Neuronal Ceroid-Lipofuscinoses

A group of severe neurodegenerative diseases characterized by intracellular accumulation of autofluorescent wax-like lipid materials (CEROID; LIPOFUSCIN) in neurons. There are several subtypes based on mutations of the various genes, time of disease onset, and severity of the neurological defects such as progressive DEMENTIA; SEIZURES; and visual failure.

Also Known As:

Neuronal Ceroid Lipofuscinosis; Batten Disease; Lipofuscinosis, Neuronal Ceroid; Jansky Bielschowsky Disease; Spielmeyer Vogt Disease; Ceroid Lipofuscinosis, Neuronal; Kufs Disease; Adult Neuronal Ceroid Lipofuscinosis; Amaurotic Idiocy, Adult Type; Batten-Mayou Disease; Batten-Spielmeyer-Vogt Disease; CLN3-Related Neuronal Ceroid-Lipofuscinosis; CLN4A; CLN4B; Ceroid Lipofuscinosis, Neuronal 3, Juvenile; Ceroid Lipofuscinosis, Neuronal 4; Ceroid Lipofuscinosis, Neuronal, 3; Ceroid Lipofuscinosis, Neuronal, 4A, Autosomal Recessive; Ceroid Lipofuscinosis, Neuronal, Parry Type; Ceroid Storage Disease; Infantile Neuronal Ceroid Lipofuscinosis; Juvenile Batten Disease; Juvenile Cerebroretinal Degeneration; Juvenile Neuronal Ceroid Lipofuscinosis; Kuf's Disease; Kufs Disease Autosomal Recessive; Kufs Disease, Autosomal Dominant; Kufs Disease, Autosomal Recessive; Kufs Type Neuronal Ceroid Lipofuscinosis; Late-Infantile Neuronal Ceroid Lipofuscinosis; Lipofuscin Storage Disease; Neuronal Ceroid Lipofuscinosis Juvenile Type; Neuronal Ceroid Lipofuscinosis, Adult; Neuronal Ceroid Lipofuscinosis, Adult Type; Neuronal Ceroid Lipofuscinosis, Infantile; Neuronal Ceroid Lipofuscinosis, Juvenile; Neuronal Ceroid Lipofuscinosis, Late Infantile; Neuronal Ceroid Lipofuscinosis, Late-Infantile; Neuronal Ceroid-Lipofuscinosis; Spielmeyer-Sjogren Disease; Vogt Spielmeyer Disease; Vogt-Spielmeyer Disease; Batten Disease, Juvenile; Batten Diseases, Juvenile; Batten Mayou Disease; Batten Spielmeyer Vogt Disease; CLN3 Related Neuronal Ceroid Lipofuscinosis; CLN3-Related Neuronal Ceroid-Lipofuscinoses; CLN4As; Cerebroretinal Degeneration, Juvenile; Cerebroretinal Degenerations, Juvenile; Ceroid Storage Diseases; Ceroid-Lipofuscinosis, CLN3-Related Neuronal; Disease, Ceroid Storage; Disease, Juvenile Batten; Disease, Kuf's; Disease, Lipofuscin Storage; Disease, Spielmeyer-Sjogren; Disease, Vogt Spielmeyer; Disease, Vogt-Spielmeyer; Juvenile Batten Diseases; Juvenile Cerebroretinal Degenerations; Kuf Disease; Lipofuscin Storage Diseases; Neuronal Ceroid Lipofuscinoses; Neuronal Ceroid-Lipofuscinoses, CLN3-Related; Neuronal Ceroid-Lipofuscinosis, CLN3-Related; Santavuori Haltia Disease; Spielmeyer Disease, Vogt; Spielmeyer Sjogren Disease; Storage Disease, Ceroid; Storage Disease, Lipofuscin; Ceroid Lipofuscinosis, Neuronal, 4B, Autosomal Dominant; Ceroid-Lipofuscinosis, Neuronal; Jansky-Bielschowsky Disease; Santavuori-Haltia Disease; Spielmeyer-Vogt Disease

Nervous System Diseases: 14737
- Neurodegenerative Diseases: 44095
  - Nervous System Heredodegenerative Disorders: 62
    - Neuronal Ceroid-Lipofuscinoses: 1153
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 960
- Inborn Genetic Diseases: 12342
  - Inborn Errors Metabolism: 1183
    - Inborn Errors Lipid Metabolism
      - Lipidoses: 676
        Neuronal Ceroid-Lipofuscinoses: 1153
  - Nervous System Heredodegenerative Disorders: 62
    - Neuronal Ceroid-Lipofuscinoses: 1153
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10634
  - Inborn Errors Metabolism: 1183
    - Inborn Errors Lipid Metabolism
      - Lipidoses: 676
        Neuronal Ceroid-Lipofuscinoses: 1153
  - Lipid Metabolism Disorders: 987
    - Inborn Errors Lipid Metabolism
      - Lipidoses: 676
        Neuronal Ceroid-Lipofuscinoses: 1153

Rodolfo Bernardi Selected Research

Rodolfo Bernardi Research Topics

Disease

Drug/Important Bio-Agent (IBA)