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
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.
Review
Clinical Neurology
Junfeng Zhang, Meng Wang, Baoyu Wei, Jiangwei Shi, Tao Yu
Summary: This paper summarizes the characteristics and changes of the startle reflex in physiological and pathological states by analyzing multiple databases.
NEUROPSYCHIATRIC DISEASE AND TREATMENT
(2022)
Article
Neurosciences
Inken Piro, Anna-Lena Eckes, Vikram Babu Kasaragod, Claudia Sommer, Robert J. Harvey, Natascha Schaefer, Carmen Villmann
Summary: Startle disease is a rare disorder associated with mutations in GLRA1 and GLRB, affecting fast synaptic inhibitory transmission in the spinal cord and brainstem. Studies on GLRB missense mutations Y252S, S321F, and A455P suggest structural changes impacting GlyR β-gephyrin interactions, with the latter two mutations leading to increased surface area and perimeter of GlyR β subunit aggregates.
FRONTIERS IN MOLECULAR NEUROSCIENCE
(2021)
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
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
Aku Sinokki, Laura Saisanen, Jelena Hypponen, Katri Silvennoinen, Reetta Kalviainen, Esa Mervaala, Pasi A. Karjalainen, Saara M. Rissanen
Summary: This study aimed to develop a feasible method for detecting negative myoclonus (NM) through long-term home measurements. Using wearable surface electromyography (EMG) sensors and a newly developed algorithm, silent periods associated with NM were objectively detected and correlated with video-recorded and physician-evaluated myoclonus rating scale scores.
CLINICAL NEUROPHYSIOLOGY
(2023)
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
Clinical Neurology
Jayant N. N. Acharya, Vinita J. J. Acharya
Summary: Myoclonus can be divided into epileptic and nonepileptic types. Juvenile myoclonic epilepsy (JME) is a common idiopathic generalized epilepsy with characteristic myoclonic, tonic-clonic, and absence seizures. Recent studies have shown neurological and imaging abnormalities in the frontal lobes and thalamus of JME patients. Progressive myoclonic epilepsy is a distinct syndrome with various specific causes and can be challenging to differentiate from JME or misdiagnosed as drug-resistant JME. Neurophysiological tests can help distinguish between JME and progressive myoclonic epilepsy, as well as different forms of progressive myoclonic epilepsy (EPM1 and EPM2).
JOURNAL OF CLINICAL NEUROPHYSIOLOGY
(2023)
Article
Clinical Neurology
Saara M. Rissanen, Jelena Hypponen, Katri Silvennoinen, Laura Saisanen, Pasi A. Karjalainen, Esa Mervaala, Reetta Kalviainen
Summary: The study developed and tested a wearable monitoring device for detection and quantification of myoclonus in EPM1 patients, finding that the device effectively detected myoclonus and was correlated with different evaluation methods.
CLINICAL NEUROPHYSIOLOGY
(2021)
Review
Clinical Neurology
Burcu Atasu, Ayse Nur Ozdag Acarli, Basar Bilgic, Betul Baykan, Erol Demir, Yasemin Ozluk, Aydin Turkmen, Ann-Kathrin Hauser, Gamze Guven, Hasmet Hanagasi, Hakan Gurvit, Murat Emre, Thomas Gasser, Ebba Lohmann
Summary: This study shows that biallelic pathogenic variants in the SCARB2 gene can cause a spectrum of features associated with AMRF. Common features include myoclonus, ataxia, seizures, dysarthria, tremor, and renal impairment, while uncommon features involve peripheral neuropathy, hearing loss, and cognitive impairment. The C terminal localization of the pathogenic variant significantly affects the age at onset of the disease.
Article
Pediatrics
Rosa Elizabeth Marquez-Palacios, Blanca Fabiola Fajardo-Fregoso, Victor Manuel Martinez-Avila, Karla Denisse Barajas-Galvan, Claudia Esther Paz-Navarro, Maria Alejandra Soto-Blanquel, Teresita Villasenor-Cabrera, Edgar Daniel del Rio-Mendoza, Hugo Ceja-Moreno
Summary: This study presents a case of a 15-year-old female patient with Lafora's disease, a rare and fatal neurological disorder. The patient exhibited progressive myoclonic epilepsy, cognitive impairment, and visual problems. Despite comprehensive evaluation, no specific treatment was available for Lafora's disease. The study highlights the challenging diagnosis of progressive myoclonic epilepsies and the need for more aggressive management to improve patients' quality of life.
ACTA PEDIATRICA DE MEXICO
(2022)
Review
Clinical Neurology
Eduardo Rubio-Nazabal, Purificacion Alvarez-Perez, Carlos Cores-Bartolome, Teresa Lema-Facal
Summary: This article reports a case of a Lafora disease patient who had a good therapeutic response to zonisamide after being resistant to multiple antiepileptic drugs. Zonisamide may be considered as a good treatment alternative in MPE.
REVISTA DE NEUROLOGIA
(2022)
Article
Clinical Neurology
Andreea Ilinca, Nicolas Martinez-Majander, Sofie Samuelsson, Paul Piccinelli, Katarina Truve, John Cole, Steven Kittner, Maria Soller, Ulf Kristoffersson, Turgut Tatlisumak, Andreas Puschmann, Jukka Putaala, Arne Lindgren
Editorial Material
Clinical Neurology
Shinsuke Fujioka, Andreas Puschmann
PARKINSONISM & RELATED DISORDERS
(2020)
Article
Genetics & Heredity
Andreea Ilinca, Elisabet Englund, Sofie Samuelsson, Katarina Truve, Efthymia Kafantari, Nicolas Martinez-Majander, Jukka Putaala, Claes Hakansson, Arne G. Lindgren, Andreas Puschmann
Summary: A study on a Swedish kindred revealed that tremor, dysautonomia, cognitive decline, and other symptoms may be related to a heterozygous variant in the MAP3K6 gene, potentially causing a novel genetic mechanism for cerebral small vessel disease and stroke. Further research is needed to confirm the pathogenicity of this variant due to a lack of functional data and additional families with the same disease and MAP3K6 mutations.
NEUROLOGY-GENETICS
(2021)
Article
Neurosciences
Emil Ygland Roedstroem, Andreas Puschmann
Summary: This study compared the capabilities of two clinical classification systems in Parkinson's disease and found that the motor-nonmotor system performed better in stratifying risks, especially in predicting outcomes in mid-late stages of the disease. Furthermore, removing the tremor aspect from motor-phenotypes significantly improved this system.
NPJ PARKINSONS DISEASE
(2021)
Article
Clinical Neurology
Cloe Domenighetti, Pierre-Emmanuel Sugier, Ashwin Ashok Kumar Sreelatha, Claudia Schulte, Sandeep Grover, Oceane Mohamed, Berta Portugal, Patrick May, Dheeraj R. Bobbili, Milena Radivojkov-Blagojevic, Peter Lichtner, Andrew B. Singleton, Dena G. Hernandez, Connor Edsall, George D. Mellick, Alexander Zimprich, Walter Pirker, Ekaterina Rogaeva, Anthony E. Lang, Sulev Koks, Pille Taba, Suzanne Lesage, Alexis Brice, Jean-Christophe Corvol, Marie-Christine Chartier-Harlin, Eugenie Mutez, Kathrin Brockmann, Angela B. Deutschlaender, Georges M. Hadjigeorgiou, Efthimos Dardiotis, Leonidas Stefanis, Athina Maria Simitsi, Enza Maria Valente, Simona Petrucci, Stefano Duga, Letizia Straniero, Anna Zecchinelli, Gianni Pezzoli, Laura Brighina, Carlo Ferrarese, Grazia Annesi, Andrea Quattrone, Monica Gagliardi, Hirotaka Matsuo, Yusuke Kawamura, Nobutaka Hattori, Kenya Nishioka, Sun Ju Chung, Yun Joong Kim, Pierre Kolber, Bart P. C. van de Warrenburg, Bastiaan R. Bloem, Jan Aasly, Mathias Toft, Lasse Pihlstrom, Leonor Correia Guedes, Joaquim J. Ferreira, Soraya Bardien, Jonathan Carr, Eduardo Tolosa, Mario Ezquerra, Pau Pastor, Monica Diez-Fairen, Karin Wirdefeldt, Nancy L. Pedersen, Caroline Ran, Andrea C. Belin, Andreas Puschmann, Clara Hellberg, Carl E. Clarke, Karen E. Morrison, Manuela Tan, Dimitri Krainc, Lena F. Burbulla, Matt J. Farrer, Rejko Kruger, Thomas Gasser, Manu Sharma, Alexis Elbaz
Summary: There is an association between genetically predicted dairy intake and Parkinson's disease, particularly in men. This causal relationship is not explained by reverse causation or confounding factors, as confirmed by Mendelian randomization analysis.
MOVEMENT DISORDERS
(2022)
Editorial Material
Clinical Neurology
Andreea Ilinca, Efthymia Kafantari, Andreas Puschmann
PARKINSONISM & RELATED DISORDERS
(2022)
Article
Neurosciences
Kajsa Brolin, Sara Bandres-Ciga, Cornelis Blauwendraat, Hakan Widner, Per Odin, Oskar Hansson, Andreas Puschmann, Maria Swanberg
Summary: This study conducted a significant PD case-control cohort study in southern Sweden, revealing environmental and genetic risk factors for PD in this population, confirming associations between PD and environmental factors such as smoking, and discovering potentially population-specific genetic associations in the Swedish population.
JOURNAL OF PARKINSONS DISEASE
(2022)
Article
Neurosciences
Emil Ygland Rodstrom, Niklas Mattsson-Carlgren, Shorena Janelidze, Oskar Hansson, Andreas Puschmann
Summary: This study examined the utility of serum neurofilament light chain (S-NfL) as a biomarker in late-stage Parkinson's disease (PD). The results showed significant correlations between S-NfL levels and disease progression milestones. Higher S-NfL levels were associated with poorer daily living activities and cognitive function. Combining S-NfL with clinical factors improved prognostic accuracy.
JOURNAL OF PARKINSONS DISEASE
(2022)
Article
Neurosciences
Cloe Domenighetti, Pierre-Emmanuel Sugier, Ashwin Ashok Kumar Sreelatha, Claudia Schulte, Sandeep Grover, Oceane Mohamed, Berta Portugal, Patrick May, Dheeraj R. Bobbili, Milena Radivojkov-Blagojevic, Peter Lichtner, Andrew B. Singleton, Dena G. Hernandez, Connor Edsall, George D. Mellick, Alexander Zimprich, Walter Pirker, Ekaterina Rogaeva, Anthony E. Lang, Sulev Koks, Pille Taba, Suzanne Lesage, Alexis Brice, Jean-Christophe Corvol, Marie-Christine Chartier-Harlin, Eugenie Mutez, Kathrin Brockmann, Angela B. Deutschlaender, Georges M. Hadjigeorgiou, Efthimos Dardiotis, Leonidas Stefanis, Athina Maria Simitsi, Enza Maria Valente, Simona Petrucci, Stefano Duga, Letizia Straniero, Anna Zecchinelli, Gianni Pezzoli, Laura Brighina, Carlo Ferrarese, Grazia Annesi, Andrea Quattrone, Monica Gagliardi, Hirotaka Matsuo, Yusuke Kawamura, Nobutaka Hattori, Kenya Nishioka, Sun Ju Chung, Yun Joong Kim, Pierre Kolber, Bart Pc van de Warrenburg, Bastiaan R. Bloem, Jan Aasly, Mathias Toft, Lasse Pihlstrom, Leonor Correia Guedes, Joaquim J. Ferreira, Soraya Bardien, Jonathan Carr, Eduardo Tolosa, Mario Ezquerra, Pau Pastor, Monica Diez-Fairen, Karin Wirdefeldt, Nancy L. Pedersen, Caroline Ran, Andrea C. Belin, Andreas Puschmann, Clara Hellberg, Carl E. Clarke, Karen E. Morrison, Manuela Tan, Dimitri Krainc, Lena F. Burbulla, Matt J. Farrer, Rejko Krueger, Thomas Gasser, Manu Sharma, Alexis Elbaz
Summary: This study used a two-sample Mendelian randomization method to analyze the associations of smoking, alcohol drinking, and coffee drinking with Parkinson's disease (PD). The results showed that smoking was inversely associated with PD, while genetic liability was positively associated with PD. The associations of alcohol drinking and coffee drinking with PD were limited by insufficient statistical power.
JOURNAL OF PARKINSONS DISEASE
(2022)
Article
Clinical Neurology
Hui Liu, Mohammad Dehestani, Cornelis Blauwendraat, Mary B. Makarious, Hampton Leonard, Jonggeol J. Kim, Claudia Schulte, Alastair Noyce, Benjamin M. Jacobs, Isabelle Foote, Manu Sharma, Mike Nalls, Andrew Singleton, Thomas Gasser, Sara Bandres-Ciga
Summary: This study aims to understand why some individuals with high genetic risk do not develop Parkinson's disease (PD). Using large datasets of genetic data, the study found that a higher genetic resilience score was associated with a lower risk for PD. The study also identified potential genes and pathways related to resilience against PD.
ANNALS OF NEUROLOGY
(2022)
Article
Clinical Neurology
Hector Garcia-Moreno, Mercedes Prudencio, Gilbert Thomas-Black, Nita Solanky, Karen R. Jansen-West, Rana Hanna AL-Shaikh, Amanda Heslegrave, Henrik Zetterberg, Magda M. Santana, Luis Pereira de Almeida, Ana Vasconcelos-Ferreira, Cristina Januario, Jon Infante, Jennifer Faber, Thomas Klockgether, Kathrin Reetz, Mafalda Raposo, Ana F. Ferreira, Manuela Lima, Ludger Schols, Matthis Synofzik, Jeannette Hubener-Schmid, Andreas Puschmann, Sorina Gorcenco, Zbigniew K. Wszolek, Leonard Petrucelli, Paola Giunti
Summary: The study suggests that tau may serve as a biomarker for early stages of SCA3, while NfL can differentiate mutation carriers from controls and is associated with clinical variables. These findings have important implications for clinical trials in SCA3.
EUROPEAN JOURNAL OF NEUROLOGY
(2022)
Article
Clinical Neurology
Sandeep Grover, Ashwin Ashok Kumar Sreelatha, Lasse Pihlstrom, Cloe Domenighetti, Claudia Schulte, Pierre-Emmanuel Sugier, Milena Radivojkov-Blagojevic, Peter Lichtner, Oceane Mohamed, Berta Portugal, Zied Landoulsi, Patrick May, Dheeraj Bobbili, Connor Edsall, Felix Bartusch, Maximilian Hanussek, Jens Krueger, Dena G. Hernandez, Cornelis Blauwendraat, George D. Mellick, Alexander Zimprich, Walter Pirker, Manuela Tan, Ekaterina Rogaeva, Anthony Lang, Sulev Koks, Pille Taba, Suzanne Lesage, Alexis Brice, Jean-Christophe Corvol, Marie-Christine Chartier-Harlin, Eugenie Mutez, Kathrin Brockmann, Angela B. Deutschlaender, Georges M. Hadjigeorgiou, Efthimos Dardiotis, Leonidas Stefanis, Athina Maria Simitsi, Enza Maria Valente, Simona Petrucci, Letizia Straniero, Anna Zecchinelli, Gianni Pezzoli, Laura Brighina, Carlo Ferrarese, Grazia Annesi, Andrea Quattrone, Monica Gagliardi, Lena F. Burbulla, Hirotaka Matsuo, Yusuke Kawamura, Nobutaka Hattori, Kenya Nishioka, Sun Ju Chung, Yun Joong Kim, Lukas Pavelka, Bart P. C. van de Warrenburg, Bastiaan R. Bloem, Andrew B. Singleton, Jan Aasly, Mathias Toft, Leonor Correia Guedes, Joaquim J. Ferreira, Soraya Bardien, Jonathan Carr, Eduardo Tolosa, Mario Ezquerra, Pau Pastor, Monica Diez-Fairen, Karin Wirdefeldt, Nancy L. Pedersen, Caroline Ran, Andrea C. Belin, Andreas Puschmann, Clara Hellberg, Carl E. Clarke, Karen E. Morrison, Dimitri Krainc, Matt J. Farrer, Rejko Kruger, Alexis Elbaz, Thomas Gasser, Manu Sharma
Summary: The study found that genetic variants on chromosome 4, including SNCA and TMEM175 loci, are significantly associated with the age at onset of Parkinson disease (PD). Additionally, a novel BST1 locus was discovered. These findings offer new insights into delaying the onset of PD.
Article
Clinical Neurology
Cloe Domenighetti, Venceslas Douillard, Pierre-Emmanuel Sugier, Ashwin Ashok Kumar Sreelatha, Claudia Schulte, Sandeep Grover, Patrick May, Dheeraj R. Bobbili, Milena Radivojkov-Blagojevic, Peter Lichtner, Andrew B. Singleton, Dena G. Hernandez, Connor Edsall, Pierre-Antoine Gourraud, George D. Mellick, Alexander Zimprich, Walter Pirker, Ekaterina Rogaeva, Anthony E. Lang, Sulev Koks, Pille Taba, Suzanne Lesage, Alexis Brice, Jean-Christophe Corvol, Marie-Christine Chartier-Harlin, Eugenie Mutez, Kathrin Brockmann, Angela B. Deutschlander, Georges M. Hadjigeorgiou, Efthimos Dardiotis, Leonidas Stefanis, Athina Maria Simitsi, Enza Maria Valente, Simona Petrucci, Stefano Duga, Letizia Straniero, Anna Zecchinelli, Gianni Pezzoli, Laura Brighina, Carlo Ferrarese, Grazia Annesi, Andrea Quattrone, Monica Gagliardi, Hirotaka Matsuo, Akiyoshi Nakayama, Nobutaka Hattori, Kenya Nishioka, Sun Ju Chung, Yun Joong Kim, Pierre Kolber, Bart P. C. van de Warrenburg, Bastiaan R. Bloem, Jan Aasly, Mathias Toft, Lasse Pihlstrom, Leonor Correia Guedes, Joaquim J. Ferreira, Soraya Bardien, Jonathan Carr, Eduardo Tolosa, Mario Ezquerra, Pau Pastor, Monica Diez-Fairen, Karin Wirdefeldt, Nancy L. Pedersen, Caroline Ran, Andrea C. Belin, Andreas Puschmann, Emil Ygland Rodstrom, Carl E. Clarke, Karen E. Morrison, Manuela Tan, Dimitri KraincMD, Lena F. Burbulla, Matt J. Farrer, Rejko Kruger, Thomas Gasser, Manu Sharma, Nicolas Vince, Alexis Elbaz
Summary: This study conducted a large-scale independent replication of the interaction between HLA-DRB1 and smoking in Parkinson's disease. The valine at position 11 (V11) in HLA-DRB1 showed the strongest association with PD at the amino acid level. The results suggest an inverse association between genetically predicted smoking initiation and PD, particularly in individuals without the V11 variant. In silico predictions support this interaction pattern by showing the influence of V11 and smoking-induced modifications on binding affinity of alpha-synuclein.
MOVEMENT DISORDERS
(2022)
Review
Clinical Neurology
Isaac Bul Deng, Jordan Follett, Mengfei Bu, Matthew J. Farrer
Summary: Recent studies have shown that pathogenic variants in DNAJC12 can cause various diseases, including mild hyperphenylalaninemia, infantile dystonia, young-onset parkinsonism, developmental delay and cognitive deficits. DNAJC12 has been included in newborn screening, particularly in Spain, emphasizing the importance of genetic diagnosis and early intervention. However, many practitioners may not be aware of these advances, and molecular testing for DNAJC12 is yet to be conducted for many patients, especially adults. This review provides a summary of genotype-phenotype relationships and treatment approaches for patients with pathogenic variants in DNAJC12, as well as an overview of the protein's structure, known genetic variants, domains, binding partners, and its role in monoamine synthesis, disease etiology, and pathogenesis.
MOVEMENT DISORDERS
(2023)
Letter
Clinical Neurology
Eoin Mulroy, Andreea Ilinca, Cristina Gonzalez-Robles, Francesca Magrinelli, Andreas Puschmann, Kailash P. Bhatia
MOVEMENT DISORDERS CLINICAL PRACTICE
(2021)