Novel intragenic deletion within the FXN gene in a patient with typical phenotype of Friedreich ataxia: may be more prevalent than we think?
Friedreich ataxia is the most common inherited ataxia in Europe and is mainly caused by biallelic pathogenic expansions of the GAA trinucleotide repeat in intron 1 of the FXN gene that lead to a decrease in frata... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - December 1, 2023 Category: Genetics & Stem Cells Authors: Cinthia Aguilera, Anna Esteve-Garcia, Carlos Casasnovas, Valentina V élez-Santamaria, Laura Rausell, Pablo Gargallo, Javier Garcia-Planells, Pedro Alía, Núria Llecha and Ariadna Padró-Miquel Tags: Case Report Source Type: research
PCR139 'We Have Conversations That Other Couples Don ′t Have to Have:' A Qualitative Study of the Impact of Caregiving in Friedreich Ataxia (FA)
In FA, a rare neuromuscular disease characterized by impaired motor function and speech, caregiving is typically required. A recent review of caregivers in rare inherited diseases identified gaps in understanding 1) mediators of burden, and 2) how impacts differ between parental and spousal caregivers. We sought to understand caregiver experiences in FA, and how impacts vary by caregiver type. (Source: Value in Health)
Source: Value in Health - December 1, 2023 Category: International Medicine & Public Health Authors: S. Szabo, A. Bever, D. Lynch, G. Vasco, P. Giunti, J. Vallortigara, I. Tomazos Source Type: research
PCR84 The Daily Life and Psychosocial Impacts of Friedreich Ataxia: A Qualitative Study of Patient Lived Experiences
This study sought to understand patient perspectives on the impact of FA symptoms on daily life and psychosocial wellbeing. (Source: Value in Health)
Source: Value in Health - December 1, 2023 Category: International Medicine & Public Health Authors: A. Bever, S. Szabo, J. Vallortigara, P. Giunti, D. Lynch, G. Vasco, I. Tomazos Source Type: research
CO142 A Retrospective Study Characterizing Age at Key Clinical Disease Indicators Among Patients With Friedreich Ataxia Using Health Administrative Claims Data in the United States
This study aimed to characterize the age at scoliosis, cardiomyopathy, and diabetes among a cohort of patients with FA, using retrospective United States (US) claims data. (Source: Value in Health)
Source: Value in Health - December 1, 2023 Category: International Medicine & Public Health Authors: A. Salvucci, C. Qian, L. Powell, D. Lynch, G. Vasco, K. Johnston, I. Tomazos Source Type: research
CO105 A Retrospective Study Characterizing Age at Loss of Ambulation Among Patients With Friedreich Ataxia Using Health Administrative Claims Data in the United States
This study aimed to characterize the age at LOA among a cohort of patients with FA, using retrospective United States (US) claims data. (Source: Value in Health)
Source: Value in Health - December 1, 2023 Category: International Medicine & Public Health Authors: A. Salvucci, C. Qian, L. Powell, D. Lynch, G. Vasco, K. Johnston, I. Tomazos Source Type: research
Health-Related Quality of Life in Patients with Inherited Ataxia in Ireland
This study aimed to assess the implications of inherited CA on patients' self-reported quality of life (QoL) and impairments in work and activities. 129 individuals with ataxia responded to a survey focused on QoL. Health-related QoL was measured using the RAND 36-Item Short Form Survey. An adaptation of the validated Work Productivity and Activity Impairment questionnaire was used to assess the effect of health on work productivity and ability to perform activities over the past week. Nine percent of respondents were currently employed. Individuals with inherited ataxia experienced significant activity impairment, and 75%...
Source: Cerebellum - November 27, 2023 Category: Neuroscience Authors: Poornima Jayadev Menon Tan Xin Yi Sharon Moran Richard A Walsh Sin éad M Murphy Petya Bogdanova-Mihaylova Source Type: research
Management of Friedreich Ataxia –Associated Cardiomyopathy in Pregnancy: A Review of the Literature
One of the clinical manifestations of Friedreich ataxia (FRDA), a rare, autosomal recessive condition caused by deficiency of the frataxin protein, is cardiomyopathy. A total of 60% of deaths from this condition are attributable to cardiac causes, and the life expectancy for patients with cardiac involvement is 29 to 38 years.1,2 Other clinical features of FRDA include ataxia, gait disturbances, hyporeflexia, spasticity, scoliosis, and diabetes mellitus.3–5 FRDA is caused by guanine-adenine-adenine trinucleotide repeat expansions in the frataxin gene on intron 1 of chromosome 9, leading to a deficiency of this protein....
Source: The American Journal of Cardiology - November 7, 2023 Category: Cardiology Authors: Ashleigh N. Peterson, Leigh C. Hickerson, E. Rebecca Pschirrer, Lynsy B. Friend, Cynthia C. Taub Source Type: research
Disease Delineation for Multiple Sclerosis, Friedreich Ataxia, and Healthy Controls Using Supervised Machine Learning on Speech Acoustics
Neurodegenerative disease often affects speech. Speech acoustics can be used as objective clinical markers of pathology. Previous investigations of pathological speech have primarily compared controls with one specific condition and excluded comorbidities. We broaden the utility of speech markers by examining how multiple acoustic features can delineate diseases. We used supervised machine learning with gradient boosting (CatBoost) to delineate healthy speech from speech of people with multiple sclerosis or Friedreich ataxia. Participants performed a diadochokinetic task where they repeated alternating syllables. We subjec...
Source: IEE Transactions on Neural Systems and Rehabilitation Engineering - November 3, 2023 Category: Neuroscience Source Type: research
Effectiveness of rehabilitation intervention in persons with Friedreich ataxia
We report that the IR significantly improves motor performance and ataxia symptoms in patients with FRDA. Our study shows significant functional improvement in all the outcome measures used, except for NHPT bilaterally. FARS and SARA scores post-IR are significatively reduced when compared (p < 0.001).DiscussionWe demonstrate that IR programs in FRDA can provide a meaningful clinical improvement in terms of outcome measures. These findings could be useful when approaching progressive neurological disorders. (Source: Frontiers in Neurology)
Source: Frontiers in Neurology - November 2, 2023 Category: Neurology Source Type: research
Therapeutic Biomarkers in Friedreich's Ataxia: a Systematic Review and Meta-analysis
Cerebellum. 2023 Oct 27. doi: 10.1007/s12311-023-01621-6. Online ahead of print.ABSTRACTAlthough a large array of biomarkers have been investigated in Friedreich's ataxia (FRDA) trials, the optimal biomarker for assessing disease progression or therapeutic benefit has yet to be identified. We searched PubMed, MEDLINE, and EMBASE databases up to June 2023 for any original study (with ≥ 5 participants and ≥ 2 months' follow-up) reporting the effect of therapeutic interventions on any clinical, cardiac, biochemical, patient-reported outcome measures, imaging, or neurophysiologic biomarker. We also explored the biomarkers'...
Source: Cerebellum - October 27, 2023 Category: Neuroscience Authors: Maria Gavriilaki Evangelia Chatzikyriakou Maria Moschou Marianthi Arnaoutoglou Ioanna Sakellari Vasilios K Kimiskidis Source Type: research
Therapeutic Biomarkers in Friedreich's Ataxia: a Systematic Review and Meta-analysis
Cerebellum. 2023 Oct 27. doi: 10.1007/s12311-023-01621-6. Online ahead of print.ABSTRACTAlthough a large array of biomarkers have been investigated in Friedreich's ataxia (FRDA) trials, the optimal biomarker for assessing disease progression or therapeutic benefit has yet to be identified. We searched PubMed, MEDLINE, and EMBASE databases up to June 2023 for any original study (with ≥ 5 participants and ≥ 2 months' follow-up) reporting the effect of therapeutic interventions on any clinical, cardiac, biochemical, patient-reported outcome measures, imaging, or neurophysiologic biomarker. We also explored the biomarkers'...
Source: Cerebellum - October 27, 2023 Category: Neuroscience Authors: Maria Gavriilaki Evangelia Chatzikyriakou Maria Moschou Marianthi Arnaoutoglou Ioanna Sakellari Vasilios K Kimiskidis Source Type: research
Therapeutic Biomarkers in Friedreich ’s Ataxia: a Systematic Review and Meta-analysis
AbstractAlthough a large array of biomarkers have been investigated in Friedreich ’s ataxia (FRDA) trials, the optimal biomarker for assessing disease progression or therapeutic benefit has yet to be identified. We searched PubMed, MEDLINE, and EMBASE databases up to June 2023 for any original study (with ≥ 5 participants and ≥ 2 months’ follow-up) reporting the e ffect of therapeutic interventions on any clinical, cardiac, biochemical, patient-reported outcome measures, imaging, or neurophysiologic biomarker. We also explored the biomarkers’ ability to detect subtle disease progression in untreated patie...
Source: The Cerebellum - October 27, 2023 Category: Neurology Source Type: research
End-of-Life Discussions With Patients and Caregivers Affected By Neurogenetic Diseases
Discussion
Being affected by severe neurogenetic diseases does not seem to prompt individuals to give much thought to end-of-life planning. However, patients and caregivers welcome comprehensive information and expect progressive support from trained health care professionals in having such discussions. Routine integration of these conversations into medical management through a holistic and adapted approach will benefit patients with illnesses with unfavorable long-term prognoses. (Source: Neurology Clinical Practice)
Source: Neurology Clinical Practice - October 16, 2023 Category: Neurology Authors: Anne-Claire, D., Coarelli, G., Heinzmann, A., Verdon, B., Manuella, D. L., Petit, E., Pierron, L., Levy-Soussan, M., Durr, A., Gargiulo, M., Ewenczyk, C. Tags: Huntington's disease, Spinocerebellar ataxia, Public health, All Ethics in Neurology/Legal issues, Palliative care Research Article Source Type: research
How Great a Risk Do You Take? A Qualitative Study Exploring Attitudes of Individuals with Friedreich Ataxia Toward Gene Therapy
Human Gene Therapy,Volume 34, Issue 19-20, Page 1041-1048, October 2023. (Source: Human Gene Therapy)
Source: Human Gene Therapy - October 16, 2023 Category: Genetics & Stem Cells Authors: Katherine Lieschke Varlli Scott Martin B. Delatycki Sharon Lewis Megan Munsie Claire Tanner Louise A. Corben Source Type: research
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
