Significance of muscle biopsies in neuronal ceroid-lipofuscinoses.

Adult ceroid-lipofuscinosis: diagnostic value of biopsies and of neurophysiological investigations.

In a sibship of ten, three brothers presented with an adult form of ceroid-lipofuscinosis. The diagnosis was confirmed by necropsy of the first patient and was made by electron microscopy of eccrine sweat glands and of skeletal muscles in the two others. Somatosensory evoked potentials were characterised by biphasic, nearly monophasic, very high voltage complexes totally unlike those found in n...

Classic late infantile neuronal ceroid lipofuscinosis in a Chinese patient.

Neuronal ceroid lipofuscinoses are a group of rare neurodegenerative disorders that are characterised by an accumulation of autofluorescent lipopigments in neurons and extraneuronal tissues. We report on a 4-year-old boy who presented with an acute onset of seizures followed by rapid psychomotor deterioration, ataxia, and visual failure. Photic stimulation at 1 to 3 Hz elicited discrete spike a...

Neuronal ceroid lipofuscinosis and arthropathy: a family study.

A family is described in which three children have neuronal ceroid lipofuscinosis and two of them also have an arthropathy. Clinically the children have the late infantile form but pathological evidence shows the recognised overlap with the juvenile form. A fourth child with joint involvement but with normal skin biopsies is described. It is suggested that this family have a specific form of ne...

Spastic and myocloni in a childhood neurodegenerative disease – new therapeutic options

The casuistic of a child suffering from late infantile neuronal ceroid lipofuscinosis (NCL) of the type Jansky-Bielschowsky aims to provide a description of possible therapeutic options for the severe spastic and the debilitating myocloni that occur within the context of this disorder. Moreover, it also should include a discussion of potential indications for the application of delta 9-Tetrahyd...

Characterization of Cellular and Molecular Mechanisms in Cellular Models of Neuronal Ceroid Lipofuscinoses Diseases