Article
Behavioral Sciences
Marja Aikia, Jelena Hypponen, Esa Mervaala, Reetta Kalviainen
Summary: The cognitive function of EPM1 patients is impaired, particularly in executive function and psychomotor speed. Compared to controls, patients performed worse in immediate and delayed story recall, but only slightly worse in the word list learning task. Patients showed impairment in all executive function tests and psychomotor speed tests.
EPILEPSY & BEHAVIOR
(2021)
Article
Cell & Tissue Engineering
Valeria Lucchino, Luana Scaramuzzino, Stefania Scalise, Katia Grillone, Michela Lo Conte, Claudia Esposito, Umberto Aguglia, Edoardo Ferlazzo, Nicola Perrotti, Paola Malatesta, Elvira Immacolata Parrotta, Giovanni Cuda
Summary: Unverricht-Lundborg disease (ULD) is a progressive myoclonus epilepsy caused by mutations in the CSTB gene, leading to a decrease in the inhibitory activity of lysosomal proteases. This study reported the generation of iPSC lines from two Italian siblings with ULD, who have different clinical and pathological phenotypes and a family history of the disease.
STEM CELL RESEARCH
(2021)
Review
Clinical Neurology
Caihong Ji, Jiajia Zhao, Jianfang Zhang, Kang Wang
Summary: This study reports a novel de novo NUS1 missense variant causing progressive myoclonus epilepsy (PME) and reviews the current literature on NUS1-associated PME. Only five cases of NUS1 variants and PME have been reported so far. The relationship between NUS1 variants and PME is not well-established due to limited cases reported.
NEUROLOGICAL SCIENCES
(2023)
Article
Cell Biology
Valeria Lucchino, Luana Scaramuzzino, Stefania Scalise, Michela Lo Conte, Clara Zannino, Giorgia Lucia Benedetto, Umberto Aguglia, Edoardo Ferlazzo, Giovanni Cuda, Elvira Immacolata Parrotta
Summary: Unverricht-Lundborg disease (ULD), also known as progressive myoclonic epilepsy 1 (EPM1), is a rare autosomal recessive neurodegenerative disorder caused by a repeat expansion in the promoter region of the CSTB gene. Research on two Italian siblings with different ULD phenotypes revealed that phenotypic differences may not be solely dependent on the genetic mutation around the CSTB gene, indicating that other molecular mechanisms could be involved in the disease's complexity.
Article
Clinical Neurology
Hassan Hosny, Mohamed El Tamawy, Riyad Gouider, Gaetan Lesca, Maged Abdel Naseer, Nirmeen Kishk, Mohamed S. Abdel-Hamid, Ayman Ashmawi
Summary: This study confirmed the presence of CSTB gene mutations among Egyptian patients suspected with ULD, with no clear phenotype-genotype correlation observed. Inter and intra familial severity varied among patients from the same family.
Article
Clinical Neurology
Laure Mazzola, Karen L. Oliver, Audrey Labalme, Betul Baykan, Mikko Muona, Tarja H. Joensuu, Carolina Courage, Nicolas Chatron, Giuseppe Borsani, Eudeline Alix, Francis Ramond, Renaud Touraine, Melanie Bahlo, Nerses Bebek, Samuel F. Berkovic, Anna-Elina Lehesjoki, Gaetan Lesca
Summary: Exome sequencing in two unrelated families with progressive myoclonus epilepsy revealed a rare homozygous variant affecting a splice site in the SLC7A6OS gene. Functional analysis showed partial splice site abolition and abnormal isoform creation. Haplotype analysis identified a shared genomic region on chromosome 16q, suggesting a common ancestor. The results suggest that biallelic loss-of-function variants in SLC7A6OS are a novel genetic cause of progressive myoclonus epilepsy.
ANNALS OF NEUROLOGY
(2021)
Article
Neurosciences
Katarin Gorski, Christopher B. B. Jackson, Tuula A. A. Nyman, Veronika Rezov, Brendan J. J. Battersby, Anna-Elina Lehesjoki
Summary: Mitochondrial dysfunction is associated with cystatin B deficiency and contributes to the onset and progression of neurodegeneration and myoclonus in a mouse model. The deficiency of cystatin B leads to differential expression of mitochondrial and synaptic proteins and impairs mitochondrial function in synaptic mitochondria, without affecting mitochondrial DNA copy number or membrane ultrastructure.
FRONTIERS IN MOLECULAR NEUROSCIENCE
(2023)
Article
Clinical Neurology
Guenter Kraemer
Summary: Progressive myoclonic epilepsies (PME) are a diverse group of diseases that initially present with severe and refractory myoclonias and epileptic seizures in normally developed children and adolescents, and occasionally in adults. The progression of the disease also involves symptoms such as ataxia and cognitive impairment, leading to dementia. This article briefly reviews the 12 genetically differentiated forms of PME and discusses the associated disorders and genes. Therapeutic aspects are also mentioned briefly.
CLINICAL EPILEPTOLOGY
(2023)
Article
Clinical Neurology
Elena Gardella, Roberto Michelucci, Hanne M. Christensen, Christina D. Fenger, Chiara Reale, Patrizia Riguzzi, Elena Pasini, Luca Albini-Riccioli, Valentina Papa, Maria Pia Foschini, Giovanna Cenacchi, Francesca Furia, Dragan Marjanovic, Trine B. Hammer, Rikke S. Moller, Guido Rubboli
Summary: IRF2BPL has been identified as a new cause of neurodevelopmental disorders, presenting with multisystemic regression, epilepsy, cerebellar symptoms, dysphagia, dystonia, and pyramidal signs. This study describes a novel IRF2BPL phenotype consistent with progressive myoclonus epilepsy (PME) in three subjects and reviews previous cases. The findings suggest that PME can be an additional phenotype within the spectrum of IRF2BPL-related disorders and IRF2BPL as a novel causative gene for PME.
Article
Neurosciences
Eduard Daura, Saara Tegelberg, Masahito Yoshihara, Christopher Jackson, Francesca Simonetti, Katri Aksentjeff, Sini Ezer, Paula Hakala, Shintaro Katayama, Juha Kere, Anna-Elina Lehesjoki, Tarja Joensuu
Summary: CSTB deficiency disrupts brain development by regulating chromatin structure during neural stem cell renewal and differentiation, leading to significant transcriptional changes and impaired mitochondrial respiration.
NEUROBIOLOGY OF DISEASE
(2021)
Article
Clinical Neurology
Abolfazl Yari, Reza Molla Ali-Nejad, Nasrollah Saleh-Gohari
Summary: This study identified a homozygous splicing c.423+1 G>A variant in the SCARB2 gene in an Iranian family with two affected individuals, suggesting a potential pathogenic role in causing progressive myoclonic epilepsy-4. The variant was not found in genetic databases, predicted to affect the 5' donor splice site, and classified as a likely pathogenic variant according to ACMG standards and guidelines.
NEUROLOGICAL SCIENCES
(2021)
Article
Genetics & Heredity
Lea Hentrich, Mered Parnes, Timothy Edward Lotze, Rohini Coorg, Tom J. de Koning, Kha M. Nguyen, Calvin K. Yip, Heinz Jungbluth, Anne Koy, Hormos Salimi Dafsari
Summary: Biallelic variants in the GOSR2 gene can lead to progressive myoclonus epilepsy with neurodegeneration. This study reports two new patients with GOSR2-related disorders and novel genetic and clinical findings.
Review
Clinical Neurology
Giovanni Assenza, Cristofaro Nocerino, Mario Tombini, Giancarlo Di Gennaro, Alfredo D'Aniello, Alberto Verrotti, Alfonso Marrelli, Lorenzo Ricci, Jacopo Lanzone, Vincenzo Di Lazzaro, Leonilda Bilo, Antonietta Coppola
Summary: Perampanel showed significant improvement in symptoms of PMEs patients, particularly in myoclonus, disability, and seizures, with the best response seen in individuals with Unverricht-Lundborg disease. While no prospective trials were found, a systematic review revealed that the majority of patients had positive responses to perampanel.
FRONTIERS IN NEUROLOGY
(2021)
Letter
Clinical Neurology
Jinhee Kim, Ilsoo Kim, Seong-Beom Koh
Summary: A novel variant of DHDDS mutation was reported in a patient with progressive adult-onset myoclonus ataxia. The mutation in this patient differed from previous reports of denovo mutations in DHDDS in 6 patients who exhibited tremor-like myoclonus and generalized epilepsy.
PARKINSONISM & RELATED DISORDERS
(2021)
Article
Clinical Neurology
Elinor Ben-Menachem, Michel Baulac, Seung Bong Hong, Jody M. Cleveland, Christoph Reichel, Anne-Liv Schulz, Gilbert Wagener, Christian Brandt
Summary: This study evaluated the long-term safety, tolerability, and efficacy of brivaracetam (BRV) in patients with epilepsy. The findings suggest that BRV is well-tolerated as a long-term adjunctive therapy in patients with focal seizures, generalized onset seizures, or Unverricht-Lundborg disease, with sustained improvements in focal seizure frequency.
Article
Substance Abuse
Noora Heikkinen, Olli Karkkainen, Eila Laukkanen, Virve Kekkonen, Outi Kaarre, Petri Kivimaki, Mervi Kononen, Vidya Velagapudi, Jatin Nandania, Soili M. Lehto, Eini Niskanen, Ritva Vanninen, Tommi Tolmunen
Article
Radiology, Nuclear Medicine & Medical Imaging
S. Joukainen, A. Masarwah, M. Koenoenen, M. Husso, A. Sutela, V. Karja, R. Vanninen, M. Sudah
EUROPEAN RADIOLOGY
(2019)
Article
Clinical Neurology
Janne Pesonen, Marinko Rade, Mervi Kononen, Jarkko Marttila, Michael Shacklock, Ritva Vanninen, Markku Kankaanpaa, Olavi Airaksinen
Article
Radiology, Nuclear Medicine & Medical Imaging
Auni Lindgren, Maarit Anttila, Otso Arponen, Suvi Rautiainen, Mervi Kononen, Ritva Vanninen, Hanna Sallinen
EUROPEAN JOURNAL OF RADIOLOGY
(2019)
Article
Multidisciplinary Sciences
Auni Lindgren, Maarit Anttila, Suvi Rautiainen, Otso Arponen, Kirsi Hamalainen, Mervi Kononen, Ritva Vanninen, Hanna Sallinen
Article
Clinical Neurology
Sini Sipari, Matti Iso-Mustajarvi, Mervi Kononen, Heikki Lopponen, Aarno Dietz
OTOLOGY & NEUROTOLOGY
(2020)
Article
Multidisciplinary Sciences
Shohreh Kariminezhad, Jari Karhu, Laura Saisanen, Mervi Kononen, Petro Julkunen
SCIENTIFIC REPORTS
(2019)
Article
Biochemical Research Methods
Jusa Reijonen, Laura Saisanen, Mervi Kononen, Ali Mohammadi, Petro Julkunen
JOURNAL OF NEUROSCIENCE METHODS
(2020)
Article
Clinical Neurology
Qin Shen, Noora Heikkinen, Olli Karkkainen, Heidi Grohn, Mervi Kononen, Yawu Liu, Outi Kaarre, Zishu Zhang, Changlian Tan, Tommi Tolmunen, Ritva Vanninen
PSYCHIATRY RESEARCH-NEUROIMAGING
(2019)
Article
Biochemistry & Molecular Biology
Nicole A. Datson, Suzanne Bijl, Anneke Janson, Janwillem Testerink, Rani van den Eijnde, Rudie Weij, Jukka Puolivali, Kimmo Lehtimaki, Timo Bragge, Toni Ahtoniemi, Judith C. van Deutekom
NUCLEIC ACID THERAPEUTICS
(2020)
Article
Neurosciences
Jani Sirkka, Laura Saisanen, Petro Julkunen, Mervi Kononen, Elisa Kallioniemi, Ville Leinonen, Nils Danner
FLUIDS AND BARRIERS OF THE CNS
(2020)
Article
Behavioral Sciences
Maksym Kopanitsa, Kimmo K. Lehtimaki, Markku Forsman, Ari Suhonen, Juho Koponen, Tuukka O. Piiponniemi, Anna-Mari Karkkainen, Pavlina Pavlidi, Artem Shatillo, Patrick J. Sweeney, Avia Merenlender-Wagner, Joel Kaye, Aric Orbach, Antti Nurmi
Summary: The study revealed that mice treated with cuprizone exhibited multiple cognitive deficits, including slower responses, more errors, and significantly lower levels of contextual freezing. Diffusion tensor imaging showed treatment-dependent changes in white matter areas, indicating developing demyelination and/or axonal damage. The findings suggest that translational touchscreen operant tests and fear conditioning paradigms can reliably detect cognitive consequences of cuprizone treatment.
GENES BRAIN AND BEHAVIOR
(2021)
Review
Neurosciences
Tyler B. Johnson, Jon J. Brudvig, Kimmo K. Lehtimaki, Jacob T. Cain, Katherine A. White, Timo Bragge, Jussi Rytkonen, Tuulia Huhtala, Derek Timm, Maria Vihma, Jukka T. Puolivali, Pekka Poutiainen, Antti Nurmi, Jill M. Weimer
PROGRESS IN NEUROBIOLOGY
(2020)
Article
Neurosciences
Shohreh Kariminezhad, Jari Karhu, Laura Saisanen, Jusa Reijonen, Mervi Kononen, Petro Julkunen
Article
Chemistry, Medicinal
Tuulia Huhtala, Pekka Poutiainen, Jussi Rytkonen, Kimmo Lehtimaki, Teija Parkkari, Iiris Kasanen, Anu J. Airaksinen, Teija Koivula, Patrick Sweeney, Outi Kontkanen, John Wityak, Celia Dominiquez, Larry C. Park
EJNMMI RADIOPHARMACY AND CHEMISTRY
(2019)
