Histopathologic Changes of the Ear in Canine Models of Mucopolysaccharidosis Types I and VII

Hordeaux, Juliette; Deniaud, Johan; Bemelmans, Ingrid; Bertrand, L; Moreau, S.; Amiaud, J.; Wyers, Monique; Chérel, Yan; Colle, M.A.

doi:10.1177/0300985810384413

Cited by 5 publications

(6 citation statements)

References 23 publications

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“…The flattened face and wide‐spaced eyes are the typical features of this class of disease (Macri and others 2002, Hordeaux and others 2011), but the lower motor neurone signs have not been reported in cats previously. A recent study in a mouse model of MPS IIIB strongly supports the hypothesis that the peripheral nervous system (PNS) neuropathology is widespread, and that the neurological disease is likely to be a consequence due to both the CNS and PNS neuropathology (Fu and others 2012).…”

Section: Discussionmentioning

confidence: 98%

“…MPS are lysosomal storage diseases in human beings and domestic animals generally inherited by an autosomal recessive trait (Skelly and Franklin 2002, Hordeaux and others 2011). MPS have been described in cats (Coates and Kline 1995, Crawley and others 1998, Schultheiss and others 2000, Macri and others 2002, Crawley and others 2003, Hordeaux and others 2011), dogs (Coates and Kline 1995, Haskins and Giger 1997, Ray and others 1998, Wilkerson and others 1998, Jolly and others 2001, Ellinwood and others 2003, Dombrowski and others 2004, Jolly and others 2007, Hordeaux and others 2011), rats (Yoshida and others 1993a, b), mice (Birkenmeier and others 1989, Clarke and others 1997, Tomatsu and others 2005), goats (Thompson and others 1992) and emus (Aronovich and others 2001) (Tables 1 and 2). Affected animals are normal at birth but they then have progressive growth abnormalities and generally exhibit neurologic abnormalities, skeletal abnormalities, or both (Crawley and others 1998, Jolly and others 2001, Crawley and others 2003).…”

Section: Case Presentationmentioning

confidence: 99%

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Magnetic resonance findings in a domestic short‐hair cat with presumptive mucopolysaccharidosis

Fernandes¹,

Cherubini²,

Caine³

et al. 2013

Vet Record Case Reports

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Mucopolysaccharidosis (MPS) are lysosomal storage diseases of humans and domestic animals generally inherited by an autosomal recessive trait. Affected animals are normal at birth but they then have progressive growth abnormalities and generally exhibit neurologic abnormalities. An 18-month-old female, neutered, domestic, short-hair cat presented for evaluation of progressive pelvic limb ataxia, generalised weakness and spinal hyperaesthesia. The result of a toluidine spot test indicated the presence of glycosaminoglycans in the urine. This result is strongly suggestive of MPS. The magnetic resonance abnormalities found are very similar to the abnormalities described in human medicine. This is the first case report where magnetic resonance findings in a patient with MPS are described in veterinary medicine.

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Section: Discussionmentioning

confidence: 98%

Section: Case Presentationmentioning

confidence: 99%

Magnetic resonance findings in a domestic short‐hair cat with presumptive mucopolysaccharidosis

Fernandes¹,

Cherubini²,

Caine³

et al. 2013

Vet Record Case Reports

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“…Animal studies on the histopathological changes of the inner ear show similar results. 28,29 Of note, these studies were performed in untreated patients and animals. It is unknown to what extent HCT alters these changes in the inner ears of patients.…”

Section: Discussionmentioning

confidence: 99%

Hearing loss in patients with mucopolysaccharidoses‐1 and ‐6 after hematopoietic cell transplantation: A longitudinal analysis

Broek

Smit

Boelens

et al. 2020

J of Inher Metab Disea

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Hearing loss is frequently seen in mucopolysaccharidoses (MPS) patients. Although hematopoietic cell transplantation (HCT) increases overall survival, disease progression is observed in certain tissues. This study describes the course of hearing loss (HL) over time in transplanted MPS patients. Transplanted MPS patients between 2003 and 2018 were included and received yearly audiological evaluation, including auditory brainstem response (ABR) or pure tone audiometry (PTA). Twenty-eight MPS-1 and four MPS-6 patients were analyzed with a median follow-up of 5 years (range 11 months-16 years). Air conduction threshold improved significantly over time (P < .001) with a PTA 1-year post-HCT of 50 ± 0.7 dB to 23 ± 11 dB 13 years post-HCT. Bone conduction threshold worsened with a PTA 1 year post-HCT of 10 ± 7 dB to 18 ± 9 dB 13 years post-HCT (P = .34). The degree of HL varied from mainly mild-severe early after HCT to normal-mild at longer follow-up. The type of HL consisted of mainly conductive in the first years post-HCT in contrast to mainly sensorineural at longer follow-up. MRIs of the cerebellopontine angle did not show abnormalities. HL is still seen in patients with MPS despite HCT and consists of a conductive type early after HCT in contrast to a sensorineural type at longer follow-up in the majority of cases. Yearly follow-up of HL is necessary to timely intervene, as hearing is important in the speech and language development of children and their academic achievements.

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“…MPS I dogs show infiltration of GAG-laden macrophages causing thickened tympanic membranes and thickened tissue encasing the ossicles ( Table 2). The ossicles themselves show enlarged osteocytes and chondrocytes [44]. However, otitis media is not common in the animals.…”

Section: Hearing Lossmentioning

confidence: 99%

Mucopolysaccharidosis Type I: A Review of the Natural History and Molecular Pathology

Hampe

Eisengart

Lund

et al. 2020

Cells

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Mucopolysaccharidosis type I (MPS I) is a rare autosomal recessive inherited disease, caused by deficiency of the enzyme α-L-iduronidase, resulting in accumulation of the glycosaminoglycans (GAGs) dermatan and heparan sulfate in organs and tissues. If untreated, patients with the severe phenotype die within the first decade of life. Early diagnosis is crucial to prevent the development of fatal disease manifestations, prominently cardiac and respiratory disease, as well as cognitive impairment. However, the initial symptoms are nonspecific and impede early diagnosis. This review discusses common phenotypic manifestations in the order in which they develop. Similarities and differences in the three animal models for MPS I are highlighted. Earliest symptoms, which present during the first 6 months of life, include hernias, coarse facial features, recurrent rhinitis and/or upper airway obstructions in the absence of infection, and thoracolumbar kyphosis. During the next 6 months, loss of hearing, corneal clouding, and further musculoskeletal dysplasias develop. Finally, late manifestations including lower airway obstructions and cognitive decline emerge. Cardiac symptoms are common in MPS I and can develop in infancy. The underlying pathogenesis is in the intra- and extracellular accumulation of partially degraded GAGs and infiltration of cells with enlarged lysosomes causing tissue expansion and bone deformities. These interfere with the proper arrangement of collagen fibrils, disrupt nerve fibers, and cause devastating secondary pathophysiological cascades including inflammation, oxidative stress, and other disruptions to intracellular and extracellular homeostasis. A greater understanding of the natural history of MPS I will allow early diagnosis and timely management of the disease facilitating better treatment outcomes.

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Histopathologic Changes of the Ear in Canine Models of Mucopolysaccharidosis Types I and VII

Cited by 5 publications

References 23 publications

Magnetic resonance findings in a domestic short‐hair cat with presumptive mucopolysaccharidosis

Magnetic resonance findings in a domestic short‐hair cat with presumptive mucopolysaccharidosis

Hearing loss in patients with mucopolysaccharidoses‐1 and ‐6 after hematopoietic cell transplantation: A longitudinal analysis

Mucopolysaccharidosis Type I: A Review of the Natural History and Molecular Pathology

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