Adult Type of Neuronal Ceroid Lipofuscinosis

Abstract

Adult neuronal ceroid lipofuscinosis (NCL), also called Kufs'' disease, is clinically distinct from the other NCLs. It is a rare condition which is difficult to diagnose. More than 50% of the reported cases of Kufs'' disease are not adult NCL and correspond very likely to a heterogeneous spectrum of lipidoses. Various clinical and genetic phenotypes of adult NCL may be recognized, one featuring a progressive myoclonus epilepsy. It is important to stress that in contradistinction with the juvenile and protracted juvenile NCL, there is no pigmentary degeneration of the retina. Adult NCL is an autosomal recessive condition but two families have an autosomal dominant inheritance.

Adult-onset autosomal recessive ataxia with thalamic lesions in a Finnish family

“…24 No accumulation suggesting polyglucosan body disease was observed on sural nerve biopsy, 29 and the adult form of ceroid lipofuscinosis does not fit well clinically because no lipopigment was observed in neurons at brain autopsy. 30 Lack of increase in serum lactate, pyruvate, and cerebrospinal lactate levels, absence of ragged-red and cytochrome c oxidase-negative fibers on muscle biopsy, lack of known point mutations (MELAS, MERRF, NARP), and mtDNA deletions in muscle biopsy specimen make mitochondrial diseases unlikely. 31 Autopsy findings are not compatible with typical Leigh's disease.…”

Diagnosis and Pathogenesis of Late-Onset Genetic Metabolic Encephaloneuromyopathies

“…The histological similarities between ALD and MS lesions are well known: the inflammatory lesions of the white matter in ALD resemble those of MS, suggesting that immune mechanisms are involved in the pathogenesis of the degeneration of myelin. The pres ence of oligoclonal bands in the spinal fluid of ALD patients and the identification of immune processes [20,21] along with high tissue concentrations of IgG and IgA found by Berheimer et al [61] and the results of im munohistochemical analysis of cerebral macrophages [62] reinforce these hypotheses. It is likely that a change in lipid metabolism renders the myelin particularly vul nerable, predisposing it to MS. Susceptibility to MS is genetically heterogeneous, in other words not all patients have the same genetic susceptibility.…”

“…The morphologi cal evidence of lysosomal disease consists in finding stor age cells in peripheral blood smears, in myelobiopsy spe cimens, in skin or conjunctival fibrocytes, in Schwann cells or in tissue (liver, muscle, CNS). The material in cluded in the vacuoles can vary [5]: in oligosaccharide or mucopolysaccharide storage diseases it is seen as microgranular electrondense material; in lipidoses, as lamellar material; in ceroid lipofuscinosis it consists of amor phous material often resembling finger prints [21].…”

Myoclonic Epilepsy in Lysosomal Storage Disorders

“…Some patient have been reported as completely free from motor and cognitive signs (Lauronen et al 1999, Jarvela et al 1999). Adult phenotypes are described in NCL1 and in the very rare form of NCL4 (Kukfs disease) (Martin, 1991;Ruchoux & Goebel, 1996). In the NCL1 patients, neurological and mental degeneration, depression, retinal and optic atrophy have been described, while the ocular involvement is not present in NCL4.…”