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Globoid Cell Leukodystrophy (Krabbe's Disease)
  • Description
  • Signalment
  • Clinical Features
  • Neurolocalization
  • Genetics
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Globoid cell leukodystrophy is a storage disease caused by a deficiency in the enzyme beta-galactocerebrosidase. This deficiency leads to the accumulation of galactocerebrosides within white matter leading to a progressive neurodegeneration.
Age of Onset: 3-7 months of age
Sex Predisposition: Any sex of animal can be affected
Clinical Course:
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Clinical signs progress from paresis to paralysis over the course of 2-3 months. Commonly, signs first begin in the thoracolumbar spinal cord and progress to cervical spinal and cerebellar signs. However, cerebellar signs may precede spinal signs.
Clinical Signs:
Behavioral/Mental Awareness
Dementia

Movement
Ataxia
Tremors
Pelvic limb weakness/paresis

Cranial Nerves
Blindness

Spinal Reflexes
Decreased spinal reflexes

Special Functions (e.g. respiration; urination)
Incontinence

Muscle Atrophy
Muscular atrophy​
Diffuse central nervous system disease
Autosomal recessive mutation in galactosylceramidase 1 (beta-galactocerebrosidase)
To read more about this disease click below:
References
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