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At a glance

Hereditary progressive neurodegenerative lysosomal storage disorders with mental retardation, visual loss (retinitis pigmentosa), and seizures. Neuronal ceroid lipofuscinoses are probably the most common class of neurodegenerative disease in children.

Synonyms

Batten Disease; Finnish Infantile Neuronal Ceroid Lipofuscinosis Type; Infantile Neuronal Ceroid Lipofuscinoses; Santavuori Disease; Santavuori-Haltia Disease; Haltia-Santavuori Syndrome; Jansky-Bielschowsky Disease; Late Infantile Type of Amaurotic Idiocy; Late Infantile Batten Disease; Infantile Batten Disease; Vogt-Spielmeyer Disease; Amaurotic Familial Idiocy of the Juvenile Type; Kufs Disease; Autosomal Recessive Kufs Disease.

History

First described after British neurologist and neuropathologist Frederick Batten in 1903.

Incidence

Incidence rates vary from 1:67,000 in Italy and Germany to 1:14,000 in Iceland and 1:20,000 in Finland to 1:150,000 in the general population.

Classification

Four types of neuronal ceroid lipofuscinoses are traditionally described in the literature. They are characterized by intralysosomal accumulations of autofluorescent lipopigment in various tissues according to the age of onset:

  • Type I: Infantile Neuronal Ceroid Lipofuscinosis (Finnish Infantile Neuronal Ceroid Lipofuscinosis Type; Infantile Neuronal Ceroid Lipofuscinoses; Santavuori Disease; Santavuori-Haltia Disease; Haltia-Santavuori Syndrome)

  • Type II: Late Infantile Neuronal Ceroid Lipofuscinosis (Jansky-Bielschowsky Disease; Late Infantile Type of Amaurotic Idiocy; Late Infantile Batten Disease)

  • Type III: Juvenile Neuronal Ceroid Lipofuscinosis (Infantile Batten Disease; Vogt-Spielmeyer Disease; Amaurotic Familial Idiocy of the Juvenile Type)

  • Type IV: Adult Neuronal Ceroid Lipofuscinosis (Kufs Disease; Autosomal Recessive Kufs Disease)

A new international nomenclature has been suggested and identifies each Neuronal Ceroid Lipofuscinosis both genetically (defective gene CLN1-CLN14) and clinically (age of onset).

Genetic inheritance

All neuronal ceroid lipofuscinoses are autosomal recessive and are genetically independent. At least 14 genes containing nearly 400 mutations underlying human Neuronal Ceroid Lipofuscinoses have been identified. Most of the mutations are associated with a typical disease phenotype, but some result in variable disease onset, severity and progression.

Pathophysiology

Precise pathogenesis and etiology of this group of diseases remain obscure. The common defect underlying all neuronal ceroid lipofuscinoses affects lysosomal function characterized by intralysosomal accumulation of an autofluorescent lipopigment (protein, either subunit c of mitochondrial ATP synthase or SAPs A and D) in the perikaryon of different neuronal cell types in granula, curvilinear, or fingerprint patterns. Evidence from biochemical and cell biology studies indicates related lesions in intracellular vesicle trafficking and lysosomal function. Clinically, this results in a profound degenerative impact on the central nervous system. In addition to the diseases outlined, numerous atypical variants indicated in the classification of neuronal ceroid lipofuscinoses account for approximately 10 to 20% of patients. Several eponymous names are associated with these disorders, which are sometimes collectively known as Batten disease.

Diagnosis

Young patients with gradual onset of blindness and neurologic signs, retinitis pigmentosa, and epilepsy should ...

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