Batten's syndrome (Juvenile Neuronal Ceroid Lipofuscinosis)

Neuronal ceroid lipofuscinoses (NCLs), or Batten disease, are a group of devastating and lethal neurodegenerative lysosomal storage diseases that typically affect children. The disease is known to have 14 forms, each resulting from mutations in a distinct gene. Batten's syndrome is a recessively inherited condition caused by abnormal storage of cerebral lipofuscins.

More than a dozen genes containing over 430 mutations underlying human NCLs have been identified. (2)

Batten disease is the most common neurodegenerative disorder in childhood and the worldwide prevalence of Batten disease is approximately 1 in 100,000 live births. (3)

There are a number of other names that are used to refer to this condition, depending on the age of onset:

• Haltia-Santavuori syndrome, for the infantile type
• Jansky-Bielschowsky syndrome, for the late infantile type
• Spielmeyer-Vogt syndrome, for the juvenile type

In addition this condition is sometimes known as familial amaurotic familial idiocy or as lipofuscinosis.

The gene involved in this syndrome is on chromosome 16.

The primary barrier to effectively treating Batten disease is the need for central nervous system (CNS) access and most of the management of NCL focuses on treating the symptoms. Enzyme Replacement Therapy (ERT) with intraventricular recombinant pro-enzyme of TPP-1, i.e. cerliponase alfa, has been approved by the US Food and Drug Administration (FDA) as an enzyme replacement therapy in CLN2 disease. (4)

(Note - although Batten disease was historically regarded as the juvenile form of NCL, some physicians used, and still use, the term "Batten disease" to describe all forms of NCL.)

Reference

1. Rahim AA, Russell C, Mole SE. Special edition: The NCLs/Batten disease. Biochim Biophys Acta Mol Basis Dis. 2020 Sep 01;1866(9):165824
2. Gardner E, Mole SE. The Genetic Basis of Phenotypic Heterogeneity in the Neuronal Ceroid Lipofuscinoses. Front Neurol. 2021;12:754045
3. Ostergaard JR. Juvenile neuronal ceroid lipofuscinosis (Batten disease): current insights. Degener Neurol Neuromuscul Dis. 2016;6:73-83
4. Markham A. Cerliponase Alfa: First Global Approval. Drugs. 2017 Jul;77(11):1247-1249