[HTML][HTML] Canine neuronal ceroid lipofuscinoses: Promising models for preclinical testing of therapeutic interventions

ML Katz, E Rustad, GO Robinson, REH Whiting… - Neurobiology of …, 2017 - Elsevier
The neuronal ceroid lipofuscinoses (NCLs) are devastating inherited progressive
neurodegenerative diseases, with most forms having a childhood onset of clinical signs. The …

Audiogenic reflex seizures in cats

M Lowrie, C Bessant, RJ Harvey… - Journal of feline …, 2016 - journals.sagepub.com
Objectives This study aimed to characterise feline audiogenic reflex seizures (FARS).
Methods An online questionnaire was developed to capture information from owners with …

Neuronal Ceroid Lipofuscinosis in a Domestic Cat Associated with a DNA Sequence Variant That Creates a Premature Stop Codon in CLN6

ML Katz, RM Buckley, V Biegen… - G3: Genes …, 2020 - academic.oup.com
A neutered male domestic medium-haired cat presented at a veterinary neurology clinic at
20 months of age due to progressive neurological signs that included visual impairment …

Intragenic MFSD8 duplication and histopathological findings in a rabbit with neuronal ceroid lipofuscinosis

M Christen, KM Gregor, A Böttcher‐Künneke… - Animal …, 2024 - Wiley Online Library
Neuronal ceroid lipofuscinoses (NCL) are among the most prevalent neurodegenerative
disorders of early life in humans. Disease‐causing variants have been described for 13 …

Screening and carrier rate of neuronal ceroid lipofuscinosis in Chihuahua dogs in Japan

S Pervin, MS Islam, N Tada, T Tsutsui, MM Rahman… - Animals, 2022 - mdpi.com
Simple Summary Neuronal ceroid lipofuscinosis (NCL) is a rare group of lethal
neurodegenerative lysosomal storage diseases, in which a homozygous single base-pair …

Seizure etiologic classification and long-term outcome for cats with juvenile-onset seizures

M Qahwash, HLB Heller - Journal of the American Veterinary …, 2018 - Am Vet Med Assoc
OBJECTIVE To identify seizure etiologic classification for cats that developed seizures at<
12 months of age and describe the long-term outcome of affected cats. DESIGN …

MRI findings of neuronal ceroid lipofuscinosis in a cat

C White, J Mortier, R Verin, T Maddox… - Journal of Feline …, 2018 - journals.sagepub.com
Case summary A 2-year-old male domestic shorthair cat presented to the University of
Liverpool Small Animal Teaching Hospital with a 2 week history of altered mentation …

A major facilitator superfamily domain 8 frameshift variant in a cat with suspected neuronal ceroid lipofuscinosis

J Guevar, P Hug, F Giebels, A Durand… - Journal of veterinary …, 2020 - Wiley Online Library
A 2‐year‐old male domestic shorthair cat was presented for a progressive history of
abnormal posture, behavior, and mentation. Menace response was absent bilaterally, and …

Metabolic and degenerative encephalopathies

S Hecht - Diagnostic MRI in dogs and cats, 2018 - taylorfrancis.com
While imaging findings in different disorders vary, bilaterally symmetric signal intensity
changes to deep gray matter nuclei, with or without abnormal contrast enhancement …

Feline Niemann-Pick Disease With a Novel Mutation of SMPD1 Gene

Y Takaichi, JK Chambers, MK Kok… - Veterinary …, 2020 - journals.sagepub.com
A 4-month-old female mixed-breed cat showed gait disturbance and eventual dysstasia with
intention tremor and died at 14 months of age. Postmortem histological analysis revealed …