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Related Experiment Video

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An In Vitro Model for the Study of Cellular Pathophysiology in Globoid Cell Leukodystrophy
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A hypomyelinating leukodystrophy in German Shepherd dogs.

Pia R Quitt1, Andreas Brühschwein1, Kaspar Matiasek2

  • 1Centre for Clinical Veterinary Medicine, Faculty of Veterinary Medicine, LMU Munich, Munich, Germany.

Journal of Veterinary Internal Medicine
|March 18, 2021
PubMed
Summary

A novel inherited hypomyelinating leukodystrophy causes shaking puppy syndrome in German Shepherds. Affected puppies exhibit tremors and ataxia, with magnetic resonance imaging revealing abnormal white matter signals.

Keywords:
animal modelbrain maturationdevelopmentdysmyelinationgenetichypomyelinationinheritedleukoencephalopathyseizurestremorwhite matter

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Area of Science:

  • Veterinary Neurology
  • Canine Genetics
  • Neuroimaging

Background:

  • Shaking puppy syndrome is often linked to central nervous system myelination abnormalities.
  • Hypomyelinating leukodystrophy is a rare neurological disorder affecting white matter development.

Purpose of the Study:

  • To document the long-term clinical progression and magnetic resonance imaging (MRI) findings of hypomyelinating leukodystrophy in German Shepherd dogs.
  • To investigate the potential inherited basis of this neurological condition.

Main Methods:

  • Clinical observation of 11 affected German Shepherd dogs from three related litters.
  • Longitudinal magnetic resonance imaging (MRI) studies of affected dogs.
  • Pathological examination of affected dogs.

Main Results:

  • Affected puppies displayed tremors, ataxia, and abnormal white matter signals on MRI, persisting into adulthood.
  • Tremors improved over time, but severe ataxia remained.
  • An autosomal recessive inheritance pattern was suspected due to familial relationships.

Conclusions:

  • A novel, likely inherited, hypomyelinating leukodystrophy is identified in German Shepherd dogs.
  • The study highlights the utility of MRI in diagnosing this condition.
  • This research contributes to understanding canine neurological disorders.