[EEG in infantile neuroaxonal dystrophy and Hallervorden-Spatz disease].

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    ABSTRACT: The autonomic nervous system is studied by electron microscopy for the first time in two siblings born of North African consanguineous parents and affected by infantile neuroaxonal dystrophy. The changes already reported in dystrophic axons of the central and peripheral nervous system, are seen in the myenteric plexus of rectum mucosa. The authors stress the diffuse involvement of the nervous tissue in this degenerative disorder of still unknown nature.
    Acta Neuropathologica 08/1974; 28(3):261-267. DOI:10.1007/BF00719031 · 9.78 Impact Factor
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    ABSTRACT: Primary torsion dystonia is an idiopathic movement disorder presumably caused by abnormal function of the basal ganglia. The disorder may be inherited either as an autosomal dominant, autosomal recessive, or X-linked recessive trait. At least six forms of autosomal dominant torsion dystonia can be distinguished clinically. Linkage analysis in one form of autosomal dominant torsion dystonia permits the assignment of a "torsion dystonia locus" to the long arm of chromosome 9.
    Human Genetics 02/1990; 84(2):107-15. DOI:10.1007/BF00208922 · 4.52 Impact Factor
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    ABSTRACT: We describe 2 brothers with progressive myoclonus epilepsy that began in the second decade and was associated with cerebellar ataxia and intellectual deterioration. Electroencephalographic and cerebral evoked potential studies showed findings associated with myoclonus epilepsy. Neuropathological examination of 1 of the brothers, who died at age 23 years, revealed widespread changes of neuroaxonal dystrophy without pigment deposition in the basal ganglia. We propose the term juvenile neuroaxonal dystrophy (JNAD) to distinguish this condition on clinical grounds from infantile neuroaxonal dystrophy on the one hand, and on clinical and pathological grounds from Hallervorden-Spatz disease on the other hand. JNAD, while exceedinly rare, must be considered in the differential diagnosis of the progressive myoclonus epilepsies.
    Annals of Neurology 05/1978; 3(5):419-28. DOI:10.1002/ana.410030511 · 11.91 Impact Factor