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Neuronal intranuclear inclusion disease in identical twins
Author(s) -
Haltia Matti,
Somer Hannu,
Palo Jorma,
Johnson William G.
Publication year - 1984
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.410150403
Subject(s) - inclusion bodies , motor neuron , pathology , cytoplasmic inclusion , ganglion , eosinophilic , disease , biology , anatomy , neuroscience , medicine , cytoplasm , microbiology and biotechnology , biochemistry , escherichia coli , gene
A pair of female identical twins exhibited slurred speech, nystagmus, and oculogyral spasms starting at age 11. The patients then had episodic rage, extrapyramidal and lower motor neuron abnormalities, and grand mal seizures, but retained largely normal intelligence, until death at age 21. Severe loss of nigral and craniospinal motor neurons was noted postmortem. Round, eosinophilic, autofluorescent inclusion bodies, 3 to 10 μm in diameter, were observed in the nuclei of mmilanost nerve cell types of the central and peripheral nervous systems and retina. Ultrastructurally the inclusions appeared as masses of filaments without a limiting membrane, the constituent filaments having a diameter of 8.5 to 9.5 nm. Histochemical results suggested the presence of proteins with a high content of tryptophan. Four similar cases have been reported previously under various designations. We propose the name neuronal intranuclear inclusion disease for the disorder.