NEURONAL CEROID-LIPOFUSCINOSIS (BATTEN'S DISEASE): RELATIONSHIP TO AMAUROTIC FAMILY IDIOCY?

PEDIATRICS ◽  
1969 ◽  
Vol 44 (4) ◽  
pp. 570-583
Author(s):  
Wolfgang Zeman ◽  
Paul Dyken
Keyword(s):  
Clinical Data ◽  
Neuronal Ceroid Lipofuscinosis ◽  
The Other ◽  
Gm2 Gangliosidosis ◽  
Gm1 Gangliosidosis ◽  
Ceroid Lipofuscinosis ◽  
Intractable Seizures ◽  
Tay Sachs Disease ◽  
Batten's Disease ◽  
Ceroid Lipofuscin

From the conditions generically classified as amaurotic familial idiocy, two distinctly different groups have emerged. One is characterized by grossly abnormal profiles for cerebral sphingolipids and consists of GM1-gangliosidosis and GM2-gangliosidosis or Tay-Sachs disease. The other group is composed of cases with normal sphingolipid profiles, but with neuronal accumulation of lipopigments of the ceroid/lipofuscin type, designated as neuronal ceroid-lipofuscinosis (NCL) or Batten's disease. Clinical data on 26 patients with this disorder reveal the course and symptomatology to be variable, but pathomorphologic and biochemical findings are reasonably constant. The course of the disorder is directly influenced by the presence or absence of intractable seizures.

scholarly journals Neuronal ceroid-lipofuscinosis, a type of amaurotic family idiocy: clinical and pathological study of four cases

1974 ◽  
Vol 32 (1) ◽  
pp. 1-14 ◽  
Author(s):  
Luciano de Souza Queiroz ◽  
Joaquim N. da Cruz Neto ◽  
J. Lopes de Faria
Keyword(s):  
Late Onset ◽  
Neuronal Ceroid Lipofuscinosis ◽  
Cerebral Atrophy ◽  
Cell Loss ◽  
Storage Material ◽  
Brazilian Literature ◽  
Ceroid Lipofuscinosis ◽  
Tay Sachs Disease ◽  
Gerontological Research

Neuronal ceroid-lipofuscinosis (NCL) is a recent term, proposed for acurate designation of the late-onset types of Amaurotic Family Idiocy (AFI). Histopathology shows ubiquitous intraneuronal accumulation of lipopigments, being the most important factor for characterization of the entity at present time. Biochemical changes and pathogenesis are obscure. NCL is in contrast to the infantile type of AFI (Tay-Sachs disease), in which intraneuronal accumulation of gangliosides (sphingolipids) is due to the well known deficiency of a lysosomal enzyme. The authors report on four cases of NCL, two brothers of the late infantile (Jansky-Bielschowsky) type and a brother and a sister of the juvenile (Spielmeyer-Sjögren) type. One autopsy and three cortical biopsies revealed moderate to severe distention of the neurons by lipopigment, with nerve cell loss, gliosis and cerebral atrophy. Lipopigment was also increased in liver, heart and spleen. The patients were the first in Brazilian literature in whom the storage material was identified as lipopigment by histochemical methods. A brief summary of the clinical features of NCL is presented, and relevant problems are discussed, concerning interpretation of the nature of the storage material, and significance of the disease for gerontological research.

Type 2 GM1 gangliosidosis and neuronal ceroid lipofuscinosis

Neurology ◽  
1982 ◽  
Vol 32 (5) ◽  
pp. 576-576
Author(s):  
J. A. Lowden ◽  
J. Callahan ◽  
R. Gravel ◽  
M. A. Skomorowski ◽  
L. Becker ◽  
...  
Keyword(s):  
Neuronal Ceroid Lipofuscinosis ◽  
Gm1 Gangliosidosis ◽  
Ceroid Lipofuscinosis

Motor neuron degeneration of mice is a model of neuronal ceroid lipofuscinosis (Batten's disease)

1993 ◽  
Vol 33 (4) ◽  
pp. 381-385 ◽  
Author(s):  
Roderick T. Bronson ◽  
Brian D. Lake ◽  
Susan Cook ◽  
Susanne Taylor ◽  
Muriel T. Davisson
Keyword(s):  
Motor Neuron ◽  
Neuronal Ceroid Lipofuscinosis ◽  
Motor Neuron Degeneration ◽  
Neuron Degeneration ◽  
Ceroid Lipofuscinosis ◽  
Batten's Disease

scholarly journals Neuronal Ceroid-lipofuscinosis in a Cat

1995 ◽  
Vol 32 (5) ◽  
pp. 485-488 ◽  
Author(s):  
R. Bildfell ◽  
C. Matwichuk ◽  
S. Mitchell ◽  
P. Ward
Keyword(s):  
Neuronal Ceroid Lipofuscinosis ◽  
Clinical Signs ◽  
Neuronal Ceroid Lipofuscinoses ◽  
Neurologic Disease ◽  
Ceroid Lipofuscinosis ◽  
Neural Tissues ◽  
Retinal Atrophy ◽  
The Brain ◽  
Reactive Astrocytosis ◽  
Ceroid Lipofuscin

Neuronal ceroid-lipofuscinosis was diagnosed in a young adult domestic short-haired cat euthanatized because of severe progressive neurologic disease. Clinical signs included blindness, seizures, and decreased mentation. An autofluorescent pigment, identified as ceroid-lipofuscin by electron microscopy and staining properties, was found within neurons of the central and peripheral nervous systems. A diffuse reactive astrocytosis accompanied by multifocal microgliosis was visible in all areas of the brain. Retinal atrophy with intraneuronal lipopigment accumulation was also identified. Contrary to the human neuronal ceroid-lipofuscinoses, pigment deposition appeared to be restricted to neural tissues.

scholarly journals Juvenile neuronal ceroid-lipofuscinosis: clinical and molecular investigation in a large family in Brazil

2011 ◽  
Vol 69 (1) ◽  
pp. 13-18 ◽  
Author(s):  
Eugênia Ribeiro Valadares ◽  
Mayara Xavier Pizarro ◽  
Luiz Roberto Oliveira ◽  
Regina Helena Caldas de Amorim ◽  
Tarcísio Márcio Magalhães Pinheiro ◽  
...  
Keyword(s):  
Clinical Data ◽  
Neuronal Ceroid Lipofuscinosis ◽  
Batten Disease ◽  
Large Family ◽  
Juvenile Neuronal Ceroid Lipofuscinosis ◽  
Autistic Behavior ◽  
Ceroid Lipofuscinosis ◽  
Molecular Investigation ◽  
Deceased Child ◽  
Common Group

OBJECTIVE: Juvenile Neuronal Ceroid-Lipofuscinosis (JNCL, CLN 3, Batten Disease) (OMIM #204200) belongs to the most common group of neurodegenerative disorders of childhood. We report the clinical data and molecular analysis of a large Brazilian family. METHOD: Family composed of two consanguineous couples and thirty-two children. Clinical data of ten JNCL patients and molecular analyses on 13 participants were obtained. RESULTS: The large 1.02 kb deletion was detected. The most severe phenotype, with autistic behavior, tics and parkinsonism was seen in a 12-year-old female and a milder phenotype in a 14-year-old male. Nyctalopia was the first symptom in one deceased child. The visual loss of six patients has been first observed in the school and not at home. CONCLUSION: The report highlights the phenotypical intrafamily variation in 10 affected children of this family. The molecular investigation of this large family in our metabolic center turned possible the diagnosis, right approach and genetic counseling.

scholarly journals Neuronal Ceroid-lipofuscinosis with prominent chorea and without visual manifestations: a case report

1979 ◽  
Vol 37 (1) ◽  
pp. 61-70 ◽  
Author(s):  
Luciano de Souza Queiroz ◽  
Joaquim Nogueira da Cruz Neto
Keyword(s):  
Neuronal Ceroid Lipofuscinosis ◽  
Paraffin Sections ◽  
Progressive Dementia ◽  
Ceroid Lipofuscinosis ◽  
Sudan Black B ◽  
Cytoplasmic Bodies ◽  
Tay Sachs Disease ◽  
Zebra Bodies ◽  
Cerebral Biopsy

A case of neuronal ceroid-lipofuscinosis (NCL) is reported in a 11-year-old girl, whose main symptoms were progressive dementia since the age of 4 years and choreic movements since age 10. Seizures, myoclonus and visual deterioration were absent and optic fundi were normal. A cerebral biopsy disclosed two basic types of stored substance in the cytoplasm of neurons: a) severely balloned nerve cells in cortical layers HI and V contained a non-autofluorescent material, which stained with PAS and Sudan Black B in frozen, but not in paraffin sections; ultrastructurally, these neurons showed abundant corpuscles similar to the membranous cytoplasmic bodies of Tay-Sachs disease and, in smaller amounts, also zebra bodies; b) slightly distended or non-distended neurons in all layers contained lipopigment granules, which were autofluorescent, PAS-positive and sudanophil in both frozen and paraffin sections; their ultrastructure was closely comparable to that of lipofuscin. Similar bodies were found in the swollen segments of axons and in a few astrocytes and endothelial cells. The histochemical and ultrastructural demonstration of large amounts of lipopigments allows a presumptive classification of the case as NCL. However, the presence of involuntary movements, the absence of visual disturbances and the unusual ultrastructural features place the patient into a small heterogeneous group within the NCL. A better classification of such unique instances of the disease must await elucidation of the basic enzymatic defects.

scholarly journals Positioning Head Tilt in Canine Lysosomal Storage Disease: A Retrospective Observational Descriptive Study

2021 ◽  
Vol 8 ◽  
Author(s):  
Shinji Tamura ◽  
Yumiko Tamura ◽  
Yuya Nakamoto ◽  
Daisuke Hasegawa ◽  
Masaya Tsuboi ◽  
...  
Keyword(s):  
Lysosomal Storage Disease ◽  
Storage Disease ◽  
Neuronal Degeneration ◽  
Neuronal Ceroid Lipofuscinosis ◽  
Clinical Signs ◽  
Head Tilt ◽  
Vestibular Nuclei ◽  
Lysosomal Storage ◽  
Gm2 Gangliosidosis ◽  
Gm1 Gangliosidosis

Positioning head tilt is a neurological sign that has recently been described in dogs with congenital cerebellar malformations. This head tilt is triggered in response to head movement and is believed to be caused by a lack of inhibition of the vestibular nuclei by the cerebellar nodulus and ventral uvula (NU), as originally reported cases were dogs with NU hypoplasia. We hypothesized that other diseases, such as lysosomal storage diseases that cause degeneration in the whole brain, including NU, may cause NU dysfunction and positioning head tilt. Videos of the clinical signs of canine lysosomal storage disease were retrospectively evaluated. In addition, post-mortem NU specimens from each dog were histopathologically evaluated. Nine dogs were included, five with lysosomal storage disease, two Chihuahuas with neuronal ceroid lipofuscinosis (NCL), two Border Collies with NCL, one Shikoku Inu with NCL, two Toy Poodles with GM2 gangliosidosis, and two Shiba Inus with GM1 gangliosidosis. Twenty-eight videos recorded the clinical signs of the dogs. In these videos, positioning head tilt was observed in seven of nine dogs, two Chihuahuas with NCL, one Border Collie with NCL, one Shikoku Inu with NCL, one Toy Poodle with GM2 gangliosidosis, and two Shiba Inus with GM1 gangliosidosis. Neuronal degeneration and loss of NU were histopathologically confirmed in all diseases. As positioning head tilt had not been described until 2016, it may have been overlooked and may be a common clinical sign and pathophysiology in dogs with NU dysfunction.

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