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Related Experiment Video

Updated: Jul 4, 2026

A Standardized Pipeline for Examining Human Cerebellar Grey Matter Morphometry using Structural Magnetic Resonance Imaging
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Bilateral pulvinar signal intensity decrease on T2-weighted images in patients with aspartylglucosaminuria.

T Autti1, T Lönnqvist, R Joensuu

  • 1Helsinki Medical Imaging Center, University of Helsinki, Helsinki, Finland.

Acta Radiologica (Stockholm, Sweden : 1987)
|June 24, 2008
PubMed
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Aspartylglucosaminuria (AGU) affects the thalamus, with decreased signal intensity visible on T2-weighted MRI from age 3.5. Pulvinar changes appear on T2-weighted images, potentially indicating early signs of lysosomal disease.

Area of Science:

  • Neuroimaging
  • Biochemistry
  • Genetics

Background:

  • Aspartylglucosaminuria (AGU) is an inherited metabolic disorder.
  • It results from a deficiency in the enzyme aspartylglucosaminidase.
  • Lysosomal diseases are often associated with changes in thalamic signal intensity on MRI.

Purpose of the Study:

  • To investigate thalamic signal intensity changes in patients with AGU.
  • To analyze magnetic resonance imaging (MRI) findings in AGU.
  • To correlate MRI findings with disease progression and treatment.

Main Methods:

  • Retrospective review of brain MRI studies from 11 AGU patients (ages 3-32).
  • Analysis of 25 MRI examinations using 1.0T and 1.5T imagers, including T1, T2, PD, and FLAIR sequences.

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  • Comparison of thalamic and pulvinar signal intensity with putaminal signal intensity.

    • Main Results:

    • Decreased thalamic signal intensity on T2-weighted MRI was observed in 21/24 AGU patients from age 3.5.
    • Slightly increased thalamic signal intensity on T1-weighted MRI was noted in 5/7 patients from age 7.
    • Pulvinar signal intensity decreased on T2-weighted and FLAIR images from age 6.5 in both transplanted and non-transplanted patients.

    Conclusions:

    • The thalamus is affected in AGU, with characteristic MRI signal changes.
    • Pulvinar alterations are visible on T2-weighted images and may be early indicators in lysosomal diseases.
    • MRI findings can help characterize the neurological impact of AGU.