Globoid Cell Leukodystrophy (Krabbe's Disease/Galactocerebrosidosis)
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:
Clinical signs progress over several 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 progress over several 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
Hypermetria/dysmetria
Proprioception
Proprioceptive deficits
Cranial Nerves
Blindness
Spinal Reflexes
Decreased spinal reflexes
Reduced muscle tone
Abnormal crossed-extensor reflex of the pelvic limbs
Behavioral/Mental Awareness
Dementia
Movement
Ataxia
Tremors
Pelvic limb weakness/paresis
Hypermetria/dysmetria
Proprioception
Proprioceptive deficits
Cranial Nerves
Blindness
Spinal Reflexes
Decreased spinal reflexes
Reduced muscle tone
Abnormal crossed-extensor reflex of the pelvic limbs
Diffuse central nervous system disease
Autosomal recessive mutation in galactosylceramidase 1 (beta-galactocerebrosidase)
To read more about this disease click below:
