Susan Perlman
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View article: Predictive models for ataxia progression and conversion in spinocerebellar ataxia type 1 and 3
Predictive models for ataxia progression and conversion in spinocerebellar ataxia type 1 and 3 Open
The READISCA study aims to prepare for clinical trials in SCA1 and SCA3. Hence, we searched for predictive variables of ataxia onset (phenoconversion) and progression. Individuals with SCA1 or SCA3 and controls were enrolled from 2018-2021…
View article: Development and validation of a composite digital balance score for spinocerebellar ataxia: a prospective study
Development and validation of a composite digital balance score for spinocerebellar ataxia: a prospective study Open
Biogen, Clario, Pfizer, and the Alexander von Humboldt Foundation.
View article: Prevalence, Severity, and Progression of Cerebellar Cognitive-Affective Syndrome in Patients With Spinocerebellar Ataxias
Prevalence, Severity, and Progression of Cerebellar Cognitive-Affective Syndrome in Patients With Spinocerebellar Ataxias Open
We observed early cognitive impairment in PolyQ SCA carriers, correlating with clinical measures, NfL levels, and cerebellum volume. Improvement over 3 years likely reflects a practice effect, potentially limiting the scale's longitudinal …
View article: Propensity-matched analysis comparing omaveloxolone treatment to Friedreich ataxia natural history data: a plain language summary
Propensity-matched analysis comparing omaveloxolone treatment to Friedreich ataxia natural history data: a plain language summary Open
View article: Disease Progression in Children With Friedreich Ataxia: Functional Performance and Other Outcome Assessments in the FACHILD Study
Disease Progression in Children With Friedreich Ataxia: Functional Performance and Other Outcome Assessments in the FACHILD Study Open
Background Friedreich ataxia is a rare genetic disorder caused by mutations in the FXN gene, typically presenting with balance and coordination difficulties between ages 7 and 15 years. Neurologic symptoms are progressive and lead to loss …
View article: Managing Aminotransferase Elevations in Patients with Friedreich Ataxia Treated with Omaveloxolone: A Review and Expert Opinion on Use Considerations
Managing Aminotransferase Elevations in Patients with Friedreich Ataxia Treated with Omaveloxolone: A Review and Expert Opinion on Use Considerations Open
Omaveloxolone is approved for the treatment of Friedreich ataxia (FA) in patients aged ≥ 16 years and is under clinical development for pediatric patients. In the MOXIe study, alanine and aspartate aminotransferase (ALT and AST) elevations…
View article: Spinocerebellar Ataxia Progression Measured with the Patient‐Reported Outcome Measure of Ataxia
Spinocerebellar Ataxia Progression Measured with the Patient‐Reported Outcome Measure of Ataxia Open
Background The Patient‐Reported Outcome Measure of Ataxia (PROM‐Ataxia) has been validated cross‐sectionally but not longitudinally. Objective We aimed to validate PROM‐Ataxia as a measure of patient experience of disease over time, examin…
View article: Long-term safety of dexamethasone sodium phosphate encapsulated in autologous erythrocytes in pediatric patients with ataxia telangiectasia
Long-term safety of dexamethasone sodium phosphate encapsulated in autologous erythrocytes in pediatric patients with ataxia telangiectasia Open
Background Dexamethasone sodium phosphate (DSP) encapsulated in autologous erythrocytes (EryDex) was developed as an alternative to standard glucocorticoids in an effort to eliminate chronic steroid toxicity while preserving efficacy. The …
View article: Safety and efficacy of intra-erythrocyte dexamethasone sodium phosphate in children with ataxia telangiectasia (ATTeST): a multicentre, randomised, double-blind, placebo-controlled phase 3 trial
Safety and efficacy of intra-erythrocyte dexamethasone sodium phosphate in children with ataxia telangiectasia (ATTeST): a multicentre, randomised, double-blind, placebo-controlled phase 3 trial Open
View article: Racial Disparities in Time to Huntington Disease Diagnosis in North America
Racial Disparities in Time to Huntington Disease Diagnosis in North America Open
Across multiple statistical models, Black ENROLL-HD participants were diagnosed with HD 1 year later than White participants. Clinical factors suggesting a delay in HD diagnosis included psychiatric symptoms at disease onset and a negative…
View article: SARA captures disparate progression and responsiveness in spinocerebellar ataxias
SARA captures disparate progression and responsiveness in spinocerebellar ataxias Open
View article: Evaluating <scp>mFARS</scp> in pediatric Friedreich's ataxia: Insights from the <scp>FACHILD</scp> study
Evaluating <span>mFARS</span> in pediatric Friedreich's ataxia: Insights from the <span>FACHILD</span> study Open
Objectives Friedreich ataxia (FRDA) is a rare genetic disorder caused by mutations in the FXN gene, leading to progressive coordination loss and other symptoms. The recently approved omaveloxolone targets this condition but is limited to p…
View article: Fatigue Impacts Quality of Life in People with Spinocerebellar Ataxias
Fatigue Impacts Quality of Life in People with Spinocerebellar Ataxias Open
Background Fatigue is a prevalent and debilitating symptom in neurological disorders, including spinocerebellar ataxias (SCAs). However, the risk factors of fatigue in the SCAs as well as its impact have not been well investigated. Objecti…
View article: The Cerebellar Cognitive Affective/Schmahmann Syndrome Scale in Spinocerebellar Ataxias
The Cerebellar Cognitive Affective/Schmahmann Syndrome Scale in Spinocerebellar Ataxias Open
View article: A Multi-Center, Randomized, Double-Blind, Placebo-Controlled Trial to Evaluate Effects of Intra-Erythrocyte Dexamethasone Sodium Phosphate (EryDex) on Neurological Symptoms in Patients with Ataxia-Telangiectasia (ATTeST)
A Multi-Center, Randomized, Double-Blind, Placebo-Controlled Trial to Evaluate Effects of Intra-Erythrocyte Dexamethasone Sodium Phosphate (EryDex) on Neurological Symptoms in Patients with Ataxia-Telangiectasia (ATTeST) Open
View article: CRPD frontiers in movement disorders Therapeutics: From evidence to treatment and applications
CRPD frontiers in movement disorders Therapeutics: From evidence to treatment and applications Open
The genetic ataxias have no cures and no proven ways to delay progression (no disease-modifying therapies). The acquired ataxias may have treatments that address the underlying cause and may slow or stop progression, but will not reverse d…
View article: Predictive Models for Ataxia Progression and Conversion in Sca1 and Sca3
Predictive Models for Ataxia Progression and Conversion in Sca1 and Sca3 Open
View article: The Cerebellar Cognitive Affective / Schmahmann Syndrome Scale in Spinocerebellar Ataxias
The Cerebellar Cognitive Affective / Schmahmann Syndrome Scale in Spinocerebellar Ataxias Open
The Cerebellar Cognitive Affective / Schmahmann Syndrome (CCAS) manifests as impaired executive control, linguistic processing, visual spatial function and affect regulation. The CCAS has been described in the spinocerebellar ataxias (SCAs…
View article: Frataxin analysis using triple quadrupole mass spectrometry: application to a large heterogeneous clinical cohort
Frataxin analysis using triple quadrupole mass spectrometry: application to a large heterogeneous clinical cohort Open
View article: Disparities in Huntington Disease Severity
Disparities in Huntington Disease Severity Open
Our study found that Black participants in North America presented to ENROLL-HD with more advanced disease than White patients. We also found that higher education was associated with less advanced disease when entering the ENROLL-HD study…
View article: Long non-coding RNA TUG1 is down-regulated in Friedreich’s ataxia
Long non-coding RNA TUG1 is down-regulated in Friedreich’s ataxia Open
Friedreich’s Ataxia (FRDA) is a neurodegenerative disorder caused by reduced frataxin (FXN) levels. It leads to motor and sensory impairments and has a median life expectancy of around 35 years. As the most common inherited form of ataxia …
View article: Propensity matched comparison of omaveloxolone treatment to Friedreich ataxia natural history data
Propensity matched comparison of omaveloxolone treatment to Friedreich ataxia natural history data Open
Objective The natural history of Friedreich ataxia is being investigated in a multi‐center longitudinal study designated the Friedreich ataxia Clinical Outcome Measures Study (FACOMS). To understand the utility of this study in analysis of…
View article: Development of cancer surveillance guidelines in ataxia telangiectasia: A Delphi‐based consensus survey of international experts
Development of cancer surveillance guidelines in ataxia telangiectasia: A Delphi‐based consensus survey of international experts Open
Background/Objectives Ataxia telangiectasia (A‐T) is a multiorgan disorder with increased vulnerability to cancer. Despite this increased cancer risk, there are no widely accepted guidelines for cancer surveillance in people affected by A‐…
View article: Quantitative Oculomotor Assessment in Hereditary Ataxia: Systematic Review and Consensus by the Ataxia Global Initiative Working Group on Digital-motor Biomarkers
Quantitative Oculomotor Assessment in Hereditary Ataxia: Systematic Review and Consensus by the Ataxia Global Initiative Working Group on Digital-motor Biomarkers Open
Oculomotor deficits are common in hereditary ataxia, but disproportionally neglected in clinical ataxia scales and as outcome measures for interventional trials. Quantitative assessment of oculomotor function has become increasingly availa…
View article: Consensus Recommendations for Clinical Outcome Assessments and Registry Development in Ataxias: Ataxia Global Initiative (AGI) Working Group Expert Guidance
Consensus Recommendations for Clinical Outcome Assessments and Registry Development in Ataxias: Ataxia Global Initiative (AGI) Working Group Expert Guidance Open
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 …
View article: SCAview: an Intuitive Visual Approach to the Integrative Analysis of Clinical Data in Spinocerebellar Ataxias
SCAview: an Intuitive Visual Approach to the Integrative Analysis of Clinical Data in Spinocerebellar Ataxias Open
With SCAview, we present a prompt and comprehensive tool that enables scientists to browse large datasets of the most common spinocerebellar ataxias intuitively and without technical effort. Basic concept is a visualization of data, with a…
View article: Baseline Clinical and Blood Biomarkers in Patients With Preataxic and Early-Stage Disease Spinocerebellar Ataxia 1 and 3
Baseline Clinical and Blood Biomarkers in Patients With Preataxic and Early-Stage Disease Spinocerebellar Ataxia 1 and 3 Open
ClinicalTrials.gov NCT03487367.
View article: Quantitative Oculomotor Assessment in Hereditary Ataxia: Discriminatory Power, Correlation with Severity Measures, and Recommended Parameters for Specific Genotypes
Quantitative Oculomotor Assessment in Hereditary Ataxia: Discriminatory Power, Correlation with Severity Measures, and Recommended Parameters for Specific Genotypes Open
Characterizing bedside oculomotor deficits is a critical factor in defining the clinical presentation of hereditary ataxias. Quantitative assessments are increasingly available and have significant advantages, including comparability over …
View article: Efficacy and Safety of N-Acetyl- <scp>l</scp> -Leucine in Children and Adults With GM2 Gangliosidoses
Efficacy and Safety of N-Acetyl- <span>l</span> -Leucine in Children and Adults With GM2 Gangliosidoses Open
This study provides Class IV evidence that NALL improves outcomes for patients with GM2 gangliosidoses.
View article: Efficacy of Omaveloxolone in Friedreich's Ataxia: <scp>Delayed‐Start</scp> Analysis of the <scp>MOXIe</scp> Extension
Efficacy of Omaveloxolone in Friedreich's Ataxia: <span>Delayed‐Start</span> Analysis of the <span>MOXIe</span> Extension Open
Background MOXIe was a two‐part study evaluating the safety and efficacy of omaveloxolone in patients with Friedreich's ataxia, a rare, progressive neurological disease with no proven therapy. MOXIe part 2, a randomized double‐blind placeb…