The natural history of progressive myoclonus Ataxia

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Fältnamn	Indikatorer	Metadata
000		04672naa a2200349 4500
001		oai:lup.lub.lu.se:5bc2b4fb-68ec-4445-8183-10e4e80b7e17
003		SwePub
008		240618s2024 \| \|\|\|\|\|\|\|\|\|\|\|000 \|\|eng\|
024	7	a https://lup.lub.lu.se/record/5bc2b4fb-68ec-4445-8183-10e4e80b7e172 URI
024	7	a https://doi.org/10.1016/j.nbd.2024.1065552 DOI
040		a (SwePub)lu
041		a engb eng
042		9 SwePub
072	7	a art2 swepub-publicationtype
072	7	a ref2 swepub-contenttype
100	1	a van der Veen, Sterreu University of Groningen4 aut
245	1 0	a The natural history of progressive myoclonus Ataxia
264	1	c 2024
520		a Progressive myoclonus ataxia (PMA) is a rare clinical syndrome characterized by the presence of progressive myoclonus and ataxia, and can be accompanied by mild cognitive impairment and infrequent epileptic seizures. This is the first study to describe the natural history of PMA and identify clinical, electrophysiological, and genetic features explaining the variability in disease progression. A Dutch cohort of consecutive patients meeting the criteria of the refined definition of PMA was included. The current phenotype was assessed during in-person consultation by movement disorders experts, and retrospective data was collected to describe disease presentation and progression, including brain imaging and therapy efficacy. Extensive genetic and electrophysiological tests were performed. The presence of cortical hyperexcitability was determined, by either the identification of a cortical correlate of myoclonic jerks with simultaneous electromyography-electroencephalography or a giant somatosensory evoked potential. We included 34 patients with PMA with a median disease duration of 15 years and a clear progressive course in most patients (76%). A molecular etiology was identified in 82% patients: ATM, CAMTA1, DHDDS, EBF3, GOSR2, ITPR1, KCNC3, NUS1, POLR1A, PRKCG, SEMA6B, SPTBN2, TPP1, ZMYND11, and a 12p13.32 deletion. The natural history is a rather homogenous onset of ataxia in the first two years of life followed by myoclonus in the first 5 years of life. Main accompanying neurological dysfunctions included cognitive impairment (62%), epilepsy (38%), autism spectrum disorder (27%), and behavioral problems (18%). Disease progression showed large variability ranging from an epilepsy free PMA phenotype (62%) to evolution towards a progressive myoclonus epilepsy (PME) phenotype (18%): the existence of a PMA-PME spectrum. Cortical hyperexcitability could be tested in 17 patients, and was present in 11 patients and supported cortical myoclonus. Interestingly, post-hoc analysis showed that an absence of cortical hyperexcitability, suggesting non-cortical myoclonus, was associated with the PMA-end of the spectrum with no epilepsy and milder myoclonus, independent of disease duration. An association between the underlying genetic defects and progression on the PMA-PME spectrum was observed. By describing the natural history of the largest cohort of published patients with PMA so far, we see a homogeneous onset with variable disease progression, in which phenotypic evolution to PME occurs in the minority. Genetic and electrophysiological features may be of prognostic value, especially the determination of cortical hyperexcitability. Furthermore, the identification of cortical and non-cortical myoclonus in PMA helps us gain insight in the underlying pathophysiology of myoclonus.
650	7	a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Neurologi0 (SwePub)302072 hsv//swe
650	7	a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Neurology0 (SwePub)302072 hsv//eng
700	1	a Eggink, Hendriekjeu University of Groningen4 aut
700	1	a Elting, Jan Willem Ju University of Groningen4 aut
700	1	a Sival, Deborahu University of Groningen4 aut
700	1	a Verschuuren-Bemelmans, Corien Cu University of Groningen4 aut
700	1	a De Koning, Tom Ju Lund University,Lunds universitet,Pediatrik, Lund,Sektion V,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Paediatrics (Lund),Section V,Department of Clinical Sciences, Lund,Faculty of Medicine,University of Groningen,University Medical Center Groningen4 aut0 (Swepub:lu)to2856jd
700	1	a Tijssen, Marina A Ju University of Groningen4 aut
710	2	a University of Groningenb Pediatrik, Lund4 org
773	0	t Neurobiology of Diseaseg 199q 199x 0969-9961
856	4	u http://dx.doi.org/10.1016/j.nbd.2024.106555x freey FULLTEXT
856	4 8	u https://lup.lub.lu.se/record/5bc2b4fb-68ec-4445-8183-10e4e80b7e17
856	4 8	u https://doi.org/10.1016/j.nbd.2024.106555

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