Diffuse Sclerosis With Preserved Myelin Islands

Löwenberg, K.; Hill, Tim

doi:10.1001/archneurpsyc.1933.02240120055005

Cited by 49 publications

(13 citation statements)

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“…On the other hand, in the three siblings described by Seitelberger (1954), there was an almost complete absence of myelin throughout the brain and spinal cord, though a few patches of preserved fibres were found in the brain of the youngest child. A further variant was the 'adult type' of Lowenberg and Hill (1933) in which a closely-set, flaky form of demyelination gave a mottled appearance. This condition was later shown to be inherited as a dominant by Camp and Lowenberg (1941).…”

mentioning

confidence: 99%

Pelizaeus-Merzbacher disease: a form of sudanophil leucodystrophy

Norman¹,

Tingey²,

Harvey³

et al. 1966

Journal of Neurology, Neurosurgery & Psychiatry

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mentioning

confidence: 99%

Pelizaeus-Merzbacher disease: a form of sudanophil leucodystrophy

Norman¹,

Tingey²,

Harvey³

et al. 1966

Journal of Neurology, Neurosurgery & Psychiatry

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“…However, their cases partly fit the clinical description of Seiterberger's adult-type PMD [18]. This type of PMD shows late onset (in the orginal case of Löwenberg and Hill [11], the patient was taken ill at the age of 43) and a clearly chronic neurological syndrome with psychiatric changes. No nystagmus has been found in this PMD type.…”

Section: Discussionmentioning

confidence: 62%

“…However, this type of PMD is very rare in the literature and has been excluded from the recent classification of PMD [19]. Pathologically, our patients' cases were different from the adult type in the size of demyelinated area; in the adult type, only patchy demyelination has been found [11,18]. However, two other adult male cases have been reported to be pathologically identical to the classical type of PMD at postmortem examinations [4,16].…”

Section: Discussionmentioning

confidence: 84%

Two autopsy cases with Pelizaeus-Merzbacher disease phenotype of adult onset, without mutation of proteolipid protein gene

et al. 2000

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We report the autopsy cases of two brothers which are pathologically compatible with Pelizaeus-Merzbacher disease (PMD). Both patients had a late onset (at the ages of 29 and 42 years) and chronic neurological symptoms including tremor, ataxia and dementia. The T2-weighted magnetic resonance imaging of the younger brother demonstrated increased signal areas with sparing of small areas in the cerebral white matter. The postmortem examinations, obtained at the ages of 45 and 61 years, showed similar neuropathological findings. Histologically, a cardinal finding was a lack of myelin in large parts of white matter with the preservation of islands of intact myelin, resulting in a "tigroid" appearance. Only small amounts of sudanophilic material were present. The axons were relatively well preserved, but oligodendrocytes were numerically reduced. Ultrastructurally, myelin sheaths in the white matter were markedly thin. Immunohistochemistry showed that proteolipid protein (PLP) was reduced in the affected white matter. However, genetic studies did not reveal exonic mutations or duplications of the PLP gene. We conclude that the two cases are a rare type of dysmyelinating disorder with PMD phenotype of adult onset and could be caused by previously unrecognized abnormalities of the PLP gene or other genes.

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“…The family we reported here may well be diagnosed with ADLD on the basis of the inheritance pattern and characteristic MRI findings. Of the 17 families, there was one family with metachromatic leukodystrophy reported by Wright et al [13], four families with PelizaeusMerzbacher disease (Löwenberg-Hill type [1][2][3][4][5][6][7]) and other twelve families with unclassified category. Variant of metachromatic leukodystrophy reported by Wright et al [13] differs from our cases because they primarily presented with peripheral neuropathy with autonomic impairment and a normal arylsulphatase A value.…”

Section: Discussionmentioning

confidence: 99%