What are cerebral sphingolipidoses

The collective term sphingolipidoses is a whole group of pathologies that are characterized by abnormal metabolism in terms of lipids and impaired metabolism. About what is included in the group of pathologies, and about their features you will learn from the article.


  1. What are cerebral sphingolipidoses.
  2. Lipofuscinosis and its waxy forms.
  3. Relationship to leptin.

What are cerebral sphingolipidoses

Lipidoses are forms of dyslipidemia that are characterized by disorders of fat metabolism of various kinds. If it is a disorder of lipid metabolism, we speak of sphingolipidoses. There are many of them, the group of cerebral disorders includes hereditary pathologies with muscle hypertonicity, progressive spastic palsy, vision loss, usually with central retinal degeneration and optic atrophy, seizures and mental defects. All these clinical manifestations are combined with abnormal cumulation of sphingomyelin and related fats.

Several forms of the pathology are distinguished, which differ from each other in their clinical manifestations and in the timing of their visualization:

  • pediatric (Tay-Sachs disease);
  • yuvenile (Jansky-Biliovsky, Spielmeier-Vogt, or Butte-na-Meyot disease);
  • adult (Kufs disease).

Synonyms for the disease are cerebral lipidosis, cerebromacular degeneration, amaurotic idiocy, and familial amaurotic idiocy. Domestic medicine also includes amaurotic congenital idiocy to types of amaurotic idiocy.

Lipofuscinosis and its waxy forms

One of the diseases of the group of cerebral sphingolipidoses is lipofuscinosis. This is the name given to the pathological cumulation of the fat-containing pigment. Waxy lipofuscinoses (ceroid, ceroid-lipofuscinosis) are especially important from the clinical point of view. This is a neuronal group of diseases with different types of inheritance but with obligatory pigment accumulation (these diseases are also referred to the group of cerebral sphingolipidoses).

These pathologies belong to the group of lysosomal accumulation diseases. Symptoms of the diseases are caused by excessive accumulation of lipofuscin pigment in the lysosomes of nerve cells and many other tissues of the body, including the liver, spleen, myocardium, and kidneys.

Affiliation with leptin

Affiliation with leptin is explained by the close proximity of the centers of fat metabolism and metabolic disturbances to the centers of eating behavior. The control of fat metabolism is multilevel, involving both gene mutations with autosomal dominant inheritance and impaired adipose tissue hormone perception with the development of leptin resistance. Of course, leptin plays an insignificant role in this variant, but one cannot ignore its possible intersection with lysosomal neurons.

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