Visceral involvement in juvenile amaurotic idiocy

Kristensson, Krister; S, Rayner; Sourander, Patrick

doi:10.1007/bf00690677

Cited by 30 publications

(8 citation statements)

References 9 publications

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“…Sjovall also found an accumulation of a similar substance in lymph nodes and spleen and suggested that juvenile amaurotic idiocy was a generalized metabolic disorder. The finding oflarge amounts of lipofuscin in the visceral organs in the present cases of this disease, already described in a previous study (Kristensson, Rayner, and Sourander, 1965), supports this opinion.…”

Section: Discussionsupporting

confidence: 92%

Occurrence of lipofuscin in inherited metabolic disorders affecting the nervous system

Kristensson¹,

Sourander²

1966

Journal of Neurology, Neurosurgery & Psychiatry

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Section: Discussionsupporting

confidence: 92%

Occurrence of lipofuscin in inherited metabolic disorders affecting the nervous system

Kristensson¹,

Sourander²

1966

Journal of Neurology, Neurosurgery & Psychiatry

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“…Similar material is stored in a wide variety of other ovine tissues indicating a generalized metabolic disturbance, and in this it resembles the canine form. Although emphasis has been placed on the neurological consequences of the human syndromes, there is growing awareness of widespread visceral involvement in this species too (Kristensson et al, 1965;Dolman et d., 1972;de Baecque et al, 1976) and following the suggestion of Joosten et al (1973) the alternative name 'generalized ceroid-lipofuscinosis' has been used by some (Anzil et al, 1975;Schuurmans Stekhoven et al, 1976;Schwendemann, 1976).…”

Section: Discussionmentioning

confidence: 99%

“…On historical grounds the group is sometimes known as Batten's disease but in recent years the various syndromes have also been known as the 'neuronal ceroid-lipofuscinoses' (Zeman & Dyken, 1969;Zeman, 1976). A growing awareness that a wide variety of cell types other than neurones may also be affected (Kristensson et al. 1965;Dolman et al, 1972;de Baecque et al, 1976) has led to the suggestion that the term 'generalized ceroid-lipofuscinosis' be used (Joosten et al, 1973).…”

Section: Introductionmentioning

confidence: 99%

Ovine Ceroid‐lipofuscinosis: A Model of Batten's Disease

Jolly

Janmaat

West

et al. 1980

Neuropathology Appl Neurobio

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An inherited neurological disease of sheep was characterized by the intracellular accumulation of autofluorescent lipopigments in neurones and a wide variety of other cells within the body. The staining, fluorescent, ultrastructural and physical characteristics of the storage material were similar to those found in a heterogeneous group of storage diseases of children known as Batten's disease or the ceroid-lipofuscinoses. The ovine disease did not exactly fit any of the main human entities, but had features in common with both the late infantile and juvenile forms. It was concluded that this was a useful model for studying the pathogenesis of this type of storage disease and for therapeutic trials. A flock of sheep is maintained for this purpose.

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“… 13 Cytoplasmic deposits with the same staining properties as that found in the central nervous system can also be seen in the dorsal root ganglion cells and widely distributed in visceral organs and lymph nodes. 13 , 14 In the myocardium, the deposits are mainly localized in the perinuclear region of the muscle fibers. In the spleen, thymus, lymph nodes, and bone marrow, they are seen in large reticuloendothelial cells, and in the kidney the storage material is found in the epithelium of the distal part of the collecting tubules.…”

Section: Human Pathologymentioning

confidence: 99%

Juvenile neuronal ceroid lipofuscinosis (Batten disease): current insights

Østergaard

2016

DNND

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The present review is focused on juvenile neuronal ceroid lipofuscinosis (JNCL; Batten disease) due to a mutation in CLN3. Functional vision impairment occurring around 5–6 years of age is the first symptom in more than 80% of patients. Approximately 2 years later (though sometimes simultaneously), obvious signs of cognitive impairment appear. Behavior problems can occur in advance, especially in boys. These include anxious and depressed mood, aggressive behavior, and hallucinations, and even psychotic symptoms. Following the teens, severe dementia is present, including loss of memory, attention, and general reasoning abilities, as well as loss of independent adaptive skills such as mobility, feeding, and communicating. Sleep abnormalities, such as settling problems, nocturnal awakenings, and nightmares, are reported in more than half of patients. The vast majority, if not all, patients develop seizures, starting at approximately 10 years of age. Generalized tonic–clonic seizure occurs as the only type of seizure in approximately half of patients, and in combination with partial seizures in a third of patients. There seems to be no difference in seizure severity according to sex or genotype, and there is great variation in seizure activity among patients. Soon after diagnosis, patients begin to have slight ataxic symptoms, and at adolescence extrapyramidal symptoms (rigidity, bradykinesia, slow steps with flexion in hips and knees) occur with increasing frequency. Chewing and swallowing difficulties emerge as well, and food intake is hampered in the late teens. Disabling periodically involuntary movements may occur as well. A progressive cardiac involvement with repolarization disturbances, ventricular hypertrophy, and sinus-node dysfunction, ultimately leading to severe bradycardia and/or other conduction abnormalities, starts in the mid-teens. Patients are usually bedridden at 20 years of age, and death usually occurs in the third decade of life.

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Visceral involvement in juvenile amaurotic idiocy

Cited by 30 publications

References 9 publications

Occurrence of lipofuscin in inherited metabolic disorders affecting the nervous system

Occurrence of lipofuscin in inherited metabolic disorders affecting the nervous system

Ovine Ceroid‐lipofuscinosis: A Model of Batten's Disease

Juvenile neuronal ceroid lipofuscinosis (Batten disease): current insights

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