The Protracted Form of Juvenile Neuronal Ceroid-lipofuscinosis

Overview

Journal Acta Neuropathol

Specialty Neurology

Date 1976 Dec 21

PMID 189559

Citations 7

Authors

H H Goebel

H Pilz

F Gullotta

Affiliations

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Abstract

Clinical and ultrastructural findings consisting of curvilinear and fingerprint residual bodies, in a protracted juvenile form of NCL are reported from a woman who died at the age of 35 years. Homochrony and homotypy of her brother's illness emphasize intrafamilial similarities within subgroups of lysosomal disorders.

Citing Articles

Autophagic vacuolar myopathy is a common feature of CLN3 disease.

Radke J, Koll R, Gill E, Wiese L, Schulz A, Kohlschutter A Ann Clin Transl Neurol. 2018; 5(11):1385-1393.

PMID: 30480032 PMC: 6243389. DOI: 10.1002/acn3.662.

Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses.

Mole S, Williams R, Goebel H Neurogenetics. 2005; 6(3):107-26.

PMID: 15965709 DOI: 10.1007/s10048-005-0218-3.

The neuronal ceroid-lipofuscinoses. Recent advances.

Goebel H, Sharp J Brain Pathol. 1998; 8(1):151-62.

PMID: 9458173 PMC: 8098143. DOI: 10.1111/j.1750-3639.1998.tb00142.x.

Protracted juvenile neuronal ceroid-lipofuscinosis.

Goebel H J Inherit Metab Dis. 1993; 16(2):233-6.

PMID: 8411968 DOI: 10.1007/BF00710252.

Autofluorescence emission spectra of neuronal lipopigment in a case of adult-onset ceroidosis (Kufs' disease).

Dowson J Acta Neuropathol. 1983; 59(4):241-5.

PMID: 6868957 DOI: 10.1007/BF00691488.

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