Review
Clinical Neurology
Ajith Cherian, Naveen Kumar Paramasivan, K. P. Divya
Summary: Dopa-responsive dystonia (DRD) and DRD plus are diseases of the dopamine pathway with diverse presentations. While levodopa is the main therapy, some cases may have unsatisfactory response and require alternative treatments. Prompt management of hyperphenylalaninemia can lead to significant improvement in motor and cognitive functions.
ACTA NEUROLOGICA BELGICA
(2021)
Review
Clinical Neurology
Anne Weissbach, Martje G. Pauly, Rebecca Herzog, Lisa Hahn, Sara Halmans, Feline Hamami, Christina Bolte, Sarah Camargos, Beomseok Jeon, Manju A. Kurian, Thomas Opladen, Norbert Brueggemann, Hans-Juergen Huppertz, Inke R. Koenig, Christine Klein, Katja Lohmann
Summary: By analyzing a large number of DRD patients and asymptomatic GCH1 mutation carriers, specific phenotypic and biochemical characteristics were identified, which can aid in the rapid diagnosis and initiation of treatment.
MOVEMENT DISORDERS
(2022)
Review
Genetics & Heredity
Yun Chen, Kaiyu Liu, Zailan Yang, Yaozhou Wang, Hao Zhou
Summary: Dopa-responsive dystonia (DRD) is a rare but treatable dystonia characterized by diurnal fluctuation. Mutations in the GCH1 gene are the most common cause of DRD. This study describes a Chinese patient with severe truncal hypotonia and motor developmental regression, but without diurnal fluctuation and hyperphenylalaninemia. Treatment with levodopa/carbidopa resulted in complete remission of symptoms and normal neurological development. Homozygous GCH1 variant was identified in this patient, expanding the spectrum of DRD phenotypes. Autosomal recessive DRD should be considered in patients with severe truncal hypotonia, even in the absence of limb dystonia and hyperphenylalaninemia.
FRONTIERS IN GENETICS
(2022)
Review
Clinical Neurology
Balestrino Roberta, Barone Paolo, Filippi Massimo, Erro Roberto
Summary: Although the diagnosis of Parkinson's disease relies on clinical presentation, the use of imaging techniques, particularly DAT imaging, can aid in differential diagnosis. Structural lesions and certain medications may alter the results of DAT imaging, and unexpected findings such as SWEDD or SWIDD should be considered.
JOURNAL OF NEUROLOGY
(2022)
Letter
Clinical Neurology
Maria Joao Pinto, Francisco Sabenca, Carolina Soares, Ana Oliveira, Maria Jose Rosas
Summary: DYT-GCH1 is the most common form of Dopa-responsive dystonia. A three-generation Portuguese family with the same variant of DYT-GCH1 was analyzed, showing a wide array of phenotypic manifestations including dystonia, parkinsonism, and non-motor symptoms. Further studies are needed to explain the wide clinical expression of this entity.
PARKINSONISM & RELATED DISORDERS
(2021)
Article
Neurosciences
Lars Frings, Franziska Henninger, Martin Treppner, Goran Koeber, Martin Boeker, Philipp T. Meyer
Summary: DAT SPECT, commonly used in dementia diagnostics, has been found to provide valuable prognostic information. Patients with nigrostriatal degeneration (NSD) detected by DAT SPECT have a significantly higher mortality risk compared to those without NSD, with lower striatal DAT binding associated with increased mortality risk.
JOURNAL OF ALZHEIMERS DISEASE
(2021)
Editorial Material
Radiology, Nuclear Medicine & Medical Imaging
Jihye Yoo, In Kook Chun
Summary: F-18-FP-CIT PET/CT is a useful diagnostic tool that can differentiate between idiopathic Parkinson disease and atypical Parkinson syndrome by visualizing the striatum, where the nigrostriatal dopaminergic neurons' nerve endings are located. We present a case of an 83-year-old man with an unusual accumulation of F-18-FP-CIT in the infarct and peri-infarct brain area, who was referred for suspected cerebral infarction management due to sudden dysarthria and delirium.
CLINICAL NUCLEAR MEDICINE
(2023)
Article
Clinical Neurology
Anne Weissbach, Annika Steinmeier, Martje Pauly, Duha M. Al-Shorafat, Gerard Saranza, Anthony Lang, Norbert Brueggemann, Vera Tadic, Christine Klein, Alexander Muenchau, Tobias Baeumer, Matt J. N. Brown
Summary: This study examined sensorimotor inhibition in GCH1 mutation carriers and found that their short-latency afferent inhibition (SAI) and dual-site transcranial magnetic stimulation (ds-TMS) levels were not significantly different from the control group. However, SAI decreased over time in mutation carriers off dopamine replacement therapy (DRT). These results suggest changes in plasticity in the sensorimotor networks.
PARKINSONISM & RELATED DISORDERS
(2022)
Article
Radiology, Nuclear Medicine & Medical Imaging
Miguel A. Labrador-Espinosa, Michel J. Grothe, Daniel Macias-Garcia, Silvia Jesus, Astrid Adarmes-Gomez, Laura Munoz-Delgado, Paula Fernandez-Rodriguez, Juan Francisco Martin-Rodriguez, Ismael Huertas, David Garcia-Solis, Pablo Mir
Summary: The study found that reductions in DAT levels in the sensorimotor striatal subregion were most pronounced in PD patients who developed LID, providing a potentially sensitive tool for early detection and improved prognosis of this common complication in PD.
CLINICAL NUCLEAR MEDICINE
(2021)
Review
Health Care Sciences & Services
Gyrid Nygaard, Peter D. Szigetvari, Ann Kari Grindheim, Peter Ruoff, Aurora Martinez, Jan Haavik, Rune Kleppe, Marte Flydal
Summary: Dopa-responsive dystonia (DRD) is a rare movement disorder linked to defective dopamine synthesis, mainly associated with mutations in the GCH1 gene. However, some patients do not respond well to L-DOPA treatment, especially in severe cases of TH deficiency. This highlights the need for more effective and personalized treatment options.
JOURNAL OF PERSONALIZED MEDICINE
(2021)
Article
Clinical Neurology
Hiroo Terashi, Takeshi Taguchi, Yuki Ueta, Hiroshi Mitoma, Hitoshi Aizawa
Summary: The results of this study showed that I-123-FP-CIT-SPECT findings were significantly associated with motor severity and gait severity in drug-naive patients with Parkinson's disease (PD), particularly the mean specific binding ratios of the striatum and anterior putamen.
JOURNAL OF THE NEUROLOGICAL SCIENCES
(2021)
Article
Radiology, Nuclear Medicine & Medical Imaging
Seo Young Kang, Ji Young Yun, Yeon-Koo Kang, Byung Seok Moon, Hai-Jeon Yoon, Min Young Yoo, Bom Sahn Kim
Summary: Salivary gland uptake on 18F-FP-CIT PET can serve as a new biomarker for evaluating dopamine transporter availability in patients with Parkinson's disease, providing valuable diagnostic information.
KOREAN JOURNAL OF RADIOLOGY
(2023)
Article
Radiology, Nuclear Medicine & Medical Imaging
Matthew Neill, Julia M. Fisher, Christine Brand, Hong Lei, Scott J. Sherman, Ying-Hui Chou, Phillip H. Kuo
Summary: Evaluation of Parkinsonian Syndromes with DaT-SPECT and DaTQUANT software can aid in diagnosis, with the posterior putamen being a key variable for optimal diagnostic accuracy. Recommended thresholds for DaTQUANT in differentiating NSDD provide useful guidance for clinical practice.
Article
Clinical Neurology
Jun Ikezawa, Rui Shimazaki, Shinsuke Tobisawa, Keizo Sugaya, Kazushi Takahashi
Summary: SCA6 typically presents with cerebellar ataxia and rarely with extra-pyramidal symptoms. We report the first case of SCA6 with dopa-responsive dystonia. A 75-year-old woman presented with progressive cerebellar ataxia and dystonia in the left upper limb. Genetic testing confirmed SCA6 diagnosis. Oral levodopa improved her dystonia, allowing her to raise her left hand. Oral levodopa may be beneficial in the early treatment of SCA6-associated dystonia.
CLINICAL NEUROLOGY AND NEUROSURGERY
(2023)
Article
Clinical Neurology
Xin-yao Li, Ying-mai Yang, Li-bo Li, Meng-yu Zhang, Yang-yu Huang, Jie Wang, Lin Wang, Xin-hua Wan
Summary: This study summarized the clinical characteristics and long-term outcomes in patients with dopa-responsive dystonia who were treated with levodopa. Most patients showed satisfactory treatment outcomes after long-term levodopa, while a few patients with specific variants developed new motor symptoms, possibly due to dopamine insufficiency. Increasing levodopa dose slowly may be helpful for patients with motor symptoms after long-term treatment.
FRONTIERS IN NEUROLOGY
(2021)
Review
Oncology
Michael M. Wollring, Jan-Michael Werner, Garry Ceccon, Philipp Lohmann, Christian P. Filss, Gereon R. Fink, Karl-Josef Langen, Norbert Galldiks
Summary: PET imaging using radiolabeled amino acids combined with MRI is a valuable diagnostic tool in managing brain tumor patients. This review provides an overview of PET studies in glioma patients with IDH mutation, which typically do not show contrast enhancement on MRI. The review focuses on the role of amino acid PET in differential diagnosis, treatment planning, and response assessment in patients with IDH-mutant gliomas.
JOURNAL OF NEURO-ONCOLOGY
(2023)
Article
Clinical Neurology
Ann-Katrin Schild, Yasemin Goereci, Daniel Scharfenberg, Kim Klein, Joachim Luelling, Dix Meiberth, Finja Schweitzer, Sophie Stuermer, Philip Zeyen, Derya Sahin, Gereon R. Fink, Frank Jessen, Christiana Franke, Oezguer A. Onur, Josef Kessler, Clemens Warnke, Franziska Maier
Summary: The aim of this study was to assess the neuropsychological profile of patients with asymptomatic to mild/moderate acute COVID-19 disease. The study found that approximately 60% of participants reported cognitive deficits, particularly in the domains of learning/memory and executive functions. These deficits were associated with daytime sleepiness but not with depression, anxiety, sleep quality, general health status, or fatigue.
JOURNAL OF NEUROLOGY
(2023)
Article
Clinical Neurology
Marie Madlener, Christine Strippel, Franziska S. Thaler, Kathrin Doppler, Klaus P. Wandinger, Jan Lewerenz, Marius Ringelstein, Rosa Roessling, Til Menge, Jonathan Wickel, Christoph Kellingshaus, Sigrid Mues, Andrea Kraft, Andreas Linsa, Simone C. Tauber, Florian Then Berg, Stefan T. Gerner, Asterios Paliantonis, Alexander Finke, Josef Priller, Ingo Schirotzek, Marie Suesse, Kurt W. Suehs, Christian Urbanek, Makbule Senel, Claudia Sommer, Tania Kuempfel, Harald Pruess, Gereon R. Fink, Frank Leypoldt, Nico Melzer, Michael P. Malter
Summary: This study investigated 101 patients with suspected autoimmune neurological syndromes (AINS) associated with glutamic acid decarboxylase (GAD) antibodies. The results showed that immunotherapy had moderate effectiveness in these patients, and serum GAD antibody levels and intrathecal GAD antibody synthesis did not predict clinical characteristics or treatment outcomes.
JOURNAL OF THE NEUROLOGICAL SCIENCES
(2023)
Article
Clinical Neurology
Serge Pinto, Adelheid Nebel, Jorn Rau, Robert Espesser, Pauline Maillochon, Oliver Niebuhr, Paul Krack, Tatiana Witjas, Alain Ghio, Marie-Charlotte Cuartero, Lars Timmermann, Alfons Schnitzler, Helke Hesekamp, Niklaus Meier, Julia Muellner, Thomas D. Haelbig, Bettina Moeller, Steffen Paschen, Laura Paschen, Jens Volkmann, Michael T. Barbe, Gereon R. Fink, Johannes Becker, Paul Reker, Andrea A. Kuehn, Gerd-Helge Schneider, Valerie Fraix, Eric Seigneuret, Andrea Kistner, Olivier Rascol, Christine Brefel-Courbon, Fabienne Ory-Magne, Christian J. Hartmann, Lars Wojtecki, Anne Fradet, David Maltete, Philippe Damier, Severine Le Dily, Friederike Sixel-Doering, Petra Benecke, Daniel Weiss, Tobias Waechter, Marcus O. Pinsker, Jean Regis, Stephane Thobois, Gustavo Polo, Jean-Luc Houeto, Andreas Hartmann, Karina Knudsen, Marie Vidailhet, Michael Schuepbach, Gunther Deuschl
Summary: This study compared speech intelligibility assessment and other outcomes between subthalamic nucleus deep brain stimulation (STN-DBS) and best medical treatment (BMT) in early-stage Parkinson's disease patients over a 2-year period. The results showed no significant differences in speech intelligibility and patient-reported outcomes between the STN-DBS and BMT groups, but there was a trend towards worsening in both groups.
MOVEMENT DISORDERS
(2023)
Article
Oncology
Alexander Heinzel, Felix M. Mottaghy, Christian Filss, Gabriele Stoffels, Philipp Lohmann, Michel Friedrich, Nadim J. Shah, Svenja Caspers, Carolin Weiss Lucas, Maximilian I. Ruge, Norbert Galldiks, Gereon R. Fink, Karl-Josef Langen, Martin Kocher
Summary: This study investigated the impact of tumor development and multimodality therapy on health-related quality of life (HRQoL) in glioma patients. The results showed that right hemisphere gliomas were associated with less favorable outcomes in most functional domains except communication ability. This relationship was mainly observed in T2/FLAIR lesions involving structural and functional networks in the right hemisphere.
JOURNAL OF NEURO-ONCOLOGY
(2023)
Article
Immunology
Felix Kohle, Robin Ackfeld, Franziska Hommen, Ines Klein, Martin K. R. Svacina, Christian Schneider, Gereon R. R. Fink, Mohammed Barham, David Vilchez, Helmar C. C. Lehmann
Summary: This study evaluated the neuro-regenerative effects of the small molecule kinesin-5 inhibitor monastrol in a rodent model of acute autoimmune neuropathies. The results showed that treatment with monastrol improved the functional and histological recovery of neuropathies and promoted the regeneration of nerve terminals, possibly through accelerated motor neurite outgrowth.
JOURNAL OF NEUROINFLAMMATION
(2023)
Article
Radiology, Nuclear Medicine & Medical Imaging
Norbert Galldiks, Philipp Lohmann, Gereon R. Fink, Karl-Josef Langen
Summary: For decades, amino acid PET tracers have been used to optimize diagnostics in brain tumor patients, with clinical indications including differentiation of neoplasm from nonneoplastic etiologies, delineation of tumor extent for further diagnostic and treatment planning, differentiation of treatment-related changes, and assessment of response to anticancer therapy. This article focuses on the diagnostic value of amino acid PET for patients with glioblastoma or metastatic brain cancer.
JOURNAL OF NUCLEAR MEDICINE
(2023)
Article
Clinical Neurology
Aline Seger, Anja Ophey, Wiebke Heitzmann, Christopher E. J. Doppler, Marie-Sophie Lindner, Corinna Brune, Johanna Kickartz, Haidar S. Dafsari, Wolfgang H. Oertel, Gereon R. Fink, Stefanie T. Jost, Michael Sommerauer
Summary: This study aimed to optimize the identification of subjects with isolated rapid eye movement (REM) sleep behavior disorder (iRBD) from the general population. An accurate questionnaire-based algorithm was developed to improve recruitment efficiency in research. The algorithm displayed high diagnostic accuracy and could be a convenient tool in research and clinical settings.
MOVEMENT DISORDERS
(2023)
Article
Clinical Neurology
Christian Schneider, Meike K. K. Wassermann, Martin K. R. Svacina, Gilbert Wunderlich, Gereon R. R. Fink, Helmar C. C. Lehmann
Summary: In this study, the subclinical motor involvement in the upper extremity muscles of patients with lower limb-predominant nonsystemic vasculitic neuropathy (NSVN) was investigated using the MScanFit method. The results showed that the number of motor units and peak CMAP amplitudes were significantly reduced in patients with NSVN. However, there was no evidence of significant reinnervation, and the number of motor units did not correlate with clinical scores.
Letter
Oncology
Jan-Michael Werner, Michael M. Wollring, Caroline Tscherpel, Elena K. Rosen, Lisa Werr, Isabelle Stetter, Daniel Ruess, Maximilian Ruge, Anna Brunn, Abdulkader Al Shughri, Christoph Kabbasch, Gereon R. Fink, Karl-Josef Langen, Norbert Galldiks
Article
Clinical Neurology
Ann-Katrin Schild, Daniel Scharfenberg, Lukas Kirchner, Kim Klein, Anton Regorius, Yasemin Goereci, Dix Meiberth, Lena Sannemann, Joachim Luelling, Finja Schweitzer, Gereon R. Fink, Frank Jessen, Christiana Franke, Oezguer Onur, Stefanie Jost, Clemens Warnke, Franziska Maier
Summary: Cognitive impairment is a common symptom of post-COVID syndrome (PCS), but there is inconsistency between subjective cognitive complaints (SCC) and objective results. This study investigated this discrepancy and found a 40% difference between subjective reports and test results. Patients with SCC and objective impairment showed elevated fatigue and reduced quality of life. The study suggests that more patients will likely request neuropsychological assessments even after mild infections.
ZEITSCHRIFT FUR NEUROPSYCHOLOGIE
(2023)
Article
Geriatrics & Gerontology
Julian Dronse, Anna Ohndorf, Nils Richter, Gerard N. Bischof, Ronja Fassbender, Qumars Behfar, Hannes Gramespacher, Kim Dillen, Heidi I. L. Jacobs, Juraj Kukolja, Gereon R. Fink, Oezguer A. Onur
Summary: A study found that elevated cortisol levels are associated with memory decline in Alzheimer's disease patients, as well as hippocampal atrophy and memory impairment in healthy seniors.
FRONTIERS IN AGING NEUROSCIENCE
(2023)
Article
Clinical Neurology
Lothar Burghaus, Marie Madlener, Felix Kohle, Emanuel F. Bruno, Volker Limmroth, Gereon R. Fink, Michael P. Malter
Summary: Status epilepticus (SE) is a neurological emergency characterized by prolonged seizure activity. Prehospital management of SE is crucial, and this study investigated the impact of different treatment strategies, specifically focusing on levetiracetam. The results showed that the use of levetiracetam in the prehospital setting did not have a significant additional effect on SE parameters.
JOURNAL OF CLINICAL NEUROLOGY
(2023)
Article
Neuroimaging
Janusz L. Koob, Shivakumar Viswanathan, Maike Mustin, Imon Mallick, Sebastian Krick, Gereon R. Fink, Christian Grefkes, Anne K. Rehme
Summary: This study aims to investigate the factors in the early post-acute stage that may increase the risk of depression symptoms in stroke patients. The results show that more severe motor impairment promotes reward-dependent motor engagement, while depression and corticostriatal lesions may disrupt incentive motivational behavior, thereby increasing the risk of chronic depressive symptoms.
NEUROIMAGE-CLINICAL
(2023)
Article
Neurosciences
Hendrik Theis, Stephane Prange, Gerard N. Bischof, Merle C. Hoenig, Marc Tittgemeyer, Lars Timmermann, Gereon R. Fink, Alexander Drzezga, Carsten Eggers, Thilo van Eimeren
Summary: Impulsive-compulsive behavior (ICB) is frequently observed in early Parkinson's disease after starting dopamine replacement therapy, while apathy occurs even before treatment initiation. This study explored the relationship and underlying factors between these two behavioral conditions. The severity of ICB was positively correlated with the severity of apathy, and apathy and the Ser9Gly polymorphism of DRD3 were interactive risk factors for ICB severity.
NPJ PARKINSONS DISEASE
(2023)
Article
Clinical Neurology
Jun-Pyo Hong, Hanim Kwon, Euyhyun Park, Sun-Uk Lee, Chan-Nyoung Lee, Byung-Jo Kim, Ji-Soo Kim, Kun-Woo Park
Summary: In patients with mild-to-moderate PD, vestibular function assessed by video head-impulse tests appears relatively preserved and has minimal impact on the risk of falls. Risk of postural instability is associated with the severity of clinical symptoms in PD.
PARKINSONISM & RELATED DISORDERS
(2024)
Article
Clinical Neurology
Yaqin Xiang, XiuRong Huang, Qian Xu, Zhenhua Liu, Yase Chen, Qiying Sun, Junling Wang, Hong Jiang, Lu Shen, Xinxiang Yan, Beisha Tang, Jifeng Guo
Summary: Using the novel data-driven method DEBM, this study determined the sequence of several common biomarker changes in Parkinson's disease (PD). The left putamen was found to be the earliest biomarker to become abnormal, followed by the right putamen, CSF alpha-synuclein, right caudate, left caudate, and serum NfL. The estimated disease stages showed significant differences between PD and healthy controls, and achieved a high accuracy for distinguishing PD from HC.
PARKINSONISM & RELATED DISORDERS
(2024)
Article
Clinical Neurology
Yan Li, David J. McLernon, Carl E. Counsell, Angus D. Macleod
Summary: This study aimed to investigate the incidence and risk factors for institutionalisation in Parkinson's disease (PD) and atypical parkinsonism (AP). The study found that institutionalisation was more frequent in AP compared to PD and controls. Age, poorer cognition, and more-severe parkinsonian impairment were independent predictors of institutionalisation.
PARKINSONISM & RELATED DISORDERS
(2024)
