Fucosidosis
Fucosidosis is a lysosomal storage disease primarily affecting springer spaniels resulting in progressive neuronal degeneration. Accumulation occurs due to a defect in lysosomal enzyme alpha-fucosidase.
Age of Onset: 2-3 years of age
Sex Predisposition: Any sex of animal can be affected
Clinical Course:
At onset of disease, animals experience behavioral changes, which progresses over the course of several months to worsening mental deterioration and a reduction in responsiveness to their environment. Gait defecits are noted later in the disease process. Clinical signs progress over the course of several months to years ultimately culminating in death by 3-4 years of age.
At onset of disease, animals experience behavioral changes, which progresses over the course of several months to worsening mental deterioration and a reduction in responsiveness to their environment. Gait defecits are noted later in the disease process. Clinical signs progress over the course of several months to years ultimately culminating in death by 3-4 years of age.
Clinical Signs:
Behavioral/Mental Awareness
Anxiousness
Apprehension
Slow to learn
Dullness
Loss of learned behavior
Compulsive movement
Posture and Appearance
Enlargement of peripheral and cranial nerves may be palpable
Extended posture
Wide-based stance
Movement
Ataxia
Hypermetria
Head tremor
Proprioception
General proprioceptive deficits
Cranial Nerves
Resting nystagmus
Jaw champing
Deaf and aphonic
Pupillary light reflex deficit
Positional nystagmus
Mydriasis
Spinal Reflexes
Spasticity
Special functions (e.g. respiration; urination)
Dysphagia
Dyspnea
Hypersalivation
Muscle Atrophy
Temporal muscle atrophy
Pain Sensation
Hyperesthesia
Behavioral/Mental Awareness
Anxiousness
Apprehension
Slow to learn
Dullness
Loss of learned behavior
Compulsive movement
Posture and Appearance
Enlargement of peripheral and cranial nerves may be palpable
Extended posture
Wide-based stance
Movement
Ataxia
Hypermetria
Head tremor
Proprioception
General proprioceptive deficits
Cranial Nerves
Resting nystagmus
Jaw champing
Deaf and aphonic
Pupillary light reflex deficit
Positional nystagmus
Mydriasis
Spinal Reflexes
Spasticity
Special functions (e.g. respiration; urination)
Dysphagia
Dyspnea
Hypersalivation
Muscle Atrophy
Temporal muscle atrophy
Pain Sensation
Hyperesthesia
Diffuse central and peripheral nervous system
Autosomal recessive inheritance of a mutation of the FUCA1 gene in English Springer Spaniel, but overall frequency within the population is unknown.
For breed specific genetic tests, follow the links below:
netapps.vet.upenn.edu/PennGen/SampleTesting/GeneticsTest.aspx?testid=14
www.cagt.co.uk/product/fucosidosis/
https://www.genomia.cz/en/test/fucosidosis/
https://embarkvet.com/products/dog-health/health-conditions/canine-fucosidosis/
For breed specific genetic tests, follow the links below:
netapps.vet.upenn.edu/PennGen/SampleTesting/GeneticsTest.aspx?testid=14
www.cagt.co.uk/product/fucosidosis/
https://www.genomia.cz/en/test/fucosidosis/
https://embarkvet.com/products/dog-health/health-conditions/canine-fucosidosis/
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