Adult Onset NCLs

Adult NCL is very rare although affected families have been described from several different countries.

Adult NCL has often been called Kufs disease and doctors recognize two main types – called type A and type B. Unlike the childhood NCLs, vision is not affected in either type. In some families inheritance is recessive but in others a dominant inheritance pattern is seen. Until the genetic basis for the adult NCLs is fully understood, diagnosis is usually dependent on a brain biopsy. It is emerging that several genes can cause adult onset NCL diseases, some of which have been presented at this meeting. Type A presents in early adulthood with a progressive myoclonic epilepsy, ataxia and slow cognitive deterioration over many years. Type B usually presents with an early dementia or evolving movement disorder. Mild mutations in childhood NCL genes may also cause NCL disease with delayed age of onset and slow disease progression but vision is generally affected and abnormal storage is seen more reliably in peripheral tissues.

Adult Onset
Adult onset posters from a recent BDSRA Family Conference Scientific Poster Session

Mole Laboratory: Adult Batten Disease – Mole, Bond, Vieira, Marotta, Holthaus, Ridier, Warrier, Brown

Adult Batten Disease: New Genes, Better Diagnosis – Smith, Dahl, Damiano. Bahlo & Berkovic

What Next?

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