ISSN 2398-2969      

Juvenile laryngeal paralysis and polyneuropathy

icanis

Synonym(s): Laryngeal paralysis-polyneuropathy complex, congenital laryngeal paralysis, JLPP


Introduction

  • Cause: genetic disease (confirmed or suspected), autosomal recessive trait.
  • Signs: exercise intolerance, laryngeal stridor, dysphonia, dyspnea, conscious proprioceptive deficits, distal weakness and collapse.
  • Diagnosis: electrophysiology, muscle and nerve biopsy, DNA testing.
  • Treatment: none other than supportive and symptomatic surgical correction of laryngeal paralysis (‘tie-back’).
  • Prognosis: poor.

Pathogenesis

Etiology

  • Inherited autosomal recessive disease in Black Russian terrier, Rottweiler and Alaskan Husky dogs.
  • Previously described as a juvenile onset laryngeal paralysis and polyneuropathy similar to Charcot Marie Tooth disease in humans; original description in Dalmatians (1994) and Rottweilers (1998).
  • Recently identified in Black Russian terrier and Alaskan Husky dogs as a model for Warburg micro syndrome (WARBM) which is a severe developmental disorder characterized by abnormalities of the eye, genitals and nervous system including predominantly axonal peripheral neuropathy but also a spongiform encephalopathy.
  • Mutation in the Warburg syndrome gene, RAB3GAP1, identified in Black Russian terrier, Rottweiler and Alaskan Husky dogs.
  • Heterozygotes have no clinical signs.

Pathophysiology

  • Distal denervating process with selective degeneration of the distal long and large diameter axons.
  • RAB3GAP1 encodes the catalytic subunit of a GTPase activator protein and guanine exchange factor for Rab3 and Rab18 respectively.
  • Rab protein are involved in membrane trafficking in the endoplasmic reticulum, axonal transport, autophagy and synaptic transmission → neuronal vacuolation and membranous inclusion.

Timecourse

  • Most affected dogs die or are euthanized at the owners' request due to progressive weakness and/or respiratory distress by 6 months of age.

Diagnosis

This article is available in full to registered subscribers

Sign up now to obtain ten tokens to view any ten Vetlexicon articles, images, sounds or videos, or Login

Treatment

This article is available in full to registered subscribers

Sign up now to obtain ten tokens to view any ten Vetlexicon articles, images, sounds or videos, or Login

Prevention

This article is available in full to registered subscribers

Sign up now to obtain ten tokens to view any ten Vetlexicon articles, images, sounds or videos, or Login

Outcomes

This article is available in full to registered subscribers

Sign up now to obtain ten tokens to view any ten Vetlexicon articles, images, sounds or videos, or Login

Further Reading

Publications

Refereed Papers

  • Recent references from PubMed and VetMedResource.
  • Mhlanga-Mutangadura T, Johnson G S, Schnabel R D, Taylor J F, Johnson G C, Katz M L, Shelton G D, Lever T E, Giuliano E, Granger N, Shomper J, O'Brien D P (2016) A mutation in the Warburg syndrome gene, RAB3GAP1, causes a similar syndrome with polyneuropathy and neuronal vacuolation in Black Russian Terrier dogs. Neurobiol Dis 86, 75-85 PubMed.
  • Mhlanga-Mutangadura T, Johnson G S, Ashwini A, Shelton G D, Wennogle S A, Johnson G C, Kuroki K, O'Brien D P (2016) A Homozygous RAB3GAP1:c.743delC Mutation in Rottweilers with Neuronal Vacuolation and Spinocerebellar Degeneration. J Vet Intern Med 30 (3), 813-818 PubMed.
  • Wiedmer M, Oevermann A, Borer-Germann S E, Gorgas D, Shelton GD, Drögemüller M, Jagannathan V, Henke D, Leeb T (2015) A RAB3GAP1 SINE Insertion in Alaskan Huskies with Polyneuropathy, Ocular Abnormalities, and Neuronal Vacuolation (POANV) Resembling Human Warburg Micro Syndrome 1 (WARBM1). G3 (Bethesda) (2), 255-262 PubMed.
  • Granger N (2011) Canine inherited motor and sensory neuropathies: an updated classification in 22 breeds and comparison to Charcot-Marie-Tooth. Vet J 188, 274-285 PubMed.
  • Gabriel A, Poncelet L, Van Ham L, Clercx C, Braund KG, Bhatti S, Detilleux J, Peeters D (2006) Laryngeal paralysis-polyneuropathy complex in young related Pyrenean mountain dogs.
     J Small Anim Pract 47 (3),144-1449 PubMed.
  • Polizopoulou Z S, Koutinas A F, Papadopoulos G C, Saridomichelakis M N (2003) Juvenile laryngeal paralysis in three Siberian husky x Alaskan malamute puppies. Vet Rec 153 (20), 624-627 PubMed.
  • Ridyard A E, Corcoran B M, Tasker S, Willis R, Welsh E M, Demetriou J L, Griffiths L G (2000) Spontaneous laryngeal paralysis in four white-coated German shepherd dogsJ Small Anim Pract 41 (12), 558-561 PubMed.
  • Mahony O M, Knowles K E, Braund K G, Averill D R Jr, Frimberger A E (1998) Laryngeal paralysis-polyneuropathy complex in young RottweilersJ Vet Intern Med 12 (5), 330-337 PubMed.
  • Braund K G, Shores A, Cochrane S, Forrester D, Kwiecien J M, Steiss J E (1994) Laryngeal paralysis-polyneuropathy complex in young DalmatiansAm J Vet Res 55 (4), 534-542 PubMed.
  • O'Brien J A, Hendriks J (1986) Inherited laryngeal paralysis. Analysis in the husky cross. Vet Q (4), 301-302 PubMed
  • Venker van Haagen A J, Hartman W,  Goedegebuure S A (1978) Spontaneous laryngeal paralysis in young Bouviers. JAAHA 14 (6), 714-720 VetMedResource.

Other sources of information

Can’t find what you’re looking for?

We have an ever growing content library on Vetlexicon so if you ever find we haven't covered something that you need please fill in the form below and let us know!

 
 
 
 

To show you are not a Bot please can you enter the number showing adjacent to this field

 Security code