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Santavuori–Haltia disease

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Definition

noun

An extremely rare form of neuronal ceroid lipofuscinosis that is associated with pathological mutations in PPT1 gene


Supplement

Neuronal ceroid lipofuscinosis is a neurodegenerative disorder wherein there is an excess of lipofuscin in cells. Lipofuscin is a pigmented lipid granule and a residue of lysosomal digestion. Neuronal ceroid lipofuscinosis is classified into ten types according to the associated gene. Santavuori–Haltia disease is a type 1 neuronal ceroid lipofuscinosis and is associated with PPT1 gene. This gene codes for palmitoyl-protein thioesterase 1, which is a glycoprotein involved in the breaking down of lipid-modified proteins during lysosomal degradation.

The condition is inherited in an autosomal recessive pattern. This means that the individual has two copies of the defective gene and therefore manifests symptoms associated with the disease. A carrier of the disease would have only one copy of the defective gene and therefore may not show symptoms.

Infants with the disease show symptoms at about nine to 19 months of age. Symptoms include myoclonic jerks and microcephaly. They lose their motor skills and speech (developmental regression). Epilepsy, cerebellar ataxia, hypotonia, and optic atrophy may also manifest.


Synonym(s):

  • infantile neuronal ceroid lipofuscinoses
  • Santavuori disease
  • Hagberg-Santavuori disease
  • infantile Finnish type neuronal ceroid lipofuscinosis
  • Balkan disease
  • neuronal ceroid lipofuscinosis type 1

See also: