Results 21 to 30 of about 5,960 (193)

Progressive Myoclonic Epilepsy’-like presentation of Cerebrotendinous Xanthomatosis in an Indian Family with A Novel C.646+1G>A Splice Site Mutation

Epilepsy & Behavior Reports, 2021
Cerebrotendinous Xanthomatosis (CTX) is a rare autosomal-recessive inborn disorder of bile acid metabolism due to mutations in the CYP27A1 gene. It presents with a diverse range of neurological and non-neurological symptoms. We present a case of CTX with
Karan M. Desai, Piyush Kumar, Parthvi S. Ravat, Sangeeta H. Ravat, Neeraj Jain, Shruti Agrawal, Rahil Ansari   +6 more
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A 29-Year-Old Female with Progressive Myoclonus and Cognitive Decline

Case Reports in Neurological Medicine, 2013
Myoclonic epilepsy with red ragged fibres (MERRF) is a rare mitochondrial disorder presenting with progressive myoclonus, epilepsy, and cognitive decline.
D. Taylor, H. R. Haynes, A. Graham, S. Gerhand, K. M. Kurian   +4 more
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Progressive mitochondrial dysfunction in cerebellar synaptosomes of cystatin B-deficient mice

Frontiers in Molecular Neuroscience, 2023
The involvement of mitochondrial dysfunction in cystatin B (CSTB) deficiency has been suggested, but its role in the onset of neurodegeneration, myoclonus, and ataxia in the CSTB-deficient mouse model (Cstb−/−) is yet unknown.
Katarin Gorski, Katarin Gorski, Christopher B. Jackson, Tuula A. Nyman, Veronika Rezov, Veronika Rezov, Brendan J. Battersby, Anna-Elina Lehesjoki, Anna-Elina Lehesjoki   +8 more
doaj   +1 more source

Quantitative Changes in the Mitochondrial Proteome of Cerebellar Synaptosomes From Preclinical Cystatin B-Deficient Mice

Frontiers in Molecular Neuroscience, 2020
Progressive myoclonus epilepsy of Unverricht-Lundborg type (EPM1) is a neurodegenerative disorder caused by loss-of-function mutations in the cystatin B (CSTB) gene.
Katarin Gorski, Katarin Gorski, Albert Spoljaric, Tuula A. Nyman, Kai Kaila, Brendan J. Battersby, Anna-Elina Lehesjoki, Anna-Elina Lehesjoki   +7 more
doaj   +1 more source

Progressive myoclonus epilepsies due to SEMA6B mutations. New variants and appraisal of published phenotypes

Epilepsia Open, 2023
Variants of SEMA6B have been identified in an increasing number of patients, often presenting with progressive myoclonus epilepsy (PME), and to lesser extent developmental encephalopathy, with or without epilepsy.
Barbara Castellotti, Laura Canafoglia, Elena Freri, Maria Tappatà, Giuliana Messina, Stefania Magri, Jacopo C. DiFrancesco, Martina Fanella, Carlo Di Bonaventura, Alessandra Morano, Tiziana Granata, Cinzia Gellera, Silvana Franceschetti, Roberto Michelucci   +13 more
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Association of CSF and PET markers of neurodegeneration with electroclinical progression in Lafora disease

Frontiers in Neurology, 2023
PurposeTo evaluate the electro-clinical features in association with laboratory and instrumental correlates of neurodegeneration to detect the progression of Lafora disease (LD).MethodsWe investigated the electro-clinical longitudinal data and CSF Aβ42 ...
Giuseppe d'Orsi, Andrea Farolfi, Lorenzo Muccioli, Orazio Palumbo, Pietro Palumbo, Sergio Modoni, Vincenzo Allegri, Valentina Garibotto, Maria Teresa Di Claudio, Ester Di Muro, Mario Benvenuto, Francesca Bisulli, Francesca Bisulli, Massimo Carella   +13 more
doaj   +1 more source

Novel SCARB2 mutation in action myoclonus-renal failure syndrome and evaluation of SCARB2 mutations in isolated AMRF features

BMC Neurology, 2011
Background Action myoclonus-renal failure syndrome is a hereditary form of progressive myoclonus epilepsy associated with renal failure. It is considered to be an autosomal-recessive disease related to loss-of-function mutations in SCARB2.
Hopfner Franziska, Schormair Barbara, Knauf Franziska, Berthele Achim, Tölle Thomas R, Baron Ralf, Maier Christoph, Treede Rolf-Detlef, Binder Andreas, Sommer Claudia, Maihöfner Christian, Kunz Wolfram, Zimprich Friedrich, Heemann Uwe, Pfeufer Arne, Näbauer Michael, Kääb Stefan, Nowak Barbara, Gieger Christian, Lichtner Peter, Trenkwalder Claudia, Oexle Konrad, Winkelmann Juliane   +22 more
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Is adjunctive perampanel beneficial for lafora disease? [PDF]

Vojnosanitetski Pregled, 2020
Backgrund/Aim. Lafora disease (LD) is progressive myoclonus epilepsy, characterized by intractable myoclonus and seizures, inevitable neurological deterioration, brutal cognitive decline and poor prognosis. The treatment still remains purely symptomatic.
Stevanović Galina, Jović Nebojša, Kecmanović Miljana   +2 more
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SEMA6B-related progressive myoclonus epilepsy in a patient with Klinefelter syndrome

Эпилепсия и пароксизмальные состояния
In most cases, variants of nucleotide sequence in the SEMA6B gene account for developing the phenotype of progressive myoclonus epilepsy and, to a lesser extent, developmental encephalopathy with or without epilepsy.
T. V. Kozhanova, S. S. Zhilina, T. I. Meshcheryakova, L. M. Sushko, K. V. Osipova, A. M. Mazur, S. S. Fomenko, A. I. Krapivkin, N. N. Zavadenko   +8 more
doaj   +1 more source

FDG-PET findings and alcohol-responsive myoclonus in a patient with Unverricht-Lundborg disease

Epilepsy & Behavior Reports, 2022
The aim of this report is to describe clinical, EEG, and neuroimaging findings in a patient with Unverricht-Lundborg disease (ULD), the most common form of progressive myoclonus epilepsy (PME).
Lorenzo Muccioli, Andrea Farolfi, Federica Pondrelli, Eleonora Matteo, Lorenzo Ferri, Laura Licchetta, Lara Alvisi, Paolo Tinuper, Francesca Bisulli   +8 more
doaj   +1 more source