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Updated: Oct 19, 2025
Low-Cost Gait Analysis for Behavioral Phenotyping of Mouse Models of Neuromuscular Disease
Published on: July 18, 2019
Gait phenotype in Batten disease: A marker of disease progression
1Centre for Rare Diseases, Department of Children & Youth, Aarhus University Hospital, Palle Juul-Jensens Boulevard 99, DK-8200, Aarhus N, Denmark.
Insights
Gait problems in Batten disease vary by subtype, reflecting specific neurological damage over time. This progressive gait impairment is a key indicator of disease progression in children.
Area of Science:
- Neurology
- Pediatric Neurological Disorders
- Movement Disorders
Background:
- Gait impairment in Batten disease has been under-investigated.
- Understanding gait phenotypes is crucial for Batten disease management.
Purpose of the Study:
- To review the gait phenotype across different Batten disease subtypes.
- To correlate gait changes with underlying neuropathology.
Main Methods:
- Literature review of clinical presentations.
- Analysis of reported neuropathological findings.
- Correlation of gait abnormalities with disease progression.
Main Results:
- CLN1: Non-rhythmic gait, hypotonia, hyperreflexia, progressing to immobility; linked to spinal interneurons, cortex, and corticospinal tracts.
- CLN2: Clumsy, ataxic, spastic gait; associated with cerebellar and corticospinal pathway involvement.
- CLN3: Reduced walking speed, white matter changes, basal ganglia dysfunction (parkinsonian gait), peripheral nerve involvement, and muscle atrophy.
Conclusions:
- Gait impairment in Batten disease is progressive and subtype-specific.
- The timing of neurological damage dictates the gait phenotype.
- Gait function serves as a significant marker for disease progression.
Background:
Gait impairment and its etiologic correlate has not previously been subject of special attention in Batten disease.
Methods:
In the present review, the clinical picture of gait phenotype during Batten disease course accompanied by descriptions of the known concomitant patho-anatomical changes is presented.
Results:
In CLN1 a non-rhythmic gait is seen around 1-1½ years of age. Shortly after, postural hypotonia and exaggerated tendon reflexes develop. The disease reaches a burnt-out stage during the third year of age and subsequently the children are almost without voluntary movements. The existing literature indicates that gait phenotype in CLN1 is caused by early involvement of the spinal interneurons followed by impact of the cortex and the cortico-spinal tracts. The earliest walking abnormality in children with CLN2 is a clumsy, ataxic, and spastic gait, which is in accordance with the existing imaging and histologic studies showing early involvement of the cerebellum and the cortico-spinal pathways. In CLN3, a reduction in walking speed is present at the age of 7-8 years. It occurs simultaneously with a reduction in the white matter microstructure and brain connectivity networks. Functional impairment of the basal ganglia contributing to a parkinsonian gait phenotype occurs in the mid-teens. In the late teens and early twenties involvement of the peripheral nerves, neurogenic musculoskeletal atrophy, loss of tendon reflexes and postural control are seen.
Conclusion:
The progressively impaired gait function in Batten disease is related to timing of damage of distinct areas of the nervous system depending on subtype and is a powerful marker of disease progression.
