Significance of muscle biopsies in neuronal ceroid-lipofuscinoses.

1975/10/01 by H H Goebel, H. Goebel, W Zeman +3 · 3 citations
Medicine · #Lysosomal Storage Disorders Research #Glycogen Storage Diseases and Myoclonus #Trypanosoma species research and implications

paper · pdf · doi:10.1136/jnnp.38.10.985

Abstract

Muscle specimens obtained at necropsy from four cases of neuronal ceroid-lipofuscinosis (NCL), three of the juvenile and one of the late infantile type, and a muscle biopsy from a fifth patient with the juvenile type of NCL, all showed curvilinear bodies typical of NCL within the muscle fibres. The pigments were autofluorescent. It appears that skeletal muscle is a reliable tissue source for the diagnosis of these disorders by biopsy.

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• Extraneuronal pathology in a canine model of CLN2 neuronal ceroid lipofuscinosis after intracerebroventricular gene therapy that delays neurological disease progression. [europepmc]
• Autophagic vacuolar myopathy is a common feature of CLN3 disease. [europepmc]
• Guidelines on the diagnosis, clinical assessments, treatment and management for CLN2 disease patients. [europepmc]

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