; renal pathological; failure ... See more keywords