Related Experiment Video
Updated: Dec 13, 2025
A Simple Approach to Induce Experimental Autoimmune Neuritis in C57BL/6 Mice for Functional and Neuropathological Assessments
Published on: November 9, 2017
Long-term outcome of Miniature Schnauzers with genetically confirmed demyelinating polyneuropathy: 12 cases
Alba Farré Mariné1, Nicolas Granger2,3, Coralie Bertolani4
1Aúna Especialidades Veterinarias, Valencia, Spain.
Background:
A demyelinating polyneuropathy with focally folded myelin sheaths was reported in 3 Miniature Schnauzers in France in 2008 and was predicted to represent a naturally occurring canine homologue of Charcot-Marie-Tooth (CMT) disease. A genetic variant of MTRM13/SBF2 has been identified as causative in affected Miniature Schnauzers with this polyneuropathy.
Objective:
To provide data on the long-term progression in affected Miniature Schnauzers from Spain confirmed with the MTRM13/SBF2 genetic variant.
Animals:
Twelve Miniature Schnauzers presented between March 2013 and June 2019.
Methods:
Only dogs presented with consistent clinical signs and homozygous for the MTRM13/SBF2 genetic variant were included. Clinical signs, age of onset and presentation, time from onset to presentation, treatment, outcome, and time from diagnosis to final follow-up were retrospectively reviewed.
Results:
The hallmark clinical signs at the time of presentation were regurgitation with radiologically confirmed megaesophagus (11/12) and aphonic bark (11/12) with or without obvious neuromuscular weakness despite electrodiagnostic evidence of appendicular demyelinating polyneuropathy. Age of onset and clinical presentation were 3-18 and 4-96 months, respectively. Treatment was mostly symptomatic and consisted of head elevation during meals, antacids, prokinetics, bethanechol, sildenafil, mirtazapine, or some combination of these. During the follow-up period (7-73 months), clinical signs were unchanged in (11/12) cases with aspiration pneumonia developing occasionally (6/12) and being the cause of death in 1 dog.
Conclusions And Clinical Importance:
Demyelinating polyneuropathy of Miniature Schnauzers tends to remain stable over the long term leading to a good prognosis with preventive feeding measures and symptomatic treatment to control aspiration pneumonia.
Insights
This study shows that demyelinating polyneuropathy in Miniature Schnauzers with the MTRM13/SBF2 genetic variant is typically stable long-term. Affected dogs have a good prognosis with supportive care for megaesophagus and aspiration pneumonia.
Area of Science:
- Veterinary Neurology
- Canine Genetics
- Demyelinating Diseases
Background:
- A demyelinating polyneuropathy, a potential canine model for Charcot-Marie-Tooth disease, was previously identified in Miniature Schnauzers.
- A specific MTRM13/SBF2 genetic variant has been identified as the cause of this condition.
Purpose of the Study:
- To investigate the long-term clinical progression of demyelinating polyneuropathy in Spanish Miniature Schnauzers.
- To confirm the association with the MTRM13/SBF2 genetic variant in this cohort.
Main Methods:
- Retrospective review of 12 Miniature Schnauzers with confirmed MTRM13/SBF2 variant.
- Analysis of clinical signs, age of onset, treatment, and long-term outcome.
Main Results:
- Hallmark signs included megaesophagus and aphonic bark, with or without neuromuscular weakness.
- Most dogs showed stable clinical signs over 7-73 months.
- Aspiration pneumonia occurred in some cases, leading to one fatality.
Conclusions:
- Canine demyelinating polyneuropathy associated with the MTRM13/SBF2 variant exhibits long-term stability.
- Prognosis is favorable with symptomatic treatment and preventive feeding strategies.
- Management focuses on controlling megaesophagus and preventing aspiration pneumonia.
