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Low-Cost Gait Analysis for Behavioral Phenotyping of Mouse Models of Neuromuscular Disease

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Previously unrecognized behavioral phenotype in Gaucher disease type 3.

Magy Abdelwahab¹, Michael Potegal¹, Elsa G Shapiro¹

¹Department of Pediatric Hematology (M.A.), Cairo University Pediatric Hospital, Egypt; and Program in Occupational Therapy (M.P.), and Division of Clinical Behavioral Neuroscience (E.G.S., I.N.), Department of Pediatrics, University of Minnesota, Minneapolis.

Neurology. Genetics

|June 22, 2017

Summary

Patients with Gaucher disease type 3 (GD3) exhibit unique behavioral issues, primarily excessive anger and aggression. These behaviors correlate with IQ, potentially serving as markers for neurologic disease progression.

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Area of Science:

Neuroscience
Genetics
Behavioral Science

Background:

Gaucher disease type 3 (GD3) is a rare genetic disorder with significant neurological manifestations.
Abnormal behaviors are frequently observed in GD3 patients, but their specific patterns and correlations are not fully understood.

Purpose of the Study:

To comprehensively describe abnormal behaviors in GD3 patients.
To investigate the relationship between these behaviors and demographic, neurodevelopmental, and neurological characteristics.

Main Methods:

Thirty-four Egyptian GD3 patients were evaluated using parent/physician reports and video recordings.
Behaviors were categorized into Crying/Withdrawal, Impatience/Overactivity, Anger/Aggression, and Repetitive Acts.
Neurologic evaluations included IQ assessment, EEG, and assessments for specific neurological signs over 3-10 years.

Main Results:

High prevalence of supranuclear gaze palsy (97.1%) and bulbar symptoms (50%).
Excessive anger (88.2%) and aggression (64.7%) were the most prominent behavioral features, more common in males.
Anger/Aggression scores strongly correlated with IQ, but not with seizure status or other neurologic signs.

Conclusions:

GD3 patients exhibit a distinct behavioral profile characterized by excessive anger and aggression.
Quantitative behavioral scoring may serve as a valuable marker for assessing neurologic disease progression and severity in GD3.