The juvenile-onset subtype of the neuronal ceroid lipofuscinoses (JNCL) is well known [Hofman, ISBN90-71534-19-7 1990] and ultrastructurally characterized by fingerprints and/or curvilinear bodies in many cell types. Linkage studies indicated a most likely location for CLN3, the gene involved in JNCL, in the interval between loci D16S297 and D16S57, within close proximity of the loci D16S298 and D16S299 [Mitchison et al., Genomics 22:465-468, 1993]. We present two sibs with a late onset progressive disease of mental deterioration, progressive macular degeneration, motor disturbances, and epilepsy. Histological symptoms of neuronal ceroid lipofuscinosis and ultrastructural granular osmiophilic deposits (GROD) in lymphocytes and neurons are found. Individual haplotypes at polymorphic marker loci on chromosome 16 were constructed to determine whether JNCL with GROD is linked to the CLN3 locus.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1002/ajmg.1320570211 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
The inflammatory profiling in a cohort of older patients suffering from cognitive decline and dementia.
Exp Gerontol
January 2025
Department of Clinical Sciences and Community Health, University of Milan, Via della Commenda 19, 20122 Milan, Italy; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Via Francesco Sforza 35, 20122 Milan, Italy. Electronic address:
Background: During aging, there is a progressive impairment of immune cell function that triggers the production of pro-inflammatory cytokines causing the so-called "inflammaging". Frailty represents a condition of increased vulnerability to stresses and reduced homeostatic reserve reflecting not only health status but also biological age. In older subjects without dementia, we showed that markers of inflammaging were differently associated with chronological age than with frailty.
View Article and Find Full Text PDFAlpha-1-Antitrypsin Deficiency Targeted Testing and Augmentation Therapy: A Canadian Thoracic Society Meta-analysis and Clinical Practice Guideline.
Chest
January 2025
Division of Respirology, Critical Care and Sleep Medicine, Department of Medicine, University of Saskatchewan, Saskatoon, SK, Canada.
Alpha-1-Antitrypsin (A1AT) deficiency is a common hereditary disorder associated with increased risk of developing chronic obstructive pulmonary disease (COPD). Many individuals with severe A1AT deficiency go undiagnosed, or are diagnosed late, and fail to benefit from disease-specific counseling and modifying care. Since the 2012 Canadian Thoracic Society (CTS) A1AT deficiency clinical practice guideline, new approaches to optimal diagnosis using modern genetic testing and studies of A1AT augmentation therapy have been published.
View Article and Find Full Text PDFImproved growth velocity using a new liquid human milk fortifier in Very Low Birth Weight infants: a multicenter, retrospective study.
Am J Perinatol
January 2025
Novant Health New Hanover Regional Medical Center, Wilmington, United States.
Objective: To compare growth outcomes and tolerance among very low birth weight (VLBW) infants receiving a new, liquid human milk fortifier (LHMF-NEW) or a human milk fortifier-acidified liquid (HMF-AL).
Study Design: Retrospective, multicenter study of 515 VLBW infants in three regional NICUs. The primary objective was to compare growth velocity (g/kg/day) during fortification between groups by repeated measures regression.
Characterization of children with early onset pediatric multiple sclerosis.
Eur J Paediatr Neurol
January 2025
Department of Pediatric Neurology, Children's Hospital Datteln, Witten/Herdecke University, Datteln, Germany. Electronic address:
Background: Early onset pediatric multiple sclerosis (EOPMS) provides an early window of opportunity to understand the mechanisms leading to MS.
Objective: To investigate clinical, laboratory and imaging differences between children with early onset pediatric MS (<11 years, EOPMS) and late onset pediatric MS (≥11 years, LOPMS).
Methods: Mostly prospectively collected data of children with MS including clinical presentation, MRI at onset, time to second relapse, relapse rate, treatment history, and CSF markers were eligible.
Management of presymptomatic juvenile patients with late-onset Pompe disease (LOPD).
Neuromuscul Disord
January 2025
ERN-NMD Center for Neuromuscular Disorders of Messina - Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy. Electronic address:
Late-onset Pompe disease (LOPD) includes patients from 1 year of age to adulthood. The vast heterogeneity in clinical manifestations and disease progression is not fully explained; however, a short disease duration and a young age seem to be good predictors of a better response to treatment. For this purpose, we investigated and followed up a cohort of 13 juvenile patients with LOPD from the clinical and therapeutic point of view, mainly pointing out the transition from presymptomatic to symptomatic status.
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!