Article
Neurosciences
Sun-Uk Lee, Ji-Soo Kim, Dallah Yoo, Aryun Kim, Hyo-Jung Kim, Jeong-Yoon Choi, Ji-Yun Park, Seong-Hae Jeong, Jong-Min Kim, Kun-Woo Park
Summary: Differentiation between spinocerebellar ataxia type 17 (SCA17) and Huntington's disease (HD) is challenging, but ocular motor findings can help distinguish between the two. Central positional nystagmus (CPN) is more frequently observed in SCA17, while saccadic slowing is more common in HD. Ocular motor abnormalities can be used as a diagnostic and surrogate marker for clinical decline in SCA17.
Article
Clinical Neurology
Jose Gazulla, Elena Bellosta-Diago, Silvia Izquierdo-Alvarez, Jose Berciano
Summary: This study identifies three heterozygous missense variants in the ITPR1 gene that are associated with SCA15 in Caucasian kindreds. These variants segregate with the disease and are predicted to be pathogenic.
EUROPEAN JOURNAL OF NEUROLOGY
(2023)
Article
Neurosciences
Li An, Sheng Yao, Jianguo Liu, Xiaokun Qi, Feng Duan, Chenjing Sun
Summary: This paper reports a dilemma in the differentiation of SCA 17 from HD in one patient, who had different numbers of CAG repeats in the HTT and TBP genes.
INTERNATIONAL JOURNAL OF NEUROSCIENCE
(2023)
Article
Clinical Neurology
Marina P. Hommersom, Teije H. van Prooije, Maartje Pennings, Meyke Schouten, Hans van Bokhoven, Erik-Jan Kamsteeg, Bart P. C. van de Warrenburg
Summary: Variants in the CACNA1A gene can lead to various phenotypes beyond the classic ataxia-related disorders, presenting challenges in neurogenetic diagnostics. Accessible functional read-outs are crucial for cases with non-classic phenotypes.
JOURNAL OF NEUROLOGY
(2022)
Article
Clinical Neurology
Vanessa Brzoskowski dos Santos, Annelise Ayres, Maiara Lais Mallmann Kieling, Elaine Cristina Miglorini, Laura Bannach Jardim, Artur Francisco Schumacher-Schuh, Carlos Roberto de Mello Rieder, Raphael Machado de Castilhos, Kristie Spencer, Rui Rothe-Neves, Maira Rozenfeld Olchik
Summary: This study compared the articulatory patterns between patients with cerebellar disorders and basal ganglia disorders. The results showed that patients with Parkinson's disease exhibited significantly lower levels in the number of syllables, phonation time, diadochokinesis, and monolog tasks. In contrast, patients with spinocerebellar ataxia type 3 only had significantly lower number of syllables in the monolog. These findings suggest a relationship between speech and general motor functioning.
FRONTIERS IN NEUROLOGY
(2023)
Review
Cell Biology
Karolina Switonska-Kurkowska, Bart Krist, Joanna Delimata, Maciej Figiel
Summary: PolyQ diseases are neurodegenerative disorders caused by CAG repeat expansion mutation in affected genes, leading to toxic proteins. Longer CAG expansions and glutamine tracts result in earlier disease presentation, while extreme expansions can cause juvenile-onset syndromes. Shorter CAGs and PolyQs in proteins may enhance human cognition, but also contribute to neurodevelopmental phenotypes in PolyQ diseases. Bioinformatic analysis revealed downregulated genes and proteins in HD mouse models, highlighting developmental pathways and genes involved in neural growth and plasticity in PolyQ diseases.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2021)
Article
Medicine, General & Internal
Federica Cavone, Susanna Cappelli, Alice Bonuccelli, Sofia D'Elios, Giorgio Costagliola, Diego Peroni, Alessandro Orsini, Rita Consolini
Summary: Ataxia telangiectasia (AT) is a rare disease characterized by neurodegenerative defects, immunodeficiency, and teleangiectasias. Ataxia is the main symptom of the disease.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Clinical Neurology
Thiago Cardoso Vale, Orlando Graziani Povoas Barsottini, Jose Luiz Pedroso
Summary: A 30-year-old man presented with a two-year history of involuntary movements in the face and mouth, showing isolated orofacial dystonia on neurological examination. He was born from non-consanguineous parents, had normal development, and did not have any other neurological abnormalities.
PARKINSONISM & RELATED DISORDERS
(2021)
Review
Clinical Neurology
Santiago Perez-Lloret, Bart van de Warrenburg, Malco Rossi, Carmen Rodriguez-Blazquez, Theresa Zesiewicz, Jonas A. M. Saute, Alexandra Durr, Masatoyo Nishizawa, Pablo Martinez-Martin, Glenn T. Stebbins, Anette Schrag, Matej Skorvanek
Summary: This study evaluated the clinimetric properties of various ataxia rating scales and functional tests, identifying recommended scales and tests for patients with major hereditary ataxias and other cerebellar disorders. However, the main limitations of these instruments include limited assessment of patients on the severe end of the spectrum and children. Further research is needed in these populations.
MOVEMENT DISORDERS
(2021)
Article
Clinical Neurology
Roderick P. P. W. M. Maas, Steven Teerenstra, Manuela Lima, Paula Pires, Luis Pereira de Almeida, Judith van Gaalen, Dagmar Timmann, Jon Infante, Chiadi Onyike, Khalaf Bushara, Heike Jacobi, Kathrin Reetz, Magda M. Santana, Joana Afonso Ribeiro, Jeannette Huebener-Schmid, Jeroen J. de Vries, Matthis Synofzik, Ludger Schoels, Hector Garcia-Moreno, Paola Giunti, Jennifer Faber, Thomas Klockgether, Bart P. C. van de Warrenburg
Summary: This study investigated the temporal dynamics of SARA item scores in SCA3 patients and found differences in the progression patterns of axial and appendicular ataxia. Male patients showed a faster progression, and the omission of certain test items could lower sample size requirements for therapeutic trials.
MOVEMENT DISORDERS
(2022)
Review
Clinical Neurology
Malco Rossi, Moath Hamed, Jon Rodriguez-Antiguedad, Mario Cornejo-Olivas, Marianthi Breza, Katja Lohmann, Christine Klein, Rajasumi Rajalingam, Connie Marras, Bart P. van de Warrenburg
Summary: This article systematically reviewed the genotype-phenotype relationships and reevaluated the pathological range of repeat expansions in ATX-TBP. The study proposed new cutoff values for reduced penetrance (41-45 expanded repeats) and full penetrance (46-66 expanded repeats), which have important diagnostic and counseling implications and may guide future clinical trial protocols.
MOVEMENT DISORDERS
(2023)
Article
Genetics & Heredity
Saadia Maryam Saadi, Elisa Cali, Lubaba Bintee Khalid, Hammad Yousaf, Ghazala Zafar, Haq Nawaz Khan, Muhammad Sher, Barbara Vona, Uzma Abdullah, Naveed Altaf Malik, Joakim Klar, Stephanie Efthymiou, Niklas Dahl, Henry Houlden, Mathias Toft, Shahid Mahmood Baig, Ambrin Fatima, Zafar Iqbal
Summary: The objective of this study is to identify the genetic causes of rare spinocerebellar disorders in the Pakistani population. Whole exome sequencing was used to investigate nine consanguineous families, resulting in the identification of six novel pathogenic variants and three already reported pathogenic variants. This study expands the mutation spectrum of rare spinocerebellar disorders and highlights the usefulness of next-generation sequencing in combination with clinical investigation for better diagnosis.
Review
Clinical Neurology
Marija Cvetanovic, Michelle Gray
Summary: Neurodegenerative diseases are characterized by specific neuronal cell type degeneration in certain brain regions, leading to varied clinical presentations. Dysfunction in non-neuronal glial cell types also contributes to the pathogenesis of these diseases. Understanding the role and regulation of glial cells in disease may lead to the development of new neurotherapeutic approaches.
Review
Clinical Neurology
Marija Cvetanovic, Michelle Gray
Summary: Neurodegenerative diseases are characterized by the degeneration of specific neuronal cell types in the brain, leading to various clinical presentations. In diseases like Huntington's disease (HD) and spinocerebellar ataxias (SCA), the degeneration of specific neurons, such as striatal medium spiny neurons (MSNs) in HD or cerebellar Purkinje cells in SCA, contributes to the observed abnormalities in motor function. While research has primarily focused on understanding dysregulated mechanisms in these neuronal cell types, recent studies suggest that dysfunction in non-neuronal glial cell types also contributes to disease pathogenesis. This article explores the role of glial cells in HD and SCA and the potential for developing glia-focused neurotherapeutics.
Article
Medicine, General & Internal
Greger Lindberg, Ghazaleh Mohammadian
Summary: Two-thirds of previously diagnosed IBS patients from the 1970s have been identified as having treatable conditions, leaving a significant number of patients who still experience unexplained IBS-like symptoms. Connective tissue disorders and autism spectrum disorders are the two main groups that require attention in clinical settings. Patients with connective tissue disorders show disturbances in gut motor function and increased gut permeability, while those with autism spectrum disorders have difficulties in perceiving gut signals and often exhibit anxiety and excessive worry. Early recognition of autism spectrum disorders is crucial for improving the management of gastrointestinal symptoms and associated extraintestinal symptoms.
FRONTIERS IN MEDICINE
(2023)