Thyroid tissue from two patients with Batten-Spielmeyer-Vogt disease (BSV) was studied for peroxidase enzyme activity and for morphological abnormalities by light and electron microscopy. Diagnosis was confirmed by the demonstration of intracytoplasmic material identical to that described in other reported cases of BSV. There was a substantial decrease in peroxidase activity in the thyroid tissue from both patients. An abnormally low level of peroxidase activity had previously been demonstrated in the white blood cells of these patients. Thyroid biopsy offers obvious advantages over brain biopsy, provides adequate tissue for enzyme analysis, and allows the demonstration of the intracytoplasmic structures characteristic of BSV.
Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
Characterisation of sleep in a mouse model of CLN3 disease revealed sex-specific sleep disturbances.
J Sleep Res
January 2025
Department of Ophthalmology and Visual Sciences, University of Kentucky, Lexington, Kentucky, USA.
The neuronal ceroid lipofuscinoses (NCLs) are a group of recessively inherited neurodegenerative diseases characterizsed by lysosomal storage of fluorescent materials. CLN3 disease, or juvenile Batten disease, is the most common NCL that is caused by mutations in the Ceroid Lipofuscinosis, Neuronal 3 (CLN3) gene. Sleep disturbances are among the most common symptoms associated with CLN3 disease that deteriorate the patients' life quality, yet this is understudied and has not been delineated in animal models of the disease.
View Article and Find Full Text PDFSpeech, Language and Non-verbal Communication in CLN2 and CLN3 Batten Disease.
J Inherit Metab Dis
January 2025
Speech and Language, Murdoch Children's Research Institute, Parkville, Victoria, Australia.
CLN2 and CLN3 diseases, the most common types of Batten disease (also known as neuronal ceroid lipofuscinosis), are childhood dementias associated with progressive loss of speech, language and feeding skills. Here we delineate speech, language, non-verbal communication and feeding phenotypes in 33 individuals (19 females) with a median age of 9.5 years (range 3-28 years); 16 had CLN2 and 17 CLN3 disease; 8/15 (53%) participants with CLN2 and 8/17 (47%) participants with CLN3 disease had speech and language impairments prior to genetic diagnosis.
View Article and Find Full Text PDFIntroduction: CLN8-Batten disease is a rare neurodegenerative disorder characterized phenotypically by progressive deterioration of motor and cognitive abilities, visual symptoms, epileptic seizures, and premature death. Mutations in CLN8 result in characteristic Batten disease symptoms and brain-wide pathology including accumulation of lysosomal storage material, gliosis, and neurodegeneration. Recent investigations of other subtypes of Batten disease (CLN1, CLN3, CLN6) have emphasized the influence of biological sex on disease and treatment outcomes; however, little is known about sex differences in the CLN8 subtype.
View Article and Find Full Text PDFGene therapy ameliorates bowel dysmotility and enteric neuron degeneration and extends survival in lysosomal storage disorder mouse models.
Sci Transl Med
January 2025
Department of Pediatrics, Washington University in St. Louis, School of Medicine, St. Louis, MO 63110, USA.
Children with neurodegenerative disease often have debilitating gastrointestinal symptoms. We hypothesized that this may be due at least in part to underappreciated degeneration of neurons in the enteric nervous system (ENS), the master regulator of bowel function. To test this hypothesis, we evaluated mouse models of neuronal ceroid lipofuscinosis type 1 and 2 (CLN1 and CLN2 disease, respectively), neurodegenerative lysosomal storage disorders caused by deficiencies in palmitoyl protein thioesterase-1 and tripeptidyl peptidase-1, respectively.
View Article and Find Full Text PDFNeuronal ceroid lipofuscinosis 11 (CLN11) presenting with early-onset cone-rod dystrophy and learning difficulties.
Neurogenetics
January 2025
Department of Neuroscience and Behavioural Sciences, School of Medicine at Ribeirão Preto, University of São Paulo, Bandeirantes Av. 3900, Ribeirão Preto, São Paulo, 14040-900, Brazil.
Neuronal Ceroid Lipofuscinosis 11 (CLN11) is an ultra-rare subtype of adult-onset Neuronal Ceroid Lipofuscinosis. Its phenotype is variable and not fully known. A 21-year-old man was evaluated in our neurogenetic outpatient clinic for early onset complex phenotype, including learning difficulties, cerebellar ataxia, cone-rod dystrophy, epilepsy, and dystonia.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!