Literature DB >> 183173

[Generalized infantile neuroaxonal dystrophies with pigmentation and lipophanerosis of the pallidum in concordant twins (author's transl)].

J Peiffer, N Brunner, R F Landolt, G Müller, W Schlote.   

Abstract

Monozygotic male twins died at the age of 6 1/2 and 7 1/2 years respectively after a progressive course of mental deterioration, hypotonia, spasticity, optic atrophy and seizures that had commenced at the age of 2 years. Both patients showed generalized neuroaxonal dystrophy (NAD), marked by numerous spheroids, iron-positive pigment and lipophanerosis of the pallidum. NAD can be classified as a generalized form without pigmentation of the pallidum (infantile type of Seitelberger), a juvenile type of Rozdilsky, a generalized form with pigmentation (cases described here), and localized forms (infantile, late infantile, juvenile = classic Hallervorden-Spatz disease, adult types).

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Year:  1976        PMID: 183173     DOI: 10.1055/s-0028-1091634

Source DB:  PubMed          Journal:  Neuropadiatrie        ISSN: 0028-3797


  2 in total

1.  Diagnosis of juvenile-adult form of neuroaxonal dystrophy by electron microscopy of rectum and skin biopsy.

Authors:  G Schwendemann; G Arendt; J Noth; H W Lange; W Strauss
Journal:  J Neurol Neurosurg Psychiatry       Date:  1987-06       Impact factor: 10.154

2.  Generalized giant axonal neuropathy: a filament-forming disease of neuronal, endothelial, glial, and schwann cells in a patient without kinky hair.

Authors:  J Peiffer; W Schlote; A Bischoff; E Boltshauser; G Müller
Journal:  Acta Neuropathol       Date:  1977-11-28       Impact factor: 17.088

  2 in total

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