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

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Four types of neuronal ceroid lipofuscinoses are described in the literature. They are characterized by intralysosomal accumulations of autofluorescent lipopigment in various tissues.

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

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Type II: Late Infantile Neuronal Ceroid Lipofuscinosis (Jansky-Bielschowsky Disease; Late Infantile Type of Amaurotic Idiocy; Late Infantile Batten Disease): A few variants of this form of neuronal ceroid lipofuscinosis are determined by the mutation on the gene map locus 15q21-q23. Three variants have been described: (A) neuronal ceroid lipofuscinosis variant 6, which corresponds to mutations in the CLN6 gene; (B) Turkish neuronal ceroid lipofuscinosis variant 8 (also called northern progressive epilepsy with mental retardation syndrome), which is caused by mutation in the CLN8 gene; and (C) Finnish neuronal ceroid lipofuscinosis variant 5, which is caused by mutation in the CLN5 gene.

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Type III: Juvenile Neuronal Ceroid Lipofuscinosis (Infantile Batten Disease; Vogt-Spielmeyer Disease; Amaurotic Familial Idiocy of the Juvenile Type): One genetic variant of the Batten juvenile form of neuronal ceroid lipofuscinosis has been described and consists of the presence of granular osmiophilic deposits (GROD) and the absence of fingerprint curvilinear bodies. Clinically, these patients demonstrate learning disabilities beginning at ages 6 and 10 years but visual failure is delayed until age 14 years.

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Type IV: Adult Neuronal Ceroid Lipofuscinosis (Kufs Disease; Autosomal Recessive Kufs Disease): Autosomal dominant form has been described for the Kufs disease and is characterized by progressive neurodegenerative diseases but absence of ocular involvement.

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1:20,000 in the general population of Finland for early infantile and juvenile forms to 1:150,000 in the general population.

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All neuronal ceroid lipofuscinoses are autosomal recessive and are genetically independent.

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Precise pathogenesis and etiology of this group of diseases are elusive. The common defect underlying all neuronal ceroid lipofuscinoses affects lysosomal function characterized by intralysosomal accumulation of an autofluorescent lipopigment in the perikaryon of different neuronal cell types in granula, curvilinear, or fingerprint patterns. 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.

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Young patients with gradual onset of blindness and neurologic signs, retinitis pigmentosa, and epilepsy should be examined for neuronal ceroid lipofuscinosis. Urinary dolichol level is raised, and biopsy of the skin or conjunctiva demonstrates characteristic lipofuscin storage.

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The early juvenile form results in death within the first decade of life. The later-onset forms are associated with dementia and a slower decline.

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