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Neuronal intranuclear inclusion disease
Author(s) -
Haltia Matti,
Tarkkanen Ahti,
Somer Hannu,
Palo Jorma,
Karli Hillevi
Publication year - 1986
Publication title -
acta ophthalmologica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.534
H-Index - 87
eISSN - 1755-3768
pISSN - 1755-375X
DOI - 10.1111/j.1755-3768.1986.tb00680.x
Subject(s) - ganglion , retina , optic nerve , inclusion bodies , astrocytosis , pathology , medicine , retinal , subclinical infection , anatomy , neuroscience , central nervous system , biology , ophthalmology , biochemistry , escherichia coli , gene
Monozygotic twin sisters were afflicted by a chronic progressive neurological disease characterized by slurred speech, nystagmus and oculogyral spasms as well as further extrapyramidal and lower motor neuron abnormalities. At autopsy severe loss of nigral and craniospinal motor neurons was noted. In the nuclei of most nerve cell types of the central and peripheral nervous system, roundish inclusion bodies of 3 to 10 μm in diameter were found. Ocular pathology revealed the presence of identical inclusion bodies in the ganglion cells and ganglion cell loss in the posterior retina. Retinal astrocytosis and loss of myelinated axons of the optic nerve were interpreted as reactive features. No inclusions were found in the retinal pigment epithelium. Careful neuro‐ophthalmological studies of the first‐degree relatives revealed low b‐wave of the ERG with other slight aberrations. These were assumed to represent either a carrier or a subclinical state of this presumably inherited disorder.