CLN11 disease

Definition

A rare neuronal ceroid lipofuscinosis characterized by adulthood-onset (13-25 years-few exceptions of earlier onset were reported) retinal dystrophy (notably retinitis pigmentosa), and cerebellar ataxia with progressive cerebellar atrophy. Generalised tonic-clonic epilepsy, myoclonus, dystonia and cognitive decline are frequently observed whereas visual hallucinations, pyramidal syndrome and parkinsonism may be present in some patients. Disease progression may be slower compared to other ceroid lipofuscinosis diseases.