The natural history of progressive myoclonus Ataxia

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van der Veen, SterreUniversity of Groningen (författare)

The natural history of progressive myoclonus Ataxia

Artikel/kapitelEngelska2024

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2024

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LIBRIS-ID:oai:lup.lub.lu.se:5bc2b4fb-68ec-4445-8183-10e4e80b7e17
https://lup.lub.lu.se/record/5bc2b4fb-68ec-4445-8183-10e4e80b7e17URI
https://doi.org/10.1016/j.nbd.2024.106555DOI

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Språk:engelska
Sammanfattning på:engelska

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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.

Ämnesord och genrebeteckningar

MEDICIN OCH HÄLSOVETENSKAP Klinisk medicin Neurologi hsv//swe
MEDICAL AND HEALTH SCIENCES Clinical Medicine Neurology hsv//eng

Biuppslag (personer, institutioner, konferenser, titlar ...)

Eggink, HendriekjeUniversity of Groningen (författare)
Elting, Jan Willem JUniversity of Groningen (författare)
Sival, DeborahUniversity of Groningen (författare)
Verschuuren-Bemelmans, Corien CUniversity of Groningen (författare)
De Koning, Tom JLund 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 Groningen(Swepub:lu)to2856jd (författare)
Tijssen, Marina A JUniversity of Groningen (författare)
University of GroningenPediatrik, Lund (creator_code:org_t)

Sammanhörande titlar

Ingår i:Neurobiology of Disease1990969-9961

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Av författaren/redakt...: van der Veen, St ...; Eggink, Hendriek ...; Elting, Jan Will ...; Sival, Deborah; Verschuuren-Beme ...; De Koning, Tom J; visa fler...; Tijssen, Marina ...; visa färre...

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