Klinische, pathologisch-anatomische und genealogische Untersuchung einer sp�t-adulten Leukodystrophie

Oepen, Heinrich

doi:10.1007/bf00940741

Cited by 11 publications

(2 citation statements)

References 7 publications

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“…Therefore, both the exact mechanism of demyelination and of lipopigment storage in the pigmentary type of OLD remain unknown. The supposed metabolic abnormality causing myelin degeneration seems to be specific for this disorder, because no family presenting both simple-type OLD and pigmentary type of OLD has been reported (1,14,28).…”

Section: Discussionmentioning

confidence: 99%

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Pigmentary Type of Orthochromatic Leukodystrophy with Early Onset and Protracted Course

Seiser

Jellinger²,

Brainin³

1990

Neuropediatrics

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The pigmentary type of orthochromatic leukodystrophy (OLD) is a rare disorder in adults; only one questionable childhood case has been observed. We report the sporadic case of a male aged 26 years with early onset and protracted course. He presented retarded motor development from birth with ataxic gait and, at age 13 years, developed progressive mental and neurologic deterioration with tetraparesis, ataxia and seizures and died in a disabled, mute state. Repeated CT scans showed progressive diffuse cerebral atrophy and low density of the hemispheric white matter. Autopsy revealed OLD with pigmented macrophages and glial cells, ultrastructurally showing storage of lipofuscin and ceroid with multilamellar bodies or finger-print profiles. Abnormal cytoplasmic inclusions in reduced oligodendroglial cells suggest demyelination due to a primary defect of oligodendroglia in this rare disorder.

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Section: Discussionmentioning

confidence: 99%

“…confirmed lesions have been reported, some of them familial (1,14,15,26,28), others sporadic (4, 7-9, 16,20,22,23,29). The onset varies from the second to the fourth decade, and its progressive, fatal course from 1 to 13 years.…”

mentioning

confidence: 99%

Pigmentary Type of Orthochromatic Leukodystrophy with Early Onset and Protracted Course

Seiser

Jellinger²,

Brainin³

1990

Neuropediatrics

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Extensive cerebral white matter abnormality without clinical symptoms: A new hereditary condition?

et al. 1999

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A 30‐year‐old father and his 2 sons with slight hyperkinesia and mildly dysmorphic features and their close relatives were examined clinically and with computed tomography (CT) and magnetic resonance imaging (MRI). Neurophysiological and biochemical examinations were normal; however, brain MRI of the father and sons revealed extensive cerebral white matter changes. No radiological progression could be detected at a 13‐year follow‐up examination of the father, and proton magnetic resonance spectroscopy (MRS) of the father at the age of 30 years was normal. MRI findings in the relatives were normal, suggesting an autosomal dominant syndrome due to a new mutation in the father. Ann Neurol 1999;45:801–805

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The dominant form of the pigmentary orthochromatic leukodystrophy

Constantinidis

Wisniewski

1991

Acta Neuropathol

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The present report documents a family with three cases in two successive generations of pigmentary orthochromatic leukodystrophy (POLD). The clinical features of these cases and histochemical and ultrastructural investigations of two of the brains from successive generations are discussed. A review of the familial cases of POLD reported in the literature is also presented. Transmission of these cases was by a dominant inheritance. Onset of the clinical symptoms occurred at 42 to 54 years of age; duration of the disease was from 2-11 years, and death occurred at 45 to 57 years of age. Clinical manifestations of all three cases were severe headaches; bilateral pyramidal, pseudobulbar, cerebellar, and frontal release signs; gait disturbances; euphoria, or apathy; epileptic seizures; and dementia. The neuropathological pattern consists of slight cerebral atrophy, brownish discoloration of the cerebral white matter with demyelination and severe gliosis, sparing the sub-cortical U fibers; presence in the macrophages of lipid pigment granules that are sudanophilic, non metachromatic, and PAS and iron positive. The electron microscopic pattern of the lipid pigment in the macrophages is that of ceroid: electron-dense, membrane-bound intracytoplasmic lysosomes with curvilinear and/or fingerprint profiles.

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Klinische, pathologisch-anatomische und genealogische Untersuchung einer sp�t-adulten Leukodystrophie

Cited by 11 publications

References 7 publications

Pigmentary Type of Orthochromatic Leukodystrophy with Early Onset and Protracted Course

Pigmentary Type of Orthochromatic Leukodystrophy with Early Onset and Protracted Course

Extensive cerebral white matter abnormality without clinical symptoms: A new hereditary condition?

The dominant form of the pigmentary orthochromatic leukodystrophy

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