Biomaterial Database

Neuronal ceroid lipofuscinosis: late infantile or Jansky Bielschowsky type--re-revisited. 2001

R B Wheeler, and M Schlie, and E Kominami, and L Gerhard, and H H Goebel

Department of Paediatrics, Royal Free and University College Medical School, The Rayne Institute, London, UK. ruth.wheeler@ucl.ac.uk

Among the now eight genetic types of neuronal ceroid-lipofuscinoses (NCL), CLN1 to CLN8, CLN2 is considered classic late-infantile NCL. It was originally described by Jansky in a family of eight children with four of them affected [Jansky J (1908) Sborn Lék 13:165-196] and, subsequently, by Bielschowsky in a family of three children each of whom was affected, and, hence, termed Jansky-Bielschowsky type of NCL. Earlier, archival studies of Bielschowsky's original post-mortem tissue blocks had documented accumulation of autofluorescent lipopigments with a curvilinear ultrastructure. In a subsequent study, described here, immunohistochemical absence of the CLN2-related lysosomal enzyme tripeptidyl peptidase-I and two heterozygous mutations in the CLN2 gene could be demonstrated in these archival tissues, further corroborating the identity of Bielschowsky's familial disorder and CLN2 described by M. Bielschowsky at the beginning of the last century. Furthermore, these immunohistochemical and mutational investigations underscore the value of archival tissue studies.

UI	MeSH Term	Description	Entries
D007150	Immunohistochemistry	Histochemical localization of immunoreactive substances using labeled antibodies as reagents.	Immunocytochemistry,Immunogold Techniques,Immunogold-Silver Techniques,Immunohistocytochemistry,Immunolabeling Techniques,Immunogold Technics,Immunogold-Silver Technics,Immunolabeling Technics,Immunogold Silver Technics,Immunogold Silver Techniques,Immunogold Technic,Immunogold Technique,Immunogold-Silver Technic,Immunogold-Silver Technique,Immunolabeling Technic,Immunolabeling Technique,Technic, Immunogold,Technic, Immunogold-Silver,Technic, Immunolabeling,Technics, Immunogold,Technics, Immunogold-Silver,Technics, Immunolabeling,Technique, Immunogold,Technique, Immunogold-Silver,Technique, Immunolabeling,Techniques, Immunogold,Techniques, Immunogold-Silver,Techniques, Immunolabeling
D009472	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.	Batten Disease,Ceroid Lipofuscinosis, Neuronal, 4B, Autosomal Dominant,Ceroid-Lipofuscinosis, Neuronal,Jansky-Bielschowsky Disease,Kufs Disease,Santavuori-Haltia Disease,Spielmeyer-Vogt 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,Lipofuscinosis, Neuronal Ceroid,Neuronal Ceroid Lipofuscinosis,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 Lipofuscinosis, Neuronal,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,Jansky Bielschowsky Disease,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,Spielmeyer Vogt Disease,Storage Disease, Ceroid,Storage Disease, Lipofuscin
D009474	Neurons	The basic cellular units of nervous tissue. Each neuron consists of a body, an axon, and dendrites. Their purpose is to receive, conduct, and transmit impulses in the NERVOUS SYSTEM.	Nerve Cells,Cell, Nerve,Cells, Nerve,Nerve Cell,Neuron
D010447	Peptide Hydrolases	Hydrolases that specifically cleave the peptide bonds found in PROTEINS and PEPTIDES. Examples of sub-subclasses for this group include EXOPEPTIDASES and ENDOPEPTIDASES.	Peptidase,Peptidases,Peptide Hydrolase,Protease,Proteases,Proteinase,Proteinases,Proteolytic Enzyme,Proteolytic Enzymes,Esteroproteases,Enzyme, Proteolytic,Hydrolase, Peptide
D010450	Endopeptidases	A subclass of PEPTIDE HYDROLASES that catalyze the internal cleavage of PEPTIDES or PROTEINS.	Endopeptidase,Peptide Peptidohydrolases
D002490	Central Nervous System	The main information-processing organs of the nervous system, consisting of the brain, spinal cord, and meninges.	Cerebrospinal Axis,Axi, Cerebrospinal,Axis, Cerebrospinal,Central Nervous Systems,Cerebrospinal Axi,Nervous System, Central,Nervous Systems, Central,Systems, Central Nervous
D004152	Dipeptidyl-Peptidases and Tripeptidyl-Peptidases	A subclass of exopeptidases that includes enzymes which cleave either two or three AMINO ACIDS from the end of a peptide chain.	Dipeptidyl Peptidase,Dipeptidyl Peptidases,Dipeptidylpeptide Hydrolase,Tripeptidyl-Peptidase,Dipeptidylpeptide Hydrolases,Tripeptidyl-Peptidases,Dipeptidyl Peptidases and Tripeptidyl Peptidases,Hydrolase, Dipeptidylpeptide,Peptidase, Dipeptidyl,Tripeptidyl Peptidase,Tripeptidyl Peptidases,Tripeptidyl-Peptidases and Dipeptidyl-Peptidases
D004252	DNA Mutational Analysis	Biochemical identification of mutational changes in a nucleotide sequence.	Mutational Analysis, DNA,Analysis, DNA Mutational,Analyses, DNA Mutational,DNA Mutational Analyses,Mutational Analyses, DNA
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000091346	Tripeptidyl-Peptidase 1	Lysosomal Serine proteases that release N-terminal tripeptide from a polypeptide and cleave peptides between hydrophobic residues. An enzyme that in humans encoded by the TPP1 gene. It is involved in the degradation of bone collagen. Mutations in this gene are associated with the CEROID LIPOFUSCINOSIS, NEURONAL, 2; and SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE CEROID LIPOFUSCINOSIS, NEURONAL, 2; AND SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7.	CLN2 Protein,TPP1 Protein,Tripeptidyl Aminopeptidase I,Tripeptidyl Peptidase I,Tripeptidyl Protease I,Tripeptidyl-Peptidase I,Peptidase I, Tripeptidyl,Protein, CLN2,Protein, TPP1