Infantile neuroaxonal dystrophy.

Crome, L.; Weller, S. D. V.

doi:10.1136/adc.40.213.502

Cited by 21 publications

(3 citation statements)

References 3 publications

(1 reference statement)

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“…An inverse relationship is possible and it may not be excluded that the VTS are in fact malformations of the SV. This is also suggested by H arman et al [1969] and others [Mugniani et al, 1967;Ramsey, 1967;G onatas et al, 1967a], Only swellings of type 1 show morphological similarities with changes observed in other diseases or experimental conditions, such as experi mental vitamin E deficiency [Pentschew et al, 1962;Lampert et al, 1964aLampert et al, , 1964b, INAD [Herman et al, 1969;Hedley-White et al, 1968;Cowen et al, 1963;Crome et al, 1965;Lyon et al, 1963;Sand bank, 1965], Alzheimer's dementia [Gonatas et al, 1967a], degenerat ing and regenerating axons [Lampert, 1967;BlBmcke et al, 1966], etc., but in our case (5'/2-year-old patient) other types of swellings are found, which do not have any similarity with other swellings.…”

Section: Discussionsupporting

confidence: 51%

Electron Microscopical Study of Neuroaxonal Dystrophy

Coster¹,

Roels²,

Eecken³

1971

Eur Neurol

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A case of a 5½-year-old patient with psycho-motor retardation is presented. It is studied by a cortico-subcortical biopsy of the right frontal lobe, by light and electron microscopy. Paraffin embedded material shows no alterations, but distinct presynaptic and axonal swellings are seen in plastic embedded material. Three morphological types of swelling are described, with increasing dimensions and decreasing number. We have suggested a metabolic disturbance which results in a storage of vesiculo-tubular-structures (which might be malformations of synaptic vesicles), with a chronological evolution of the axonic swelling, going from type 1 to type 3.

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Section: Discussionsupporting

confidence: 51%

Electron Microscopical Study of Neuroaxonal Dystrophy

Coster¹,

Roels²,

Eecken³

1971

Eur Neurol

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“…Extrapyramidal signs are un common in IND as pointed out also by Huttenlocher [4] and have so far only been observed in cases of Hallervorden-Spatz disease. Myoclonic seizures have been observed also by Crome and Weller [3].…”

Section: Discussionmentioning

confidence: 49%

Infantile Neuroaxonal Dystrophy

Kohn¹,

Mundel²,

Wallis³

1970

Stereotact Funct Neurosurg

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Four cases of infantile neuroaxonal dystrophy (a familial progressive disorder of the central nervous system) are presented with clinical and pathological findings. The clinical picture is characterized by a fairly normal development of the children up to about one year of age when a standstill and regression of motor and psychic development became apparent. Some children develop a marked generalized hypotonia, others a spasticity. Optic nerve atrophy is usually another early clinical sign. Pathologically a marked cerebellar atrophy and the occurrence of so-called ''speroid bodies'' are characteristic; the latter are signs of neuroaxonal degeneration. One of the patients presented here showed extrapyramidal signs which so far have not been seen in infantile neuroaxonal dystrophy.

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“…-Chemical studies in INAD are few and fragmentary. Crome and Weller,9 in an 18-month-old boy with INAD, found a normal phospholipid pattern and a decrease in cerebrosides which were attributed to the presence of fibrous gliosis and a relative deficiency of myelin in the sampled material. Ellis et al,16 examin¬ ing the brain of a 2-year-old girl, found the gangliosides decreased by 75% with a rela¬ tive increase in polysialogangliosides, not accounted for by anoxia and preservation of the specimen in neutral formaldehyde solu¬ tion for two months.…”

Section: Commentmentioning

confidence: 93%

Infantile Neuroaxonal Dystrophy

Haberland¹

1972

Arch Neurol

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Neuropathological and biochemical studies were done of a 91/2-year-old girl with a sporadic form of infantile neuroaxonal dystrophy (INAD). The characteristic histopathological features were the following: (1) presence of eosinophilic spheroids in the central, peripheral, and autonomic nervous systems; (2) pallido-striato-nigral iron-containing pigmentary deposits; (3) cerebellar degeneration; and (4) associated neuronal, myelin, and glial changes. The biochemical analysis of the gray matter revealed a normal ganglioside level and composition, a reduction of glycoprotein-carbohydrate content with no alteration in the composition of the heteropolysaccharide chains of higher molecular weight, and a reduced level of glycosaminoglycans. The white matter chemical abnormalities consisted of a marked reduction in cerebrosides and minor abnormalities in the composition of gangliosides and dialyzable glycopeptides. Various views on the origin and possible pathomechanisms underlying the neuroaxonal dystrophy are entertained.

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Infantile neuroaxonal dystrophy.

Cited by 21 publications

References 3 publications

Electron Microscopical Study of Neuroaxonal Dystrophy

Electron Microscopical Study of Neuroaxonal Dystrophy

Infantile Neuroaxonal Dystrophy

Infantile Neuroaxonal Dystrophy

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