Proprioceptive and tactile processing in individuals with Friedreich ataxia: an fMRI study
This study aims to better evaluate the contribution of somatosensory processing to ataxia clinical severity by simultaneously investigating passive movement and tactile pneumatic stimulation in individuals with FA.MethodsTwenty patients with FA and 20 healthy participants were included. All subjects underwent two 6 min block-design functional magnetic resonance imaging (fMRI) paradigms consisting of twelve 30 s alternating blocks (10 brain volumes per block, 120 brain volumes per paradigm) of a tactile oddball paradigm and a passive movement paradigm. Spearman rank correlation tests were used for correlations between B...
Source: Frontiers in Neurology - September 22, 2023 Category: Neurology Source Type: research
Patient-derived iPSC models of Friedreich ataxia: a new frontier for understanding disease mechanisms and therapeutic application
AbstractFriedreich ataxia (FRDA) is a rare genetic multisystem disorder caused by a pathological GAA trinucleotide repeat expansion in theFXN gene. The numerous drawbacks of historical cellular and rodent models of FRDA have caused difficulty in performing effective mechanistic and translational studies to investigate the disease. The recent discovery and subsequent development of induced pluripotent stem cell (iPSC) technology provides an exciting platform to enable enhanced disease modelling for studies of rare genetic diseases. Utilising iPSCs, researchers have created phenotypically relevant and previously inaccessible...
Source: Translational Neurodegeneration - September 20, 2023 Category: Neurology Source Type: research
Health-Related Quality of Life in Patients with Spinocerebellar Ataxia: a Validation Study of the EQ-5D-3L
The objective of this study is to assess the acceptability, validity, reliability, and responsiveness of the EQ-5D-3L. For n = 842 predominantly European SCA patients of two longitudinal cohort studies, the EQ-5D-3L, PHQ-9 (Patient Health Questionnaire), and ataxia-specific clinical assessments (SARA: Scale for Assessment and Rating of Ataxia; ADL: activities of daily living as part of Friedreich's Ataxia Rating Scale; INAS: Inventory of Non-Ataxia Signs) were assessed at baseline and multiple annual follow-ups. The EQ-5D-3L was evaluated regarding acceptability, distribution properties, convergent and known-groups validit...
Source: Cerebellum - September 15, 2023 Category: Neuroscience Authors: Maresa Buchholz Niklas Weber Anika R ädke Jennifer Faber Tanja Schmitz-H übsch Heike Jacobi Feng Xie Thomas Klockgether Bernhard Michalowsky EUROSCA study group ESMI study group Source Type: research
Health-Related Quality of Life in Patients with Spinocerebellar Ataxia: a Validation Study of the EQ-5D-3L
The objective of this study is to assess the acceptability, validity, reliability, and responsiveness of the EQ-5D-3L. For n = 842 predominantly European SCA patients of two longitudinal cohort studies, the EQ-5D-3L, PHQ-9 (Patient Health Questionnaire), and ataxia-specific clinical assessments (SARA: Scale for Assessment and Rating of Ataxia; ADL: activities of daily living as part of Friedreich's Ataxia Rating Scale; INAS: Inventory of Non-Ataxia Signs) were assessed at baseline and multiple annual follow-ups. The EQ-5D-3L was evaluated regarding acceptability, distribution properties, convergent and known-groups validit...
Source: Cerebellum - September 15, 2023 Category: Neuroscience Authors: Maresa Buchholz Niklas Weber Anika R ädke Jennifer Faber Tanja Schmitz-H übsch Heike Jacobi Feng Xie Thomas Klockgether Bernhard Michalowsky EUROSCA study group ESMI study group Source Type: research
Friedreich's Ataxia-Health Index: Development and Validation of a Novel Disease-Specific Patient-Reported Outcome Measure
Discussion
Initial evaluation of the FA-HI supports its validity and reliability as a PRO for assessing how individuals with FA feel and function. (Source: Neurology Clinical Practice)
Source: Neurology Clinical Practice - August 28, 2023 Category: Neurology Authors: Seabury, J., Rosero, S., Varma, A., Weinstein, J., Engebrecht, C., Dilek, N., Heatwole, J., Alexandrou, D., Cohen, B., Larkindale, J., Lynch, D. R., Park, C., Subramony, S. H., Wagner, E., Walther, S., Wells, M., Zizzi, C., Heatwole, C. Tags: Outcome research, Quality of life, Gait disorders/ataxia Research Article Source Type: research
Halogens engineering-based design of agonists for boosting expression of frataxin protein in Friedreich's ataxia
CONCLUSIONS: The selected agonist is one of the most potent compounds in increasing Frataxin protein expression. Furthermore, optimization with halogens can be a productive approach to improve the candidate's drug efficacy. The development of effective medications for the treatment of Friedreich ataxia would be aided by the results of these computational investigations.PMID:37606107 | DOI:10.26355/eurrev_202308_33269 (Source: Pharmacological Reviews)
Source: Pharmacological Reviews - August 22, 2023 Category: Drugs & Pharmacology Authors: M Naveed I Ali T Aziz N Ain M A Shabbir K Javed M Alharbi A Alshammari A F Alasmari S A Alharbi M S Alharbi Source Type: research
Halogens engineering-based design of agonists for boosting expression of frataxin protein in Friedreich's ataxia
CONCLUSIONS: The selected agonist is one of the most potent compounds in increasing Frataxin protein expression. Furthermore, optimization with halogens can be a productive approach to improve the candidate's drug efficacy. The development of effective medications for the treatment of Friedreich ataxia would be aided by the results of these computational investigations.PMID:37606107 | DOI:10.26355/eurrev_202308_33269 (Source: European Review for Medical and Pharmacological Sciences)
Source: European Review for Medical and Pharmacological Sciences - August 22, 2023 Category: Drugs & Pharmacology Authors: M Naveed I Ali T Aziz N Ain M A Shabbir K Javed M Alharbi A Alshammari A F Alasmari S A Alharbi M S Alharbi Source Type: research
Halogens engineering-based design of agonists for boosting expression of frataxin protein in Friedreich's ataxia
CONCLUSIONS: The selected agonist is one of the most potent compounds in increasing Frataxin protein expression. Furthermore, optimization with halogens can be a productive approach to improve the candidate's drug efficacy. The development of effective medications for the treatment of Friedreich ataxia would be aided by the results of these computational investigations.PMID:37606107 | DOI:10.26355/eurrev_202308_33269 (Source: Molecular Medicine)
Source: Molecular Medicine - August 22, 2023 Category: Molecular Biology Authors: M Naveed I Ali T Aziz N Ain M A Shabbir K Javed M Alharbi A Alshammari A F Alasmari S A Alharbi M S Alharbi Source Type: research
Halogens engineering-based design of agonists for boosting expression of frataxin protein in Friedreich's ataxia
CONCLUSIONS: The selected agonist is one of the most potent compounds in increasing Frataxin protein expression. Furthermore, optimization with halogens can be a productive approach to improve the candidate's drug efficacy. The development of effective medications for the treatment of Friedreich ataxia would be aided by the results of these computational investigations.PMID:37606107 | DOI:10.26355/eurrev_202308_33269 (Source: Pharmacological Reviews)
Source: Pharmacological Reviews - August 22, 2023 Category: Drugs & Pharmacology Authors: M Naveed I Ali T Aziz N Ain M A Shabbir K Javed M Alharbi A Alshammari A F Alasmari S A Alharbi M S Alharbi Source Type: research
Halogens engineering-based design of agonists for boosting expression of frataxin protein in Friedreich's ataxia
CONCLUSIONS: The selected agonist is one of the most potent compounds in increasing Frataxin protein expression. Furthermore, optimization with halogens can be a productive approach to improve the candidate's drug efficacy. The development of effective medications for the treatment of Friedreich ataxia would be aided by the results of these computational investigations.PMID:37606107 | DOI:10.26355/eurrev_202308_33269 (Source: European Review for Medical and Pharmacological Sciences)
Source: European Review for Medical and Pharmacological Sciences - August 22, 2023 Category: Drugs & Pharmacology Authors: M Naveed I Ali T Aziz N Ain M A Shabbir K Javed M Alharbi A Alshammari A F Alasmari S A Alharbi M S Alharbi Source Type: research
