Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Nephrotic Syndrome I : Introduction01:24

Nephrotic Syndrome I : Introduction

Nephrotic Syndrome is a chronic kidney disorder defined by clinical findings such as severe proteinuria, hypoalbuminemia, hyperlipidemia, and edema. These symptoms result from damage to the glomeruli, the kidney’s filtering units, increasing their permeability to proteins.Definition and Meaning:Proteinuria, defined as the loss of more than 3.5 grams of protein per day in adults, is a crucial feature of nephrotic syndrome. This condition is often accompanied by edema, the accumulation of fluid...
Nephrotic Syndrome II : Assessment and Medical Management01:26

Nephrotic Syndrome II : Assessment and Medical Management

IntroductionNephrotic syndrome is a kidney disorder marked by excessive protein loss in the urine, leading to various systemic complications. This condition often results from damage to the glomeruli—the kidney's filtering units—causing proteinuria, low blood protein levels, and fluid retention. Understanding the assessment, diagnosis, and management of nephrotic syndrome is essential for effective treatment and prevention of further kidney damage.AssessmentPatient History: Document any history...
Chronic Obstructive Pulmonary Disease IV: Clinical Manifestations01:19

Chronic Obstructive Pulmonary Disease IV: Clinical Manifestations

Chronic Obstructive Pulmonary Disease, or COPD, is a long-term condition marked by persistent and only partially reversible airflow limitation. It involves two overlapping conditions—chronic bronchitis and emphysema—which often co-appear but differ in dominant symptoms and underlying mechanisms.Chronic Bronchitis FeaturesChronic bronchitis presents with a persistent productive cough and thick, sometimes purulent mucus due to airway inflammation, enlarged mucus glands, and goblet cell...
COPD: Pathogenesis and Clinical Features01:20

COPD: Pathogenesis and Clinical Features

Chronic obstructive pulmonary disease (COPD) is a group of lung conditions that progressively worsen over time, including chronic bronchitis and emphysema. This cluster of diseases collectively leads to a gradual and irreversible decline in lung function over time.
The primary cause for the onset of COPD is cigarette smoking and exposure to air pollution. These hazardous factors initiate a chain reaction within the lungs, resulting in chronic inflammation, damage to the airways, and a...
Inflammatory Bowel Disease IV: Clinical Manifestations01:20

Inflammatory Bowel Disease IV: Clinical Manifestations

Inflammatory bowel disease (IBD) encompasses two major chronic disorders—ulcerative colitis and Crohn’s disease—each characterized by relapsing episodes of gastrointestinal inflammation. Although they share certain clinical features, their patterns of involvement and manifestations differ in ways that aid diagnosis and guide management.Ulcerative ColitisUlcerative colitis is limited to the colon and rectum and involves continuous inflammation of the mucosal layer. The disease course is marked...
Cirrhosis I: Introduction01:23

Cirrhosis I: Introduction

Cirrhosis is a chronic, irreversible liver disease characterized by the widespread replacement of healthy liver tissue with fibrotic scar tissue and the formation of regenerative nodules.Etiology of cirrhosisCirrhosis results from sustained liver injury that triggers progressive fibrosis and structural remodeling. The underlying causes are diverse, encompassing common and less frequent clinical conditions. Regardless of the origin, all causes lead to chronic inflammation, hepatocyte loss, and...

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Psychiatric manifestations in Neuronal ceroid lipofuscinoses.

Orphanet journal of rare diseases·2026
Same author

Expression of GPR34 in microglia remains stable in human Alzheimer's disease.

Acta neuropathologica·2026
Same author

Mapping Clinical Progression to Brain Atrophy in CLN2 Patients Under Cerliponase Alfa Treatment: A Prospective Neuroimaging Study.

Journal of inherited metabolic disease·2026
Same author

Translational lipidomics reveals BMP and its precursor LPG as biomarkers for CLN5 Batten disease.

bioRxiv : the preprint server for biology·2026
Same author

Recommendations for the diagnosis and management of cln3 disease (batten disease) using the Delphi consensus methodology.

Orphanet journal of rare diseases·2026
Same author

CFTR activity in nasal potential difference of adults with idiopathic bronchiectasis.

Respiratory research·2026
Same journal

Cumulative Contents.

Biochimica et biophysica acta·2020
Same journal

Molecular Basis of Disease Cumulative Contents.

Biochimica et biophysica acta·2020
Same journal

General Subjects Cumulative Contents.

Biochimica et biophysica acta·2020
Same journal

Erratum to 'on the role of exchangeable hydrogen bonds for the kinetics of P680<sup>+·</sup> Q<sub>A</sub> <sup>-·</sup> formation and P680<sup>+·</sup> Pheo<sup>-·</sup> recombination in photosystem II' [Biochim. Biophys. Acta 1276 (1996) 35-44].

Biochimica et biophysica acta·2019
Same journal

Oligomeric state of the light-harvesting complexes B800-850 and B875 from purple bacterium Rubrivivax gelatinosus in detergent solution.

Biochimica et biophysica acta·2019
Same journal

Regulation of pigment content and enzyme activity in the cyanobacterium Nostoc sp. Mac grown in continuous light, a light-dark photoperiod, or darkness.

Biochimica et biophysica acta·2019
See all related articles

Related Experiment Video

Updated: May 12, 2026

Intravitreal Injections in the Ovine Eye
03:37

Intravitreal Injections in the Ovine Eye

Published on: July 5, 2022

NCL diseases - clinical perspectives.

Angela Schulz1, Alfried Kohlschütter, Jonathan Mink

  • 1Children's Hospital, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

Biochimica Et Biophysica Acta
|April 23, 2013
PubMed
Summary
This summary is machine-generated.

Neuronal ceroid lipofuscinoses (NCLs), common childhood degenerative brain diseases, present diagnostic challenges due to genetic and phenotypic variability. A new classification and diagnostic algorithm aid precise identification for improved patient care.

Keywords:
BattenCeroidDiagnostic algorithmDisease classificationNCLs

More Related Videos

Cerenkov Luminescence Imaging (CLI) for Cancer Therapy Monitoring
08:45

Cerenkov Luminescence Imaging (CLI) for Cancer Therapy Monitoring

Published on: November 13, 2012

Related Experiment Videos

Last Updated: May 12, 2026

Intravitreal Injections in the Ovine Eye
03:37

Intravitreal Injections in the Ovine Eye

Published on: July 5, 2022

Cerenkov Luminescence Imaging (CLI) for Cancer Therapy Monitoring
08:45

Cerenkov Luminescence Imaging (CLI) for Cancer Therapy Monitoring

Published on: November 13, 2012

Area of Science:

  • Neurology
  • Genetics
  • Pediatrics

Background:

  • Neuronal ceroid lipofuscinoses (NCLs) are the most common childhood degenerative brain diseases.
  • These lysosomal storage disorders involve abnormal material accumulation in neurons, leading to dementia, epilepsy, motor decline, and visual failure.
  • Genetic heterogeneity and wide phenotypic variability complicate NCL diagnosis.

Purpose of the Study:

  • To introduce a new NCL classification system based on affected gene and age at onset.
  • To present a diagnostic algorithm for precise NCL type identification.
  • To emphasize the importance of accurate diagnosis for genetic counseling and optimal patient care.

Main Methods:

  • Development of a novel NCL classification system.
  • Creation of a diagnostic algorithm to delineate NCL subtypes.
  • Review of clinical characteristics and diagnostic challenges.

Main Results:

  • A new classification system precisely delineates NCL types by gene and onset age.
  • A diagnostic algorithm facilitates identification of specific NCL forms.
  • Precise diagnosis is crucial for tailored genetic counseling and care management.

Conclusions:

  • Accurate NCL diagnosis is essential for effective patient management and family support.
  • Specialized clinical teams are recommended for comprehensive NCL care.
  • Further research into underlying pathophysiology is needed for curative therapy development.