Céroïdes-lipofuscinoses neuronal

The neuronal céroïdes-lipofuscinoses are a group of degenerative diseases of overload lysosomale characterized by a neurological and mental progressive deterioration being accompanied by convulsions and leading quickly to death. The progressive loss of the vision is a characteristic of the majority of the céroïdes-lipofuscinoses.

Different the céroïdes-lipofuscinoses is characterized by the age from occurred from the disease and the order of appearance of the signs. One distinguishes as follows:

  • the infantile céroïde-lipofuscinose or neuronal disease of Hagberg-Santavuori or céroïde-lipofuscinose of type 1: the children are normal with the birth. Towards the age of two a loss of the vision with convulsions appears. The neurodégénérescence occurs secondarily. The age of the death is between 8 and 11 years.

  • the late céroïde-lipofuscinose infantile or neuronal disease of Jansky-Bielschowsky or céroïde-lipofuscinose of type 2: the first signs occur between 2 and 4 years generally by convulsions quickly followed by signs of neurodégénérescence: stop of the development, Ataxia, pyramidal and extra Syndrome pyramidal. The loss of vision occurs between 4 and 6 years and leads quickly towards total blindness. The age of the death is between 10 and 30 ans.
    There exist the variable ones of this form

    • the late infantile céroïde-lipofuscinose type Turkish
    • the late infantile céroïde-lipofuscinose type Finnish
    • the infantile céroïde-lipofuscinose late alternative located in South America, Costa-Rica, Portugal etc

  • the youthful céroïde-lipofuscinose or disease of Batten or neuronal disease of Spielmeyer-Vogt or céroïde-lipofuscinose of type 3: First signs towards 4 to 10 years often loss of vision leading quickly to total, followed blindness generalized epilepsy or myoclonic convulsions. The life expectancy is between 10 and 30 years.

  • the adult céroïde-lipofuscinose or neuronal disease of Kufs or céroïde-lipofuscinose of type 4: The first signs appear between 10 and 30 years and death occurs 10 years afterwards. The demonstrations start with episodes of myoclonic convulsions with anomalies of the behavior. An insanity settles with ataxia.

  • neuronal Epilepsy of north or céroïde-lipofuscinose of type 5: This type of céroïde-lipofuscinose neuronal starts between 5 and 10 years. It appears mainly by convulsions and episodes myoclonic.

Other names

  • Deficit out of palmitoyl-protein thioestérase

Incidence & Prevalence

The neuronal céroïdes-lipofuscinoses represent most frequent of the hereditary degenerative diseases neuro with a Prévalence of 1 out of 25000.

The incidence varies according to the countries from 0,1 to 7 per 100.000 births. Meadows of half of the brought back cases are in Finland where the incidence is of 1 out of 20.000 births.

Mode of transmission

Sources

  • Chabrol B, Orphanet
  • GeneTests: Medical Genetics Information Resource (database online). Copyright, University off Washington, Seattle. 1993-2005

External bonds

  • Céroïde Lipofuscinose Association To overcome the Diseases Lysosomales

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