Neuronal ceroid lipofuscinosis: clinical and morphologic findings in nine affected Polish Owczarek Nizinny (PON) dogs

Narfström, Kristina; Wrigstad, Anders; Ekesten, Björn; Berg, A.–L.

doi:10.1111/j.1463-5224.2007.00527.x

Cited by 22 publications

(15 citation statements)

References 31 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…1 and 2). Retinal atrophy and pigment accumulation in NCL are commonly observed in the human infantile and juvenile forms 11,17 and some canine 13,14,22,28 and ovine forms, 12 but prior to the current report, retinal lesions have been reported only in 1 feline case. 4 It appears that intraneuronal lipopigment accumulation inversely correlates with neuronal loss in NCL.…”

Section: Discussionmentioning

confidence: 64%

Characterization of Neuronal Ceroid-Lipofuscinosis in 3 Cats

et al. 2013

View full text Add to dashboard Cite

Three young domestic shorthair cats were presented for necropsy with similar histories of slowly progressive visual dysfunction and neurologic deficits. Macroscopic examination of each cat revealed cerebral and cerebellar atrophy, dilated lateral ventricles, and slight brown discoloration of the gray matter. Histologically, there was bilateral loss of neurons within the limbic, motor, somatosensory, visual, and, to a lesser extent, vestibular systems with extensive astrogliosis in the affected regions of all 3 cases. Many remaining neurons and glial cells throughout the entire central nervous system were distended by pale yellow to eosinophilic, autofluorescent cytoplasmic inclusions with ultrastructural appearances typical of neuronal ceroid-lipofuscinoses (NCLs). Differences in clinical presentation and neurological lesions suggest that the 3 cats may have had different variants of NCL. Molecular genetic characterization in the 1 cat from which DNA was available did not reveal any plausible diseasecausing mutations of the CLN1 (PPT1), CLN3, CLN5, CLN8, and CLN10 (CTSD) genes. Further investigations will be required to identify the mutations responsible for NCLs in cats.

show abstract

Section: Discussionmentioning

confidence: 64%

Characterization of Neuronal Ceroid-Lipofuscinosis in 3 Cats

et al. 2013

View full text Add to dashboard Cite

show abstract

“…Among the other NCLs, some exhibit RPE storage body accumulation while others do not. 2,21,27,29,[43][44][45][46] It is not known whether storage body accumulation in the NCLs is itself detrimental. However, this accumulation certainly correlates with pathology at the cellular level.…”

Section: Discussionmentioning

confidence: 99%

Retinal Pathology in a Canine Model of Late Infantile Neuronal Ceroid Lipofuscinosis

Katz

Coates

Cooper

et al. 2008

Invest. Ophthalmol. Vis. Sci.

View full text Add to dashboard Cite

show abstract

“…10 Subunit c of mitochondrial adenosine triphosphate synthase (SCMAS) is the main storage material in the diseases caused by the mutations in CLN2, CLN3, CLN5, CLN6, CLN7, CLN8, and CLCN7, whereas the accumulation of saposins (A and D) is recognized in some subtypes of NCL (those affected by mutations in CLN1 and CLN10). 10 Clinical and pathological features of the disease have been reported in several animal species, such as dogs, 1,2,13,14,18,19,22,23,26,28 cats, 16,21 sheep, 5,12,24,25 cattle, 6,8,11 goats, 4 horses, 9,31 and nonhuman primates. 29 Even in the veterinary field, mutations of causative genes have been identified: CLN5, 5 CLN6, 24,25 and CL10 30 in sheep; CLN5 in cattle 8 ; and CLN2 (TPP1), 1 CLN5, 18 CLN8, 13 and CLN10 (CTSD) 2 in dogs.…”

mentioning

confidence: 99%

Clinical and Pathologic Features of Neuronal Ceroid-Lipofuscinosis in a Ferret (Mustela putorius furo)

et al. 2011

View full text Add to dashboard Cite

Clinical and pathologic features of neuronal ceroid-lipofuscinosis in a 4-month-old ferret are reported. Clinical signs including neurological symptoms appeared at 3 months of age and progressed rapidly. By magnetic resonance imaging, severe cerebral atrophy was recognized. Histopathologically, there was severe neuronal loss and diffuse astrogliosis with macrophage accumulations; lesions were found predominantly in the cerebral cortex. Intracytoplasmic pigments were observed in surviving neurons and macrophages throughout the brain. The pigments were intensely positive for periodic acid-Schiff, Luxol fast blue, and Sudan black B and exhibited a green autofluorescence. Electron microscopic examination revealed the accumulation of electron-dense granular material within lysosomes of neurons and macrophages. Immunohistochemically, a large number of saposin-positive granules accumulated in the neuronal cells, astrocytes, and macrophages of the lesions, but significant immunoreactivity for subunit c of mitochondrial adenosine triphosphate synthase was not observed. Based on these findings, the animal was diagnosed as affected by neuronal ceroid-lipofuscinosis.

show abstract

Neuronal ceroid lipofuscinosis: clinical and morphologic findings in nine affected Polish Owczarek Nizinny (PON) dogs

Cited by 22 publications

References 31 publications

Characterization of Neuronal Ceroid-Lipofuscinosis in 3 Cats

Characterization of Neuronal Ceroid-Lipofuscinosis in 3 Cats

Retinal Pathology in a Canine Model of Late Infantile Neuronal Ceroid Lipofuscinosis

Clinical and Pathologic Features of Neuronal Ceroid-Lipofuscinosis in a Ferret (Mustela putorius furo)

Contact Info

Product

Resources

About