LIVIVO - The Search Portal for Life Sciences

zur deutschen Oberfläche wechseln
Advanced search

Search results

Result 1 - 10 of total 454

Search options

  1. Article ; Online: Consensus Recommendations for Clinical Outcome Assessments and Registry Development in Ataxias: Ataxia Global Initiative (AGI) Working Group Expert Guidance.

    Klockgether, Thomas / Synofzik, Matthis

    Cerebellum (London, England)

    2023  

    Abstract: To accelerate and facilitate clinical trials, the Ataxia Global Initiative (AGI) was established as a worldwide research platform for trial readiness in ataxias. One of AGI's major goals is the harmonization and standardization of outcome assessments. ... ...

    Abstract To accelerate and facilitate clinical trials, the Ataxia Global Initiative (AGI) was established as a worldwide research platform for trial readiness in ataxias. One of AGI's major goals is the harmonization and standardization of outcome assessments. Clinical outcome assessments (COAs) that describe or reflect how a patient feels or functions are indispensable for clinical trials, but similarly important for observational studies and in routine patient care. The AGI working group on COAs has defined a set of data including a graded catalog of COAs that are recommended as a standard for future assessment and sharing of clinical data and joint clinical studies. Two datasets were defined: a mandatory dataset (minimal dataset) that can ideally be obtained during a routine clinical consultation and a more demanding extended dataset that is useful for research purposes. In the future, the currently most widely used clinician-reported outcome measure (ClinRO) in ataxia, the scale for the assessment and rating of ataxia (SARA), should be developed into a generally accepted instrument that can be used in upcoming clinical trials. Furthermore, there is an urgent need (i) to obtain more data on ataxia-specific, patient-reported outcome measures (PROs), (ii) to demonstrate and optimize sensitivity to change of many COAs, and (iii) to establish methods and evidence of anchoring change in COAs in patient meaningfulness, e.g., by determining patient-derived minimally meaningful thresholds of change.
    Language English
    Publishing date 2023-04-05
    Publishing country United States
    Document type Journal Article ; Review
    ZDB-ID 2112586-7
    ISSN 1473-4230 ; 1473-4222
    ISSN (online) 1473-4230
    ISSN 1473-4222
    DOI 10.1007/s12311-023-01547-z
    Database MEDical Literature Analysis and Retrieval System OnLINE

    Full text online

    More links

    Kategorien

    In stock of ZB MED Cologne/Königswinter

    Zs.A 5795: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (2.OG)
    ab Jg. 2022: Lesesaal (EG)

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

  2. Article ; Online: Parkinsonism in neurodegenerative diseases predominantly presenting with ataxia.

    Synofzik, Matthis

    International review of neurobiology

    2019  Volume 149, Page(s) 277–298

    Abstract: The number of molecularly defined degenerative ataxia diseases is rapidly increasing, many of them involving complex multisystemic presentations including parkinsonism. The increasing number of novel ataxia genes -with most of them being ultra-rare - ... ...

    Abstract The number of molecularly defined degenerative ataxia diseases is rapidly increasing, many of them involving complex multisystemic presentations including parkinsonism. The increasing number of novel ataxia genes -with most of them being ultra-rare - often makes it difficult for clinicians and scientists to identify the molecular diagnosis underlying these ataxia-parkinsonism syndromes. Here we aim to provide an overview on the most frequent diseases and molecular causes underlying ataxia-parkinsonism, focusing both on novel aspects of well-known causes of ataxia-parkinsonism (MSA-C, PSP-C, FXTAS, repeat-expansion spinocerebellar ataxias [SCAs], conventional mutation SCAs) as well as on more recently identified rare genetic causes of ataxia-parkinsonism (AT, POLG, SPG7). We demonstrate that frequency data and phenotype characteristics help to guide diagnostics in patients with unexplained ataxia-parkinsonism, while the newly identified rare genetic causes of ataxia-parkinsonism provide novel insights into molecular key pathways underlying the shared vulnerability of cerebellar and basal ganglia neurons.
    MeSH term(s) Ataxia/genetics ; Ataxia/physiopathology ; Humans ; Multiple System Atrophy/genetics ; Multiple System Atrophy/physiopathology ; Parkinsonian Disorders/genetics ; Parkinsonian Disorders/physiopathology
    Language English
    Publishing date 2019-11-21
    Publishing country United States
    Document type Journal Article ; Review
    ZDB-ID 209876-3
    ISSN 2162-5514 ; 0074-7742
    ISSN (online) 2162-5514
    ISSN 0074-7742
    DOI 10.1016/bs.irn.2019.10.019
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

    In stock of ZB MED Cologne/Königswinter

    Ui II Zs.180: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular
    ab Jg. 2022: Lesesaal (EG)

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

  3. Article ; Online: 4-Aminopyridine improves real-life gait performance in SCA27B on a single-subject level: a prospective n-of-1 treatment experience.

    Seemann, Jens / Traschütz, Andreas / Ilg, Winfried / Synofzik, Matthis

    Journal of neurology

    2023  Volume 270, Issue 11, Page(s) 5629–5634

    MeSH term(s) Humans ; 4-Aminopyridine/therapeutic use ; Prospective Studies ; Gait ; Potassium Channel Blockers/therapeutic use
    Chemical Substances 4-Aminopyridine (BH3B64OKL9) ; Potassium Channel Blockers
    Language English
    Publishing date 2023-07-13
    Publishing country Germany
    Document type Letter ; Research Support, Non-U.S. Gov't
    ZDB-ID 187050-6
    ISSN 1432-1459 ; 0340-5354 ; 0012-1037 ; 0939-1517 ; 1619-800X
    ISSN (online) 1432-1459
    ISSN 0340-5354 ; 0012-1037 ; 0939-1517 ; 1619-800X
    DOI 10.1007/s00415-023-11868-y
    Database MEDical Literature Analysis and Retrieval System OnLINE

    Full text online

    More links

    Kategorien

    In stock of ZB MED Cologne/Königswinter

    Ui II Zs.40: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular
    ab Jg. 2022: Lesesaal (EG)

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

  4. Article: Ataxia and spastic paraplegia in mitochondrial disease.

    Synofzik, Matthis / Rugarli, Elena / Reid, Evan / Schüle, Rebecca

    Handbook of clinical neurology

    2023  Volume 194, Page(s) 79–98

    Abstract: Degenerative ataxias and hereditary spastic paraplegias (HSPs) form a continuous, often overlapping disease spectrum sharing not only phenotypic features and underlying genes, but also cellular pathways and disease mechanisms. Mitochondrial metabolism ... ...

    Abstract Degenerative ataxias and hereditary spastic paraplegias (HSPs) form a continuous, often overlapping disease spectrum sharing not only phenotypic features and underlying genes, but also cellular pathways and disease mechanisms. Mitochondrial metabolism presents a major molecular theme underlying both multiple ataxias and HSPs, thus indicating a heightened vulnerability of Purkinje cells, spinocerebellar tracts, and motor neurons to mitochondrial dysfunction, which is of particular interest for translational approaches. Mitochondrial dysfunction might be the primary (upstream) or secondary (downstream) result of a genetic defect, with underlying genetic defects in nuclear-encoded genes being much more frequent than in mtDNA genes in both, ataxias and HSPs. Here, we outline the substantial number of ataxias, spastic ataxias and HSPs caused by mutated genes implicated in (primary or secondary) mitochondrial dysfunction, highlighting several key "mitochondrial" ataxias and HSPs which are of particular interest for their frequency, pathogenesis and translational opportunities. We then showcase prototypic mitochondrial mechanisms by which disruption of these ataxia and HSP genes contributes to Purkinje cells or corticospinal neuron dysfunction, thus elucidating hypotheses on Purkinje cells and corticospinal neuron vulnerability to mitochondrial dysfunction.
    MeSH term(s) Humans ; Ataxia ; Spinocerebellar Ataxias/genetics ; Spastic Paraplegia, Hereditary/genetics ; Mitochondrial Diseases ; Paraplegia ; Mutation
    Language English
    Publishing date 2023-02-22
    Publishing country Netherlands
    Document type Review ; Journal Article
    ISSN 0072-9752
    ISSN 0072-9752
    DOI 10.1016/B978-0-12-821751-1.00009-9
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

  5. Article: Genetische Diagnostik zerebellärer Ataxien

    Schöls, Ludger / Synofzik, Matthis

    Nervenheilkunde

    2023  Volume 42, Issue 01/02, Page(s) 66–72

    Abstract: Hereditäre Ataxien werden aufgrund ihrer genetischen Grundlage zu Vorreitern einer zielgerichteten molekularen Präzisionsmedizin in der Neurologie. Neben diversen Small-molecule-Ansätzen werden erste Antisense-Oligonukleotid (ASO)-Therapiestudien ... ...

    Abstract Hereditäre Ataxien werden aufgrund ihrer genetischen Grundlage zu Vorreitern einer zielgerichteten molekularen Präzisionsmedizin in der Neurologie. Neben diversen Small-molecule-Ansätzen werden erste Antisense-Oligonukleotid (ASO)-Therapiestudien erwartet. Dabei gestaltet sich jedoch die vorausgehende klinisch-genetische Aufarbeitung degenerativer Ataxie-Erkrankungen schwierig, angesichts einer zunehmenden, selbst für Experten oftmals kaum überschaubaren Anzahl neuer – teils häufiger, teils extremst seltener – genetischer Ataxie-Erkrankungen. Die vorliegende Arbeit gibt eine pragmatische Orientierung für Nichtataxie-Experten für die klinisch-genetische Aufarbeitung von Patienten mit degenerativer Ataxie. Nach einer allgemeinen Einführung zu besonderen Aspekten bei der Untersuchung und Anamnese bei Ataxie-Patienten werden vor allem Häufigkeit und Therapierelevanz der jeweiligen Ataxie-Typen berücksichtigt und ein praktisch orientierter genetischer diagnostischer Algorithmus vorgestellt.
    Keywords Ataxie ; Genetik ; Diagnostik ; Next generation sequencing ; Ataxia ; genetics ; diagnostics ; next-generation sequencing
    Language German
    Publishing date 2023-02-01
    Publisher © Georg Thieme Verlag KG Stuttgart · New York
    Publishing place Stuttgart ; New York
    Document type Article
    ZDB-ID 2223503-6
    ISSN 2567-5788 ; 0722-1541
    ISSN (online) 2567-5788
    ISSN 0722-1541
    DOI 10.1055/a-1927-0580
    Database Thieme publisher's database

    More links

    Kategorien

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

  6. Article: Genetische Diagnostik zerebellärer Ataxien

    Schöls, Ludger / Synofzik, Matthis

    Nervenheilkunde

    2023  Volume 42, Issue 1, Page(s) 66

    Language German
    Document type Article
    ZDB-ID 604504-2
    ISSN 0722-1541
    Database Current Contents Medicine

    More links

    Kategorien

    In stock of ZB MED Cologne/Königswinter

    Zs.A 1715: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (1.OG)
    ab Jg. 2022: Lesesaal (EG)

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

  7. Article ; Online: An iPSC model for POLR3A-associated spastic ataxia: Generation of three unrelated patient cell lines.

    Manibarathi, Kalaivani / Pham, Tam / Hengel, Holger / Synofzik, Matthis / Nagel, Maike / Schüle, Rebecca

    Stem cell research

    2024  Volume 76, Page(s) 103363

    Abstract: Spastic Ataxias (SA) are a group of neurodegenerative disorders with combined pyramidal and cerebellar system affection, leading to an overlap phenotype between Hereditary Spastic Paraplegias (HSP) and Cerebellar Ataxias (CA). Here we describe the ... ...

    Abstract Spastic Ataxias (SA) are a group of neurodegenerative disorders with combined pyramidal and cerebellar system affection, leading to an overlap phenotype between Hereditary Spastic Paraplegias (HSP) and Cerebellar Ataxias (CA). Here we describe the generation of iPSCs from three unrelated patients with an ultra-rare subtype of SA caused by compound heterozygous mutations in POLR3A, that encodes the largest subunit of RNA polymerase III. iPSCs were reprogrammed from normal human dermal fibroblasts (NHDFs) using episomal reprogramming with integration-free plasmid vectors: HIHRSi004-A, derived from a 44 year-old male carrying the mutations c.1909 + 22G > A/c.3944_3945delTG, HIHRSi005-A obtained from a 66 year-old male carrying the mutations c.1909 + 22G > A/c.1531C > T, and HIHRSi006-A from a 27 year-old male carrying the mutations c.1909 + 22G > A/c.2472_2472delC (ENST00000372371.8).
    MeSH term(s) Adult ; Aged ; Humans ; Male ; Cell Line ; Induced Pluripotent Stem Cells/metabolism ; Intellectual Disability ; Muscle Spasticity/genetics ; Mutation ; Optic Atrophy ; RNA Polymerase III/genetics ; RNA Polymerase III/metabolism ; Spinocerebellar Ataxias/genetics
    Chemical Substances POLR3A protein, human (EC 2.7.7.6) ; RNA Polymerase III (EC 2.7.7.6)
    Language English
    Publishing date 2024-02-25
    Publishing country England
    Document type Journal Article
    ZDB-ID 2393143-7
    ISSN 1876-7753 ; 1873-5061
    ISSN (online) 1876-7753
    ISSN 1873-5061
    DOI 10.1016/j.scr.2024.103363
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

  8. Article ; Online: Prediction of Individual Disease Progression Including Parameter Uncertainty in Rare Neurodegenerative Diseases: The Example of Autosomal-Recessive Spastic Ataxia Charlevoix Saguenay (ARSACS).

    Hendrickx, Niels / Mentré, France / Traschütz, Andreas / Gagnon, Cynthia / Schüle, Rebecca / Synofzik, Matthis / Comets, Emmanuelle

    The AAPS journal

    2024  Volume 26, Issue 3, Page(s) 57

    Abstract: The aim of this study was to develop a model to predict individual subject disease trajectories including parameter uncertainty and accounting for missing data in rare neurological diseases, showcased by the ultra-rare disease Autosomal-Recessive Spastic ...

    Abstract The aim of this study was to develop a model to predict individual subject disease trajectories including parameter uncertainty and accounting for missing data in rare neurological diseases, showcased by the ultra-rare disease Autosomal-Recessive Spastic Ataxia Charlevoix Saguenay (ARSACS). We modelled the change in SARA (Scale for Assessment and Rating of Ataxia) score versus Time Since Onset of symptoms using non-linear mixed effect models for a population of 173 patients with ARSACS included in the prospective real-world multicenter Autosomal Recessive Cerebellar Ataxia (ARCA) registry. We used the Multivariate Imputation Chained Equation (MICE) algorithm to impute missing covariates, and a covariate selection procedure with a pooled p-value to account for the multiply imputed data sets. We then investigated the impact of covariates and population parameter uncertainty on the prediction of the individual trajectories up to 5 years after their last visit. A four-parameter logistic function was selected. Men were estimated to have a 25% lower SARA score at disease onset and a moderately higher maximum SARA score, and time to progression (T50) was estimated to be 35% lower in patients with age of onset over 15 years. The population disease progression rate started slowly at 0.1 points per year peaking to a maximum of 0.8 points per year (at 36.8 years since onset of symptoms). The prediction intervals for SARA scores 5 years after the last visit were large (median 7.4 points, Q1-Q3: 6.4-8.5); their size was mostly driven by individual parameter uncertainty and individual disease progression rate at that time.
    MeSH term(s) Adolescent ; Adult ; Child ; Female ; Humans ; Male ; Middle Aged ; Young Adult ; Disease Progression ; Muscle Spasticity/genetics ; Prospective Studies ; Rare Diseases/genetics ; Registries ; Severity of Illness Index ; Spinocerebellar Ataxias/genetics ; Spinocerebellar Ataxias/congenital ; Uncertainty ; Infant, Newborn ; Infant ; Child, Preschool
    Language English
    Publishing date 2024-04-30
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ISSN 1550-7416
    ISSN (online) 1550-7416
    DOI 10.1208/s12248-024-00925-7
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

    Inter-library loan at ZB MED

    Your chosen title can be delivered directly to ZB MED Cologne location if you are registered as a user at ZB MED Cologne.

  9. Article ; Online: Cerebellar Bottom of Fissure Hyperintensities in MT-ATP6-Associated Ataxia.

    Roeben, Benjamin / Bültmann, Eva / Stendel, Claudia / Synofzik, Matthis

    Annals of neurology

    2022  Volume 91, Issue 3, Page(s) 438–440

    MeSH term(s) Adolescent ; Ataxia/diagnostic imaging ; Ataxia/genetics ; Cerebellum/diagnostic imaging ; Female ; Humans ; Magnetic Resonance Imaging ; Mitochondrial Proton-Translocating ATPases/genetics
    Chemical Substances MT-ATP6 protein, human ; Mitochondrial Proton-Translocating ATPases (EC 3.6.3.-)
    Language English
    Publishing date 2022-02-11
    Publishing country United States
    Document type Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 80362-5
    ISSN 1531-8249 ; 0364-5134
    ISSN (online) 1531-8249
    ISSN 0364-5134
    DOI 10.1002/ana.26311
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

    In stock of ZB MED Cologne/Königswinter

    Zs.A 1370: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (1.OG)
    ab Jg. 2022: Lesesaal (EG)
    Zs.MO 478: Show issues

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

  10. Article ; Online: Expanding PRDX3 disease: broad range of onset age and infratentorial MRI signal changes.

    Rebelo, Adriana P / Bender, Benjamin / Haack, Tobias B / Zuchner, Stephan / Basak, A Nazli / Synofzik, Matthis

    Brain : a journal of neurology

    2023  Volume 145, Issue 10, Page(s) e95–e98

    MeSH term(s) Humans ; Age of Onset ; Peroxiredoxin III ; Magnetic Resonance Imaging
    Chemical Substances Peroxiredoxin III (EC 1.11.1.15) ; PRDX3 protein, human (EC 1.11.1.15)
    Language English
    Publishing date 2023-01-18
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Research Support, N.I.H., Extramural
    ZDB-ID 80072-7
    ISSN 1460-2156 ; 0006-8950
    ISSN (online) 1460-2156
    ISSN 0006-8950
    DOI 10.1093/brain/awac240
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

    In stock of ZB MED Cologne/Königswinter

    Ui II Zs.26: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular
    ab Jg. 2022: Lesesaal (EG)

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

To top