About

Michael Baer, MD, MBE, is an Assistant Professor of Clinical Neurology and the Associate Director of the Penn ALS Center at the University of Pennsylvania's Perelman School of Medicine. His educational background includes a Bachelor of Science from Muhlenberg College and both an MBE and MD from the Perelman School of Medicine at the University of Pennsylvania. His professional focus is on neurology, with particular expertise in amyotrophic lateral sclerosis (ALS) and related neurodegenerative disorders. Dr. Baer has contributed to research on cognitive reserve in ALS, clinical use of therapeutic agents, brain atrophy in the ALS-FTD spectrum, and genetic testing in neurological disorders. He has also engaged in work aimed at improving ethical considerations and care planning in ALS, as well as developing fair and transparent processes for neuromuscular fellowship matching.

Research topics

• Medicine
• Internal medicine
• Psychiatry
• Physical medicine and rehabilitation
• Pathology
• Bioinformatics
• Genetics
• Family medicine
• Gerontology
• Biology
• Demography
• Psychology
• Intensive care medicine
• Environmental health
• Neuroscience

Selected publications

• Verdiperstat in Amyotrophic Lateral Sclerosis

  JAMA Neurology · 2025-02-17 · 11 citations

  letterOpen access

  Importance: Myeloperoxidase is one of the most abundant peroxidase enzymes in activated myeloid cells. Myeloperoxidase inhibitors may have a clinical benefit in amyotrophic lateral sclerosis (ALS) by slowing neurodegeneration via reduced neuroinflammation and oxidative stress. Objective: To determine the safety, tolerability, and efficacy of verdiperstat, a selective myeloperoxidase inhibitor, in ALS. Design Settings and Participants: Verdiperstat was tested as a regimen of the HEALEY ALS Platform Trial, a multicenter, double-blind, perpetual platform design, randomized clinical trial, with sharing of trial infrastructure and placebo data across multiple regimens. The study was conducted at 54 ALS referral centers across the US from July 2020 to April 2022. Adult participants with a diagnosis of clinically possible, probable, laboratory-supported probable, or definite ALS defined by the revised El Escorial criteria were randomized to verdiperstat or regimen-specific placebo. An additional group of participants concurrently randomized to placebo from other regimens was included in the analyses. Interventions: Eligible participants were randomized in a 3:1 ratio to receive oral verdiperstat, 600 mg, twice daily or matching placebo for a planned placebo-controlled duration of 24 weeks. Main Outcomes and Measures: The primary efficacy outcome was change from baseline through week 24 in disease severity, as measured by a joint model of ALS Functional Rating Scale-Revised and survival, with the treatment effect quantified by the disease rate ratio (DRR), with DRR less than 1 indicating a slowing in disease progression of verdiperstat relative to placebo. Results: A total of 167 participants (mean [SD] age, 58.5 [11.4] years; 59 [35.3%] female; 108 [64.6%] male) were randomized to either verdiperstat (126 [75.4%]) or to placebo (41 [25.6%]). Among the participants randomized to the verdiperstat regimen, 130 (78%) completed the trial. The estimated DRR was 0.98 (95% credible interval, 0.77-1.24; posterior probability = 0.57 for slowing of disease progression [DRR <1]). Verdiperstat was estimated to slow progression by 2% vs placebo (95% credible interval, -23% to 24%; posterior probability 0.57). Verdiperstat was overall safe and well tolerated. Common adverse events in the verdiperstat group were nausea, insomnia, and elevated thyrotropin levels. Conclusions and Relevance: Results demonstrate that treatment with verdiperstat was unlikely to alter disease progression in ALS. Trial Registration: Clinical Trial Identifiers: NCT04297683 and NCT04436510.

  PublisherOA PDFDOI

• Pridopidine in Amyotrophic Lateral Sclerosis

  JAMA · 2025-02-17 · 17 citations

  letterOpen access

  Importance: Amyotrophic lateral sclerosis (ALS) is a fatal disease. The sigma-1 (σ1) receptor emerged as a target for intervention. Objective: To determine the effects of pridopidine, a σ1-receptor agonist, in ALS. Design, Settings, and Participants: Pridopidine was tested as a regimen of the HEALEY ALS Platform Trial, a phase 2/3, multicenter, randomized, double-blind, platform trial. The study was conducted at 54 sites in the US from January 2021 to July 2022 (final follow-up, July 14, 2022). A total of 163 participants with ALS were randomized to receive pridopidine or placebo. An additional 122 concurrently randomized participants were assigned to receive placebo in other regimens and included in the analyses. Interventions: Eligible participants were randomized 3:1 to receive oral pridopidine 45 mg twice daily (n = 121) or matching oral placebo (n = 42) for a planned duration of 24 weeks. Main Outcomes and Measures: The primary efficacy outcome was change from baseline through week 24 in ALS disease severity, analyzed using a bayesian shared parameter model, which has components for function (Revised Amyotrophic Lateral Sclerosis Functional Rating Scale [ALSFRS-R]) and survival that were linked through an integrated estimate of treatment-dependent disease slowing across these 2 components. This was denoted as the disease rate ratio (DRR), with DRR less than 1 indicating a slowing in disease progression on pridopidine relative to placebo. There were 5 key secondary end points: time to 2-point or greater reduction in ALSFRS-R total score among participants with bulbar dysfunction at baseline, rate of decline in slow vital capacity among participants with bulbar dysfunction at baseline, percentage of participants with no worsening in the ALSFRS-R bulbar domain score, time to 1-point or greater change in the ALSFRS-R bulbar domain score, and time to death or permanent assisted ventilation. Results: Among 162 patients (mean age, 57.5 years; 35% female) who were randomized to receive the pridopidine regimen and included in the primary efficacy analysis, 136 (84%) completed the trial. In the primary analysis comparing pridopidine vs the combined placebo groups, there was no significant difference between pridopidine and placebo in the primary end point (DRR, 0.99 [95% credible interval, 0.80-1.21]; probability of DRR <1, 0.55) and no differences were seen in the components of ALSFRS-R or survival. There was no benefit of pridopidine on the secondary end points. In the safety dataset (pridopidine, n = 121; placebo, n = 163), the most common adverse events were falls (28.1% vs 29.3%, respectively) and muscular weakness (24.0% vs 31.7%, respectively). Conclusions and Relevance: In this 24-week study, pridopidine did not impact the progression of ALS. Trial Registration: ClinicalTrials.gov Identifiers: NCT04297683, NCT04615923.

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• Knee Kinetic Asymmetry In Collegiate Athletes Post-anterior Cruciate Ligament Reconstruction: Correlations Across Common Athletic Tasks

  Medicine & Science in Sports & Exercise · 2025-09-16

  article

  Objective clinical assessments after anterior cruciate ligament reconstruction (ACLR) are utilized to facilitate a successful return-to-sport (RTS) and reduce re-injury risk. These assessments typically include athletic tasks such as running, jumping, or hopping. It is unclear how closely knee biomechanics during one task are associated with another. Better understanding of these relationships may improve efficiency of RTS assessments and guide exercise selection and dosage. PURPOSE: Determine the associations between knee kinetic asymmetry across tasks in collegiate athletes near RTS. METHODS: Division I collegiate athletes 8.1 ± 1.6 months post-ACLR (n = 39; 22 Female, BMI: 25.4 ± 3.5 kg/m2) completed treadmill running (4.2 ± 0.4 m/s), countermovement jumps (CMJ), and single leg vertical jumps (SLJ) while 3D kinematics and ground reaction forces (GRF) were collected. Limb symmetry indices (LSI) of peak knee extensor moments (PKEM) during the stance phase of running (Run) and the takeoff (TO) and landing (LAND) phases of the CMJ and SLJ were calculated. Pearson correlations assessed the relationship between PKEM LSI across tasks and jump phases. RESULTS: Average (± standard deviation) PKEM LSIs were: 72.0 ± 17.6% (Run), 81.3 ± 11.8% (CMJTO), 81.4 ± 14.0% (CMJLAND), 74.9 ± 16.2% (SLJTO), and 70.5 ± 16.2% (SLJLAND). Significant positive correlations were observed between PKEM of all tasks (r range = 0.54 to 0.73; all p-values<0.001; see FIGURE for specific relationships). CONCLUSION: Knee kinetic asymmetries 8 months post-ACLR are moderately correlated between running, CMJ, and SLJ. Despite significant associations between all tasks, the wide confidence intervals suggest that knee kinetic asymmetry from a single task may not be clinically useful in predicting the asymmetry in another task. As such, screening multiple tasks may be necessary to best characterize kinetic symmetry and provide individualized care near RTS post-ACLR.

  PublisherDOI

• Polygenic associations with clinical and neuropathological trait heterogeneity across TDP-43 proteinopathies

  PLoS ONE · 2025-12-30

  articleOpen access

  TDP-43 proteinopathies, including amyotrophic lateral sclerosis (ALS), frontotemporal lobar degeneration with TDP-43 (FTLD-TDP), and limbic-predominant age-related TDP-43 encephalopathy, encompass a spectrum of clinical and neuropathological traits. Despite mounting evidence for shared genetic risk across TDP-43 proteinopathies, the modifiers of individual-level traits are unknown. We aimed to identify polygenic contributions to trait heterogeneity across TDP-43 proteinopathies. We used weighted correlation analysis of GWAS summary statistics for ALS, FTLD-TDP, and hippocampal sclerosis of aging (HS-Aging) to identify data-driven clusters of highly correlated single nucleotide polymorphisms (SNPs). We performed gene ontology enrichment analysis for each identified cluster. We derived cluster-specific polygenic scores and evaluated their association with clinical and neuropathological traits in an independently evaluated sample of individuals who met neuropathological and/or genetic criteria for FTLD-TDP or ALS (n = 260). We identified 5 distinct data-driven clusters, including 3 GWAS phenotype-specific clusters (FTLD-TDP, ALS, HS-Aging) and 2 clusters representing the overlap between a pair of GWAS phenotypes (ALS-FTLD and FTLD-HS). Pathway analysis revealed biologically meaningful associations including distinct GWAS phenotype-specific processes within clusters. Cluster-specific ALS and FTLD-TDP polygenic risk each associated with individual-level clinical traits, even within the context of autosomal dominant mutation carriers, where higher ALS polygenic risk associated with neuromuscular impairment and higher FTLD-TDP polygenic risk associated with cognitive-behavioral impairment. Moreover, higher FTLD-TDP polygenic risk associated with higher TDP-43 burden within characteristic FTLD-TDP brain regions. We suggest that there are polygenic modifiers of clinical and neuropathological traits across TDP-43 proteinopathies that may contribute to individual-level differences, including likelihood for developing FTLD or ALS.

  PublisherDOI

• Thalamic volume as a susceptibility/risk biomarker for <i>C9orf72</i> phenoconversion

  medRxiv · 2025-09-21

  preprintOpen access

  Abstract Background C9orf72 repeat expansions are the most frequent genetic risk factor of amyotrophic lateral sclerosis (ALS) and frontotemporal degeneration (FTD). With growing interest in the prospect of preventing clinically manifest disease, there is a pressing need to identify susceptibility/risk biomarkers that might predict the short-term risk of phenoconversion. This study sought to identify such neuroimaging biomarkers that predict the risk of ALS or FTD among unaffected C9orf72 carriers. Methods Our cohort comprised 4 groups of participants genotyped for C9orf72 repeat expansions, including 73 pre-symptomatic carriers, 8 phenoconverters, 49 affected carriers, and 99 non-carrier controls. Pre-symptomatic carriers remained unaffected throughout the follow-up period, while phenoconverters were those who transitioned from pre-symtpomatic to the clinically manifest phase during follow-up. Affected carriers were already diagnosed with ALS and/or FTD at baseline. All participants underwent an initial MRI scan, with a subset receiving follow-up MRI scans. Regional gray matter volumes were analyzed to assess initial differences across groups, to predict phenoconversion from a pre-symptomatic to clinically manifest state, and to explore progression over time. Results Group comparisons revealed an increasing extent and magnitude of reduced gray matter volume across the clinical continuum, from pre-symptomatic to clinically manifest stages, with phenoconverters who were imaged when pre-symptomatic and later developed clinically manifest disease intermediate between the two. The thalamus demonstrates the largest effect and the least variability across centers and MRI protocols. Thalamic volume is, on average, lower among pre-symptomatic carriers than non-carrier controls, though with wide overlapping distributions. Phenoconverters exhibited thalamic volumes in the range of affected carriers, both before and after phenoconversion. Mean thalamic volume discriminated between phenoconverters and carriers who remained pre-symptomatic during follow-up with an area under the curve of 0.854 (p&lt;0.001), and time-to-phenoconversion analysis demonstrated that individuals with a lower baseline thalamic volume had an increased hazard for phenoconversion (HR=17.6; CI=2.2-143.3; p&lt;0.001). Other regions, including the amygdala, somatomotor cortex, postcentral gyrus, and parietal cortex, demonstrated less consistent signals across centers and MRI protocols, but generally followed trends similar to the thalamus. Longitudinal observations further indicated that these regions, particularly the thalamus, demonstrated consistent downward trajectories over time, with more rapid atrophy observed in phenoconverters and affected carriers. Conclusions Lower thalamic volume is a promising susceptibility/risk biomarker predicting phenoconversion to clinically manifest ALS or FTD among clinically unaffected C9orf72 repeat expansion carriers, with potential utility to aid the design and implementation of early intervention and preventative clinical trials.

  PublisherOA PDFDOI

• Cumulative incidence of motor and cognitive features in the amyotrophic lateral sclerosis—frontotemporal degeneration spectrum

  Brain Communications · 2025-01-01

  articleOpen access

  Abstract In frontotemporal degeneration and amyotrophic lateral sclerosis, subsequent motor or cognitive-behavioural features, respectively, are associated with shorter survival. However, factors influencing subsequent feature development remain largely unexplored. In this study, we examined whether the presence of a C9orf72 expansion or the initial clinical syndrome was associated with increased risk of subsequent feature development in individuals with amyotrophic lateral sclerosis and frontotemporal degeneration. We performed a retrospective evaluation of the entire disease course of individuals with an initial clinical syndrome of amyotrophic lateral sclerosis or frontotemporal degeneration who had neuropathological confirmation of TDP-43 proteinopathy at autopsy or a C9orf72 hexanucleotide repeat expansion. We examined the odds and hazard of subsequent feature development and assessed whether each was modified by the presence of a C9orf72 expansion or initial clinical syndrome. At autopsy, we evaluated the association between TDP-43 pathology burden in characteristic brain regions and features across this disease spectrum. For individuals with amyotrophic lateral sclerosis (n = 168) and frontotemporal degeneration (n = 73), binary logistic regression revealed increased odds (odds ratio = 3.49 [95% confidence interval 1.64–7.80], P = 0.002) and Cox proportional hazard analyses revealed an increased hazard (hazard ratio = 3.78 [95% confidence interval 1.86–7.65], P &amp;lt; 0.001) for developing subsequent features in those with a C9orf72 expansion compared to those without. Beyond C9orf72 expansion status, binary logistic regression revealed decreased odds (odds ratio = 0.25 [95% confidence interval 0.12–0.53], P &amp;lt; 0.001) and Cox proportional hazard analyses revealed a decreased hazard (hazard ratio = 0.48 [95% confidence interval 0.25–0.95], P = 0.03) for developing subsequent features in those with an initial amyotrophic lateral sclerosis clinical syndrome compared to those with an initial frontotemporal degeneration clinical syndrome. We observed a 94-month difference in the time after symptom onset of the initial clinical syndrome that a given person without a C9orf72 expansion reached the highest probability of developing subsequent features (0.12 [95% CI 0.03–0.19], 113.00 months) and a person with a C9orf72 expansion surpassed that probability (0.13 [95% CI 0.06–0.19], 19.00 months). The distribution of TDP-43 pathology across characteristic brain regions reflected both the initial clinical syndrome and subsequent features, with relatively preserved spinal cord only in frontotemporal degeneration cases without subsequent motor features (P &amp;lt; 0.0001) and relatively preserved neocortical regions only in amyotrophic lateral sclerosis cases without subsequent cognitive-behavioural features (P &amp;lt; 0.0001). These data highlight the need for clinician vigilance to detect the onset of subsequent motor and cognitive-behavioural features in patients carrying a C9orf72 expansion, regardless of initial clinical syndrome. C9orf72 clinical care can be enhanced through coordination between cognitive and neuromuscular clinics.

  PublisherOA PDFDOI

• CNM-Au8 in Amyotrophic Lateral Sclerosis

  JAMA · 2025-02-17 · 11 citations

  letterOpen access

  Importance: Bioenergetic failure has been proposed as a driver of amyotrophic lateral sclerosis (ALS). CNM-Au8 is a suspension of gold nanocrystals that catalyzes the conversion of nicotinamide adenine dinucleotide hydride into NAD+, resulting in an increase of cellular adenosine triphosphate production. Objective: To determine the effects of CNM-Au8 on ALS disease progression. Design, Setting, and Participants: CNM-Au8 was tested as a regimen of the HEALEY ALS Platform Trial, a phase 2/3, multicenter, randomized, double-blind platform trial. The study was conducted at 54 sites in the US from July 2020 to March 2022 (final follow-up, March 17, 2022). A total of 161 participants with ALS were randomized to receive CNM-Au8 (n = 120) or regimen-specific placebo (n = 41). Data from 123 concurrently randomized placebo participants in other regimens were combined for analyses. Interventions: Eligible participants were randomized in a 3:3:2 ratio to receive CNM-Au8 60 mg daily (n = 61), CNM-Au8 30 mg daily (n = 59), or matching placebo (n = 41) for 24 weeks. Main Outcomes and Measures: The primary efficacy outcome was change from baseline through week 24 in ALS disease severity measured by a bayesian shared parameter model of function (based on the Revised Amyotrophic Lateral Sclerosis Functional Rating Scale) and survival, which provided an estimate of the rate of disease progression measured by the disease rate ratio (DRR), with a DRR of less than 1 indicating treatment benefit. Secondary end points included a Combined Assessment of Function and Survival using a joint-rank test, rate of decline in slow vital capacity (percent predicted), and survival free of permanent assisted ventilation. Results: Among 161 participants who were randomized within the CNM-Au8 regimen (mean age, 58.4 years; 61 [37.9%] female), 145 (90%) completed the trial. In the primary analysis comparing the combined CNM-Au8 dosage groups vs the combined placebo groups, the primary end point (DRR, 0.97 [95% credible interval, 0.783-1.175]; posterior probability of DRR <1, 0.65) and the 3 secondary end points suggested no benefit or harm of CNM-Au8. In the active (n = 120) vs placebo (n = 163) groups, the most common adverse events were diarrhea (23 [19%] vs 12 [7%]), nausea (17 [14.2%] vs 14 [8.6%]), fatigue (12 [10.8%] vs 30 [18.4%]), and muscular weakness (24 [20%] vs 45 [27.6%]). Conclusions and Relevance: No benefit of CNM-Au8 on ALS disease progression was observed at 24 weeks. Trial Registration: ClinicalTrials.gov Identifiers: NCT04297683, NCT04414345.

  PublisherOA PDFDOI

• A single ALS center experience with clinical use of sodium phenylbutyrate‐taurursodiol

  Muscle & Nerve · 2024-04-26 · 3 citations

  articleOpen access

  INTRODUCTION/AIMS: The aim of this study was to examine clinical utilization and discontinuation rates of sodium phenylbutyrate-taurursodiol (PB-TURSO) in a single Amyotrophic Lateral Sclerosis (ALS) center. PB-TURSO was approved by the United States Food and Drug Administration (FDA) in September 2022. Prior experience has been limited to clinical trials or expanded access protocols. In this manuscript, we discuss insurance approval rates, patient uptake, and discontinuation of PB-TURSO in a large academic center. METHODS: Records of patients seen for clinical visits between January 2022 and May 2023 were reviewed. Demographic and clinical characteristics of our clinic population and those initiating PB-TURSO were obtained from our clinical database. RESULTS: A total of 228 patients were seen during the observation period and 122 requested PB-TURSO prescriptions. 77% (94) were approved by insurance. 66% (65) of those who were approved or received free drug chose to start medication. 51% (34) of those who initiated PB-TURSO continued to take it through the end of the observation period. Four patients discontinued due to death during the observation period. Of the 29 patients who survived and discontinued, the main reasons for discontinuation were GI symptoms (17, 58.6%) and taste (8, 29.6%). DISCUSSION: PB-TURSO was approved by insurance for most patients. The discontinuation rate was high and was driven largely by GI side effects and taste. Future considerations would include deeper examination of demographic trends, patient costs, side effects, and potential benefits in clinical practice.

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• Cognitive reserve in ALS: the role of occupational skills and requirements

  Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration · 2024 · 6 citations

  • Physical medicine and rehabilitation
  • Psychology
  • Neuroscience

  OBJECTIVE: Amyotrophic Lateral Sclerosis (ALS) is a heterogeneous neurodegenerative condition featuring variable degrees of motor and cognitive impairment. We assessed the impact of specific, empirically derived occupational skills and requirements on cognitive and motor functioning in ALS. METHODS: Individuals with ALS (n = 150) were recruited from the University of Pennsylvania's Comprehensive ALS Clinic. The Edinburgh Cognitive and Behavioral ALS Screen (ECAS) measured cognition, and the Penn Upper Motor Neuron (PUMNS) and ALS Functional Rating Scales (ALSFRS-R) measured motor symptoms. We derived 17 factors representing distinct occupational skills and requirements from the Occupational Information Network (O*NET), which were related to cognitive and motor scores using multiple linear regression. RESULTS: < .05) were associated with greater motor dysfunction on the PUMNS. CONCLUSIONS: Occupational histories involving more cognitively complex skills and activities were related to preserved cognitive functioning in ALS consistent with the cognitive reserve hypothesis, while jobs with greater exposure to environmental hazards and technical demands were linked to poorer cognitive functioning. Jobs involving more repetitive movements were associated with worse motor functioning, possibly due to overuse. Occupational history provides insight into protective and risk factors for variable degrees of cognitive and motor dysfunction in ALS.

  PublisherOA PDFDOI

• Cumulative Incidence of Motor and Cognitive Features in the ALS-FTD Spectrum

  medRxiv · 2024-05-01

  preprintOpen access

  Abstract In frontotemporal degeneration (FTD) and amyotrophic lateral sclerosis (ALS), subsequent motor or cognitive-behavioral features, respectively, are associated with shorter survival. However, factors influencing subsequent feature development remain largely unexplored. In this study, we examined whether the presence of a C9orf72 expansion or the initial clinical syndrome was associated with increased risk of subsequent feature development in individuals with ALS and FTD. We performed a retrospective evaluation of the entire disease course of individuals with ALS and FTD who had neuropathological confirmation of TDP-43 proteinopathy at autopsy or a C9orf72 hexanucleotide repeat expansion. We examined the odds and hazard of subsequent feature development and assessed whether each was modified by the presence of a C9orf72 expansion or initial clinical syndrome. At autopsy, we evaluated the association between TDP-43 pathology burden in characteristic brain regions and features across the FTD-ALS spectrum. For individuals with ALS (n=168) and FTD (n=73), binary logistic regression revealed increased odds (OR=3.49[95% CI 1.64-7.80], p=0.002) for developing subsequent features in those with a C9orf72 expansion compared to those without and decreased odds (OR=0.25[95% CI 0.12-0.53], p&lt;0.001) for developing subsequent features in those with an initial ALS clinical syndrome compared to those with an initial FTD clinical syndrome. Cox proportional hazard analyses revealed an increased hazard (HR=3.78[95% CI 1.86-7.65], p&lt;0.001) for developing subsequent features in those with a C9orf72 expansion compared to those without. We observed a 94-month difference in the time after symptom onset of the initial clinical syndrome that a given person without a C9orf72 expansion reached the highest probability of developing subsequent features (0.12[95% CI (0.03-0.19], 113.00 months) and a person with a C9orf72 expansion surpassed that probability (0.13[95% CI 0.06-0.19], 19.00 months). Beyond C9orf72 expansion status, cox proportional hazard analyses revealed a decreased hazard (HR=0.48[95% CI 0.25-0.95], p=0.03) for developing subsequent features in those with an initial ALS clinical syndrome compared to those with an initial FTD clinical syndrome. Age at symptom onset and sex were not associated with development of subsequent features. The distribution of TDP-43 pathology across characteristic brain regions reflected both the initial clinical syndrome and subsequent features, with relatively preserved spinal cord only in FTD cases without subsequent motor features (p&lt;0.0001) and relatively preserved neocortical regions only in ALS cases without subsequent cognitive-behavioral features (p&lt;0.0001). These data highlight the need for clinician vigilance to detect the onset of subsequent motor and cognitive-behavioral features in patients carrying a C9orf72 expansion, regardless of initial clinical syndrome. C9orf72 clinical care can be enhanced through coordination between cognitive and neuromuscular clinics. Abbreviated Summary Spencer et al. demonstrated both the presence of a C9orf72 expansion and the initial clinical syndrome modify risk of subsequent feature development in frontotemporal degeneration and amyotrophic lateral sclerosis, highlighting the need for clinician vigilance to detect the onset of subsequent motor and cognitive-behavioral features in this disease spectrum.

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Frequent coauthors

• Colin Quinn

  University of Pennsylvania

  17 shared

• Lauren Elman

  University of Pennsylvania

  17 shared

• Defne A. Amado

  University of Pennsylvania

  17 shared

• Corey T. McMillan

  University of Pennsylvania

  12 shared

• David J. Irwin

  University of Pennsylvania

  12 shared

• Murray Grossman

  9 shared

• Lauren Massimo

  8 shared

• Edward B. Lee

  6 shared

Labs

• Michael Baer LabPI