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  • Updated 01.19.2020
  • Released 02.17.1994
  • Expires For CME 01.19.2023

Batten disease


This article includes discussion of Batten disease, Batten-Spielmeyer-Vogt disease, Jansky-Bielschowsky disease, Santavuori-Haltia disease, Kuf disease, infantile neuronal ceroid lipofuscinosis, late infantile neuronal ceroid lipofuscinosis, LINCL, variant of LINCL, juvenile neuronal ceroid lipofuscinosis, adult neuronal ceroid lipofuscinosis, congenital neuronal ceroid lipofuscinosis, and spinocerebellar neuronal ceroid lipofuscinosis. The foregoing terms may include synonyms, similar disorders, variations in usage, and abbreviations.


Batten disease, or neuronal ceroid lipofuscinoses, constitutes one of the most common groups of inherited childhood-onset neurodegenerative disorders. They currently comprise 14 genetically distinct disorders, mostly characterized by progressive cognitive, motor, and visual impairment with onset in childhood, adolescence, and even adulthood. Abnormal autofluorescent, electron-dense granules accumulate in the cytoplasm of nerve cells and are associated with selective destruction and loss of neurons in the brain and retina. There are currently 14 different genes and over 360 mutations that underlie these devastating brain disorders. Gene therapy is the most promising form of therapy that is being developed. The FDA approved therapy for neuronal ceroid lipofuscinosis type 2 (CLN2) disease.

Key points

• Neuronal ceroid lipofuscinoses, or Batten disease, are common neurodegenerative diseases of childhood.

• Typical clinical findings include retinopathy leading to blindness, sleep problems, motor abnormalities, myoclonic seizures, dementia, and premature death.

• Definitive diagnosis relies on enzymatic assays or DNA testing.

• Intraventricular cerliponase alfa for ceroid lipofuscinosis type 2 disease is the first available therapy for specific form of neuronal ceroid lipofuscinosis.

• Kufs disease or adult neuronal ceroid lipofuscinosis can be caused by three different genes and is often misdiagnosed pathologically.

Historical note and terminology

A detailed history of the classification and the pathological and clinical characteristics has been reviewed (32). Neuronal ceroid lipofuscinosis consists of a group of genetically determined neurodegenerative disorders that affect children and adults of both sexes. The original description of the disorder is credited to Stengel, a Danish physician, who identified four children in a family from a rural village in Norway who had onset of visual failure in their sixth year, followed by progressive intellectual decline and loss of speech. Seizures began at 10 years, and they died in their twenties after remaining in a vegetative state for several years (68).

The visual loss and dementia noted in this disease led to its classification as a form of amaurotic familial idiocy, but an appreciation of the pathological differences, biochemical abnormalities, and genetic defects have established neuronal ceroid lipofuscinosis as a nosologic entity. The eponym Batten disease, now often associated with the juvenile form of the disease, is named for Frederick Batten, who, in 1903, described the cerebral and macular changes in two brothers (08). Subsequently, Purkinje cells, gliosis, and the loss of cortical neurons in association with the pathognomonic accumulation of the autofluorescent lipopigments in the remaining neurons were documented and helped to distinguish Batten disease from other mental retardation syndromes (80; 11; 09). Although the clinical features of the juvenile onset form were delineated in great detail (67; 64), the adult variant was not recognized until 1925 (44). The high prevalence of an infantile onset form of Batten disease in Finland was later identified (61), thereby uncovering the clinical spectrum of neuronal ceroid lipofuscinosis. Other subtypes, such as a variant of late infantile neuronal ceroid lipofuscinosis and a congenital form have been described (45; 25). Advances in molecular genetics have led to the discovery of the gene defects for several of the variants (50). The genetics of this group of disorders demonstrates that they are heterogeneous disorders with common pathologic and clinical features (See Table 1). The various subtypes of this disorder are collectively termed neuronal ceroid lipofuscinosis based on the nature of the symptoms and the characteristics of the stored material.

Table 1. Genetic Information of Neuronal Ceroid Lipofuscinosis Variants



Gene Name

Gene Product

Type of Protein


Santavuori-Haltia Hagberg


Palmitoyl protein thioesterase (PPT1)





Cathepsin D


Late infantile



Tripeptidyl peptidase 1 (TPP1)



Batten Vogt-Spielmeyer





Kuf type A



Soluble cysteine string protein alpha


Kuf type B (A)




Late infantile (Finnish)





Late infantile (Portuguese or Costa Rican)





Late infantile (Turkish)



Transporter protein

Transmembrane, lysosomal

Late infantile (northern epilepsy mental retardation), congenital (TLC protein class)




Transmembrane, ER

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