Article
Genetics & Heredity
T. S. Usenko, K. A. Senkevich, K. S. Basharova, A. I. Bezrukova, G. V. Baydakova, A. A. Tyurin, M. V. Beletskaya, D. G. Kulabukhova, M. N. Grunina, A. K. Emelyanov, I. V. Miliukhina, A. A. Timofeeva, E. Y. Zakharova, S. N. Pchelina
Summary: Recent data has shown that exonic variants of LRRK2 (p.G2019S, p.M1646T) may affect the catalytic activity of lysosomal enzyme glucocerebrosidase (GCase) possibly through the phosphorylation of Rab10 protein. The study aimed to evaluate the association of LRRK2 exonic variants previously linked to changes in Rab10Thr73 phosphorylation levels with PD risk in the Russian population, and analyze the impact of the p.G2019S mutation and selected LRRK2 variants on lysosomal hydrolase activities. The findings suggest that LRRK2 dysfunction may be involved in sphingolipid metabolism alterations in Parkinson's disease (PD).
Article
Neurosciences
Anna I. Wernick, Ronald L. Walton, Alexandra I. Soto-Beasley, Shunsuke Koga, Yingxue Ren, Michael G. Heckman, Lukasz M. Milanowski, Rebecca R. Valentino, Naveen Kondru, Ryan J. Uitti, William P. Cheshire, Zbigniew K. Wszolek, Dennis W. Dickson, Owen A. Ross
Summary: A recent study found no significant association between coding variants in ELOVL7 and the risk of MSA, based on sequencing data from MSA cases, PD cases, and healthy controls.
NEUROSCIENCE LETTERS
(2021)
Article
Clinical Neurology
Franziska Hopfner, Anja K. Tietz, Viktoria C. Ruf, Owen A. Ross, Shunsuke Koga, Dennis Dickson, Adriano Aguzzi, Johannes Attems, Thomas Beach, Allison Beller, William P. Cheshire, Vivianna van Deerlin, Paula Desplats, Guenther Deuschl, Charles Duyckaerts, David Ellinghaus, Valentin Evsyukov, Margaret Ellen Flanagan, Andre Franke, Matthew P. Frosch, Marla Gearing, Ellen Gelpi, Jay A. van Gerpen, Bernardino Ghetti, Jonathan D. Glass, Lea T. Grinberg, Glenda Halliday, Ingo Helbig, Matthias Hollerhage, Inge Huitinga, David John Irwin, Dirk C. Keene, Gabor G. Kovacs, Edward B. Lee, Johannes Levin, Maria J. Marti, Ian Mackenzie, Ian McKeith, Catriona Mclean, Brit Mollenhauer, Manuela Neumann, Kathy L. Newell, Alex Pantelyat, Manuela Pendziwiat, Annette Peters, Laura Molina Porcel, Alberto Rabano, Radoslav Matej, Alex Rajput, Ali Rajput, Regina Reimann, William K. Scott, William Seeley, Sashika Selvackadunco, Tanya Simuni, Christine Stadelmann, Per Svenningsson, Alan Thomas, Claudia Trenkwalder, Claire Troakes, John Q. Trojanowski, Ryan J. Uitti, Charles L. White, Zbigniew K. Wszolek, Tao Xie, Teresa Ximelis, Justo Yebenes, Ulrich Mueller, Gerard D. Schellenberg, Jochen Herms, Gregor Kuhlenbaumer, Gunter Hoeglinger
Summary: Multiple System Atrophy is a rare neurodegenerative disease characterized by alpha-synuclein aggregation in glial cytoplasmic inclusions. By studying autopsy-confirmed cases, it was found that rs16859966 on chromosome 3, rs7013955 on chromosome 8, and rs116607983 on chromosome 4 are the most strongly disease-associated markers.
MOVEMENT DISORDERS
(2022)
Article
Clinical Neurology
Monica Emili Garcia-Segura, Diego Perez-Rodriguez, Darren Chambers, Zane Jaunmuktane, Christos Proukakis
Summary: This study compared somatic alpha-synuclein (SNCA) copy number variants (CNVs) in subtypes of multiple system atrophy (MSA) and correlated them with inclusions. The findings suggest a potential role of SNCA CNVs in the pathogenesis of MSA at both regional and single-cell levels.
MOVEMENT DISORDERS
(2023)
Article
Neurosciences
Lingyu Zhang, Yanbing Hou, Bei Cao, Qian-Qian Wei, Ruwei Ou, Kuncheng Liu, Junyu Lin, Tianmi Yang, Yi Xiao, Bi Zhao, HuiFang Shang
Summary: The study found that multiple vascular risk factors have a cumulative impact on cognitive impairment (CI) in patients with multiple system atrophy (MSA). Therefore, comprehensive management of vascular risk factors is crucial in patients with MSA.
FRONTIERS IN NEUROSCIENCE
(2021)
Article
Biology
Ashraf Kakoo, Mustafa Al-Attar, Taban Rasheed
Summary: This study utilized whole-exome sequencing to investigate new gene variants associated with drug resistance in MM patients. 17 variants were identified in relapsed and refractory patients, while 4 variants were found in patients who responded to bortezomib regimens.
SAUDI JOURNAL OF BIOLOGICAL SCIENCES
(2022)
Review
Immunology
Marta Lenska-Mieciek, Natalia Madetko-Alster, Piotr Alster, Leszek Krolicki, Urszula Fiszer, Dariusz Koziorowski
Summary: Misfolding and aggregation of proteins are major pathological features of several neurodegenerative diseases. These diseases include neurodegenerative diseases with atypical Parkinsonism and the accumulation of insoluble fibrillary alpha-synuclein or hyperphosphorylated tau protein fragments. In the absence of available therapies to slow or halt disease progression, targeting the inflammatory process shows promise. Inflammatory biomarkers may also aid in the differential diagnosis of Parkinsonian syndromes.
FRONTIERS IN IMMUNOLOGY
(2023)
Article
Neurosciences
Yalan Chen, Hui Wang, Hongyan Huang, Yangmei Chen, Yanming Xu
Summary: This study examined the prevalence of freezing of gait (FOG) and its relationship to clinical features in a large cohort of Chinese MSA patients. The results showed that FOG is common in MSA patients and correlates with severe motor symptoms, anxiety, depression, and reduced daily living abilities. The total UMSARS score may be an independent risk factor for FOG.
FRONTIERS IN NEUROSCIENCE
(2023)
Article
Multidisciplinary Sciences
Sarah Grosche, Ingo Marenholz, Jorge Esparza-Gordillo, Aleix Arnau-Soler, Erola Pairo-Castineira, Franz Rueschendorf, Tarunveer S. Ahluwalia, Catarina Almqvist, Andreas Arnold, Hansjoerg Baurecht, Hans Bisgaard, Klaus Bonnelykke, Sara J. Brown, Mariona Bustamante, John A. Curtin, Adnan Custovic, Shyamali C. Dharmage, Ana Esplugues, Mario Falchi, Dietmar Fernandez-Orth, Manuel A. R. Ferreira, Andre Franke, Sascha Gerdes, Christian Gieger, Hakon Hakonarson, Patrick G. Holt, Georg Homuth, Norbert Hubner, Pirro G. Hysi, Marjo-Riitta Jarvelin, Robert Karlsson, Gerard H. Koppelman, Susanne Lau, Manuel Lutz, Patrik K. E. Magnusson, Guy B. Marks, Martina Mueller-Nurasyid, Markus M. Noethen, Lavinia Paternoster, Craig E. Pennell, Annette Peters, Konrad Rawlik, Colin F. Robertson, Elke Rodriguez, Sylvain Sebert, Angela Simpson, Patrick M. A. Sleiman, Marie Standl, Dora Stoelzl, Konstantin Strauch, Agnieszka Szwajda, Albert Tenesa, Philip J. Thompson, Vilhelmina Ullemar, Alessia Visconti, Judith M. Vonk, Carol A. Wang, Stephan Weidinger, Matthias Wielscher, Catherine L. Worth, Chen-Jian Xu, Young-Ae Lee
Summary: This study identified rare and common variants associated with eczema susceptibility through a meta-analysis, revealing promising therapeutic targets and genetic characteristics of the disease. Rare variants were linked to up-regulation of skin genes while common variants were related to immune cell function.
NATURE COMMUNICATIONS
(2021)
Article
Clinical Neurology
Ming-Che Kuo, Ying-Che Lu, Chun-Hwei Tai, Bing-Wen Soong, Fu-Chang Hu, Meng-Ling Chen, Chin-Hsien Lin, Ruey-Meei Wu
Summary: This study investigated the integrated effect of genetic and environmental factors on the etiology of multiple system atrophy (MSA). The results showed that certain genetic variations and environmental factors interact to modulate the risk and subtype disposition of MSA. Further investigation is needed to understand the underlying mechanisms of these gene-environment interactions in MSA etiopathogenesis.
EUROPEAN JOURNAL OF NEUROLOGY
(2022)
Article
Clinical Neurology
Viorica Chelban, Elham Nikram, Alexandra Perez-Soriano, Carlo Wilke, Alexandra Foubert-Samier, Nirosen Vijiaratnam, Tong Guo, Edwin Jabbari, Simisola Olufodun, Mariel Gonzalez, Konstantin Senkevich, Brice Laurens, Patrice Peran, Olivier Rascol, Anne Pavy Le Traon, Emily G. Todd, Alyssa A. Costantini, Sondos Alikhwan, Ambreen Tariq, Bai Lin Ng, Esteban Munoz, Celia Painous, Yaroslau Compta, Carme Junque, Barbara Segura, Kristina Zhelcheska, Henny Wellington, Ludger Schoels, Zane Jaunmuktane, Christopher Kobylecki, Alistair Church, Michele T. M. Hu, James B. Rowe, P. Nigel Leigh, Luke Massey, David J. Burn, Nicola Pavese, Tom Foltynie, Sofya Pchelina, Nicholas Wood, Amanda J. Heslegrave, Henrik Zetterberg, Martina Bocchetta, Jonathan D. Rohrer, Maria J. Marti, Matthis Synofzik, Huw R. Morris, Wassilios G. Meissner, Henry Houlden
Summary: In this study, it was found that plasma neurofilament light chain levels correlate with clinical disease severity, progression, and prognosis in multiple system atrophy, providing valuable information for patient stratification and treatment response monitoring in future trials. The use of neurofilament light chain as a biomarker in multiple system atrophy holds promise for improving trial outcomes and streamlining participant recruitment. Further research is warranted to fully understand the potential of neurofilament light chain in multiple system atrophy management.
Article
Psychiatry
Pablo Rafael Silveira Oliveira, Lorena Oliveira de Matos, Nathalia Matta Araujo, Hanaisa P. Sant Anna, Daniel Almeida da Silva e Silva, Andresa K. Andrade Damasceno, Luana Martins de Carvalho, Bernardo L. Horta, Maria Fernanda Lima-Costa, Mauricio Lima Barreto, Corinde E. Wiers, Nora D. Volkow, Ana Lucia Brunialti Godard
Summary: The study identified four LRRK2 variants significantly associated with AD, with two of them replicated in different populations. The findings suggest that genetic variants in the LRRK2 locus may serve as risk factors for alcohol dependence in humans.
FRONTIERS IN PSYCHIATRY
(2021)
Article
Genetics & Heredity
Qiyuan Li, Yuanyuan Zeng, Janet Wang, Hongkun Fang, Jintao Guo, Liying Yu, Taoling Zhong, Chaoqun Xu, Matthew Freedman, Thomas LaFramboise
Summary: In this study, allelic imbalance in tumors was evaluated in different cancer types, identifying a set of SNP loci with tumor allele specificity. These SNPs showed consistently different frequencies in cancer population compared to healthy population, enriched for predicted protein-damaging variants. Genes harboring these SNPs were found to be enriched for cancer-related biological processes and more likely to be essential in cancer cells.
BMC MEDICAL GENOMICS
(2021)
Review
Medicine, Research & Experimental
Fan Shuen Tseng, Joel Qi Xuan Foo, Aaron Shengting Mai, Eng-King Tan
Summary: Multiple system atrophy (MSA) is a neurodegenerative disease characterized by dysautonomia, parkinsonism, cerebellar dysfunction, and corticospinal degeneration. The underlying mechanism involves aberrant alpha-synuclein deposition, mitochondrial dysfunction, oxidative stress, and neuroinflammation. There is also a possible genetic component that contributes to the risk and progression of MSA. Understanding the genetic factors and pathways involved in MSA can provide insights into potential therapeutic targets.
JOURNAL OF TRANSLATIONAL MEDICINE
(2023)
Article
Neurosciences
Natalia Del Campo, Owen Phillips, Francoise Ory-Magne, Christine Brefel-Courbon, Monique Galitzky, Claire Thalamas, Katherine L. Narr, Shantanu Joshi, Manpreet K. Singh, Patrice Peran, Anne Pavy-LeTraon, Olivier Rascol
Summary: Multiple system atrophy (MSA) is a rare neurodegenerative disorder characterized by widespread accumulation of alpha-synuclein, primarily in oligodendrocytes. Whole brain deep and superficial white matter diffusivity abnormalities were observed in MSA patients but not in Parkinson's disease (PD) patients. These abnormalities were associated with motor and cognitive functions in MSA patients.
HUMAN BRAIN MAPPING
(2021)
Article
Clinical Neurology
Christina M. Moloney, Sydney A. Labuzan, Julia E. Crook, Habeeba Siddiqui, Monica Castanedes-Casey, Christian Lachner, Ronald C. Petersen, Ranjan Duara, Neill R. Graff-Radford, Dennis W. Dickson, Michelle M. Mielke, Melissa E. Murray
Summary: This study aims to characterize the recognition of phosphorylated tau sites in early neurofibrillary tangle maturity levels, which may explain why these fluid biomarkers can be observed before symptom onset.
ALZHEIMERS & DEMENTIA
(2023)
Article
Chemistry, Organic
Heather M. Stein, Surendra R. Gundam, Aditya Bansal, Nicholas R. Nelson, Geoffry L. Curran, Timothy R. DeGrado, Mark A. Frye, John D. Port, Val J. Lowe, Melissa E. Murray, Mukesh K. Pandey
Summary: This study synthesized two PET probes and evaluated their permeability through the blood-brain barrier and affinity towards GSK-3 alpha/beta. The results showed that [F-18]F-CNPIFE had higher brain uptake compared to [F-18]F-CNBI, making it a promising PET probe for imaging GSK-3 alpha/beta.
EUROPEAN JOURNAL OF ORGANIC CHEMISTRY
(2023)
Article
Clinical Neurology
Ben Gaastra, Sheila Alexander, Mark K. Bakker, Hemant Bhagat, Philippe Bijlenga, Spiros L. Blackburn, Malie K. Collins, Sylvain Dore, Christoph J. Griessenauer, Philipp Hendrix, Eun Pyo Hong, Isabel C. Hostettler, Henry Houlden, Koji IIhara, Jin Pyeong Jeon, Bong Jun Kim, Jiang Li, Sandrine Morel, Paul Nyquist, Dianxu Ren, Ynte M. Ruigrok, David Werring, Will Tapper, Ian Galea, Diederik Bulters
Summary: This study identified 157 genetic variants associated with outcomes after aneurysmal subarachnoid haemorrhage (aSAH) through a genome-wide association study, with one variant in the SPNS2 gene achieving genome-wide significance. Validation of these findings will provide significant insights into the pathophysiology of outcomes after aSAH and may have implications for treatment.
TRANSLATIONAL STROKE RESEARCH
(2023)
Article
Clinical Neurology
Zhongbo Chen, Arianna Tucci, Valentina Cipriani, Emil K. Gustavsson, Kristina Ibanez, Regina H. Reynolds, David Zhang, Letizia Vestito, Alejandro Cisterna Garcia, Siddharth Sethi, Jonathan W. Brenton, Sonia Garcia-Ruiz, Aine Fairbrother-Browne, Ana-Luisa Gil-Martinez, Nick Wood, John A. Hardy, Damian Smedley, Henry Houlden, Juan Botia, Mina Ryten
Summary: Using a systems biology approach, Chen et al. found that genes associated with adult- and child-onset ataxia share common characteristics, including a high density of short tandem repeats. Removing the age-of-onset partition and screening for repeat expansions could improve the diagnosis of hereditary ataxia.
Article
Clinical Neurology
Wallace J. Brownlee, Carmen Tur, Andreea Manole, Arman Eshaghi, Ferran Prados, Katherine A. Miszkiel, Claudia A. M. Gandini Wheeler-Kingshott, Henry Houlden, Olga Ciccarelli
Summary: This study found that HLA-DRB1*1501 is associated with the severity of multiple sclerosis (MS), as indicated by long-term disability worsening and greater extent of inflammatory disease activity and tissue loss. HLA-DRB1*1501 may provide useful information for prognosis and treatment decisions in early relapse-onset MS.
MULTIPLE SCLEROSIS JOURNAL
(2023)
Article
Genetics & Heredity
Constance Maurer, Olga Boleti, Paria Najarzadeh Torbati, Farzaneh Norouzi, Anna Nicole Rebekah Fowler, Shima Minaee, Khalid Hama Salih, Mehdi Taherpour, Hassan Birjandi, Behzad Alizadeh, Aso Faeq Salih, Moniba Bijari, Henry Houlden, Alan Michael Pittman, Reza Maroofian, Yahya H. Almashham, Ehsan Ghayoor Karimiani, Juan Pablo Kaski, Eissa Ali Faqeih, Farveh Vakilian, Yalda Jamshidi
Summary: Inherited cardiomyopathies are a prevalent cause of heart failure and sudden cardiac death. Whole exome sequencing and autozygosity mapping in Middle Eastern families with hypertrophic and dilated cardiomyopathy identified variants in TNNI3K, DSP, RBCK1, NRAP, and KLHL24 genes associated with different phenotypes. This expands the mutational spectrum and suggests novel modes of inheritance for recessive cardiomyopathies.
Article
Education, Special
Carmela Scuderi, Sandro Santa Paola, Mariangela Lo Giudice, Francesco Domenico Di Blasi, Stefania Giusto, Giuseppa Di Vita, Rosa Pettinato, Girolamo Aurelio Vitello, Corrado Romano, Serafino Buono, Vincenzo Salpietro, Henry Houlden, Eugenia Borgione
Summary: This study aimed to identify mitochondrial dysfunction due to mtDNA variants in 19 selected subjects with ASD and clinical features of mitochondrial disease. The results showed that 79% of the patients had myogenic or neurogenic changes in the histological examination, 58% had lipid accumulation, mitochondrial proliferation, and COX-deficient fibers. Biochemical investigations revealed impairments involving one or more of the respiratory chain complexes in three patients. Genetic studies found multiple mtDNA deletions in one patient with normal histology and biochemistry, and different mtDNA point mutations in four patients.
RESEARCH IN AUTISM SPECTRUM DISORDERS
(2023)
Article
Clinical Neurology
Matteo Zanovello, Kristina Ibanez, Anna-Leigh Brown, Prasanth Sivakumar, Alessandro Bombaci, Liana Santos, Joke J. F. A. van Vugt, Giuseppe Narzisi, Ramita Karra, Sonja W. Scholz, Jinhui Ding, J. Raphael Gibbs, Adriano Chio, Clifton Dalgard, Ben Weisburd, Michael G. Hanna, Linda Greensmith, Hemali Phatnani, Jan H. Veldink, Bryan J. Traynor, James Polke, Henry Houlden, Pietro Fratta, Arianna Tucci
Summary: The researchers established a method to detect AR CAG expansions and found a higher mutation frequency than previously reported, possibly due to underdiagnosis or pleomorphic manifestations. This mutation causes spinal and bulbar muscular atrophy, a male-specific progressive neuromuscular disorder.
Article
Clinical Neurology
Hajar Mikaeili, Abdella M. Habib, Charlix Wai-Lok Yeung, Sonia Santana-Varela, Ana P. Luiz, Kseniia Panteleeva, Sana Zuberi, Alkyoni Athanasiou-Fragkouli, Henry Houlden, John N. Wood, Andrei L. Okorokov, James J. Cox
Summary: Mikaeili et al. have identified the molecular basis of pain insensitivity associated with FAAH-OUT. This discovery provides insights into the regulation of pain and offers potential for new gene therapy approaches. Chronic pain affects millions of people worldwide and requires urgent treatment options.
Article
Clinical Neurology
Duncan Street, Edwin Jabbari, Alyssa Costantini, P. Simon Jones, Negin Holland, Timothy Rittman, Marte T. Jensen, Viorica Chelban, Yen Y. Goh, Tong Guo, Amanda J. Heslegrave, Federico Roncaroli, Johannes C. Klein, Olaf Ansorge, Kieren S. J. Allinson, Zane Jaunmuktane, Tamas Revesz, Thomas T. Warner, Andrew J. Lees, Henrik Zetterberg, Lucy L. Russell, Martina Bocchetta, Jonathan D. Rohrer, David J. Burn, Nicola Pavese, Alexander Gerhard, Christopher Kobylecki, P. Nigel Leigh, Alistair Church, Michele T. M. Hu, Henry Houlden, Huw Morris, James B. Rowe
Summary: The study compares candidate clinical trial end points in progressive supranuclear palsy, multiple system atrophy, corticobasal syndrome and related disorders. Neuroimaging metrics generally require smaller sample sizes than cognitive and functional measures, but the optimal outcome measures differ by disease type.
Article
Clinical Neurology
Afshin Saffari, Tracy Lau, Homa Tajsharghi, Ehsan Ghayoor Karimiani, Ariana Kariminejad, Stephanie Efthymiou, Giovanni Zifarelli, Tipu Sultan, Mehran Beiraghi Toosi, Sahar Sedighzadeh, Victoria Mok Siu, Juan Dario Ortigoza-Escobar, Aisha M. AlShamsi, Shahnaz Ibrahim, Nouriya Abbas Al-Sannaa, Walla Al-Hertani, Whalen Sandra, Mark Tarnopolsky, Shahryar Alavi, Chumei Li, Debra-Lynn Day-Salvatore, Maria Jesus Martinez-Gonzalez, Kristin M. Levandoski, Emma Bedoukian, Suneeta Madan-Khetarpal, Michaela J. Idleburg, Minal Juliet Menezes, Aishwarya Siddharth, Konrad Platzer, Henry Oppermann, Martin Smitka, Felicity Collins, Monkol Lek, Mohmmad Shahrooei, Maryam Ghavideldarestani, Isabella Herman, John Rendu, Julien Faure, Janice Baker, Vikas Bhambhani, Laurel Calderwood, Javad Akhondian, Shima Imannezhad, Hanieh Sadat Mirzadeh, Narges Hashemi, Mohammad Doosti, Mojtaba Safi, Najmeh Ahangari, Paria Najarzadeh Torbati, Soheila Abedini, Vincenzo Salpietro, Elif Yilmaz Gulec, Safieh Eshaghian, Mohammadreza Ghazavi, Michael T. Pascher, Marina Vogel, Angela Abicht, Sebastien Moutton, Ange-Line Bruel, Claudine Rieubland, Sabina Gallati, Tim M. Strom, Hanns Lochmueller, Mohammad Hasan Mohammadi, Javeria Raza Alvi, Elaine H. Zackai, Beth A. Keena, Cara M. Skraban, Seth Berger, Erin H. Andrew, Elham Rahimian, Michelle M. Morrow, Ingrid M. Wentzensen, Francisca Millan, Lindsay B. Henderson, Hormos Salimi Dafsari, Heinz Jungbluth, Natalia Gomez-Ospina, Anne McRae, Merlene Peter, Danai Veltra, Nikolaos M. Marinakis, Christalena Sofocleous, Farah Ashrafzadeh, Davut Pehlivan, Johannes R. Lemke, Judith Melki, Audrey Benezit, Peter Bauer, Denisa Weis, James R. Lupski, Jan Senderek, John Christodoulou, Wendy K. Chung, Rose Goodchild, Amaka C. Offiah, Andres Moreno-De-Luca, Mohnish Suri, Darius Ebrahimi-Fakhari, Henry Houlden, Reza Maroofian
Summary: This study systematically assesses the characteristics of 56 individuals with autosomal-recessive TOR1A-related disease, including their clinical, radiological, and molecular features. The study defines the phenotypic spectrum, identifies core clinical symptoms, and highlights predictors for disease severity and survival.
Article
Developmental Biology
Wahid Ullah, Muhammad Ilyas, Muhammad Tariq, Maria Imdad, Ikram Ullah, Stephanie Efthymiou, Muhammad Faheem, Muhammad Abbas, Muhammad Aamir, Muhammad Nouman, Henry Houlden, S. Y. N. A. P. S. Study Group SYNAPS Study Group
Summary: This study identified the genetic basis of WARBM syndrome in a Pashtun family from Pakistan. MRI analysis showed cerebral atrophy and exome sequencing identified a novel variant in the RAB3GAP1 gene. This rare variant expands the mutation spectrum of Micro syndrome.
INTERNATIONAL JOURNAL OF DEVELOPMENTAL NEUROSCIENCE
(2023)
Review
Clinical Neurology
Manuela Aramburu Berckemeyer, Paola Suarez-Meade, Maria Fernanda Villamonte Carcelen, Mariel Dyer Ricci, William P. Cheshire, Daniel M. Trifiletti, Erik H. Middlebrooks, Alfredo Quinones-Hinojosa, Sanjeet S. Grewal
Summary: Glossopharyngeal neuralgia (GPN) is a neurological condition characterized by paroxysmal, stabbing-like pain. Pharmacological treatment is the first line, but some patients require surgical intervention. A systematic review showed that microvascular decompression (MVD) alone achieved immediate pain relief in 85% of patients and long-term relief in 65-90% of patients. Rhizotomy alone provided instant relief in 85-100% of patients, but long-term relief was lower. Stereotactic radiosurgery (SRS) had promising results in pain reduction, but further studies are needed.
NEUROSURGICAL REVIEW
(2023)
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)
Article
Clinical Neurology
Hiroaki Sekiya, Shunsuke Koga, Aya Murakami, Michael Deture, Owen A. Ross, Ryan J. Uitti, William P. Cheshire, Zbigniew K. Wszolek, Dennis W. Dickson
Summary: Comorbid pathologies are uncommon in multiple system atrophy (MSA), even in advanced age, indicating its uniqueness among neurodegenerative disorders. These comorbid pathologies have minimal clinical impact on MSA.
MOVEMENT DISORDERS
(2023)