Pigmentary Type of Orthochromatic Leukodystrophy with Early Onset and Protracted Course

Seiser, Andreas; Jellinger, K. A.; Brainin, Michael

doi:10.1055/s-2008-1071458

Cited by 15 publications

(7 citation statements)

References 5 publications

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“…In contrast to this case extensive cerebellar white matter disease has been reported 5 as has Purkinje cell loss. 4 Although myelin loss may be severe, the white matter cavitation observed in this case is unusual for this disease; 1 although it is well documented in simple OLD, but the presence of pigmented glia in this case rules out the latter diagnosis. The presence of cortical gliosis in the face of mild neuronal depletion and absence of reactive changes in the cell bodies suggests that the white matter injury is a very slowly evolving process.…”

Section: Le Journal Canadien Des Sciences Neurologiquesmentioning

confidence: 83%

“…As in this patient, extrapyramidal motor symptoms including cogwheel rigidity 3 or cerebellar ataxia 4,5 may be prominent early on, although pyramidal tract syndromes may be more frequent. 6,7 The age of onset is variable; the earliest symptomatic age is at birth 4 while other patients were not symptomatic until the fifth decade of life. 1 Most do not present before the third decade.…”

Section: Discussionmentioning

confidence: 99%

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A Rare Form of Adult Onset Leukodystrophy: Orthochromatic Leukodystrophy with Pigmented Glia

Shannon

Wherrett

Nag

1997

Can. j. neurol. sci.

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Background: Orthochromatic leukodystrophy with pigmented glia and scavenger cells is a rare leukodystrophy of unknown etiology. This report describes a 42-year-old man with a history of depression, dementia and parkinsonism having the pathological features of orthochromatic leukodystrophy with pigmented glia. Methods: We reviewed the clinical history and pathology of autopsy and brain biopsy material. Results: Imaging revealed bilateral cerebral white matter hypodensities. At autopsy, the brain demonstrated a leukodystrophy affecting predominantly the cerebral hemispheres and characterized by demyelination, and cytoplasmic pigment deposits in oligodendroglia and astrocytes. The pigment had the staining properties of ceroid-lipofuschin and on ultrastructural examination was composed of membrane-bound lipid and electron-dense inclusions which had a fingerprint-like pattern. Similar pigment inclusions were not observed on ultrastructural examination of renal, splenic or hepatic tissue obtained at autopsy. The brain biopsy contained cerebral cortex with sparse subcortical white matter in which a few oligodendroglia and fewer astrocytes at the grey/white junctions showed cytoplasmic pigmentary inclusions identical to those described above. However, due to the paucity of white matter in the specimen a definite diagnosis of orthochromatic leukodystrophy with pigmented glia was not made. Conclusions:The diagnosis of orthochromatic leukodystrophy with pigmented glia and scavenger cells can only be made antemortem if the brain biopsy contains adequate white matter and although a rare condition, it should be considered in the differential diagnosis of an adult onset leukodystrophy. RESUME: Une forme adulte rare de leucodystrophie: la leucodystrophie orthochromatique avec nevroglie pigmentee. Introduction: La leucodystrophie orthochromatique avec presence de nevroglie pigmentee et de phagocytes est une leucodystrophie rare d'etiologie inconnue. Methodes: Nous decrivons le cas d'un homme de 42 ans qui avait une histoire de depression, de demence et de parkinsonisme ayant les caracteristiques anatomopathologiques de la leucodystrophie orthochromatique avec cellules pigmentees. Nous revisons l'histoire clinique et l'anatomopathologie des tissus preleves a l'autopsie ainsi que du materiel obtenu par biopsie. Resultats: L'imagerie a revele des zones hypodenses de la substance blanche dans les deux hemispheres. A l'autopsie, le cerveau presentait une leucodystrophie atteignant surtout les hemispheres et caracterisee par une demyelinisation et des depots cytoplasmiques de pigment dans I'oligodendroglie et dans les astrocytes. Le pigment avait les proprietes tinctoriales de la ceroid-lipofuscine et Pexamen ultra structural a montre qu'il etait compose de lipides lies a la membrane et d'inclusions opaques aux electrons qui avaient un motif d'empreinte digitale. Des inclusions de pigment similaires n'ont pas ete observees a l'examen ultra structural de tissu renal, splenique ou hepatique obtenu a l'autopsie. La biopsie du c...

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Section: Le Journal Canadien Des Sciences Neurologiquesmentioning

confidence: 83%

Section: Discussionmentioning

confidence: 99%

A Rare Form of Adult Onset Leukodystrophy: Orthochromatic Leukodystrophy with Pigmented Glia

Shannon

Wherrett

Nag

1997

Can. j. neurol. sci.

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“…23 However, several authors have consistently reported markedly reduced number of oligodendroglial cells, particularly at the periphery of white matter lesions in HDLS and in POLD cases. 6,24 These findings suggest a primary oligodendroglialopathy, with secondary myelin and axonal damage. This view is further supported by the reactive rather than dystrophic aspect of axonal spheroids.…”

mentioning

confidence: 94%

“…[28][29][30][31][32][33][34] Similarly, most of the patients with POLD reported so far are sporadic. 1,19,22,24,[35][36][37][38][39][40][41] Until the genetic basis for familial aggregation is identified, it remains unknown whether these sporadic cases truly are sporadic or reflect reduced disease penetrance. Conversely, the genetic cause of POLD and HDLS may include the interplay of several genetic factors, some of which may be lacking in sporadic cases.…”

mentioning

confidence: 99%

Leukoencephalopathy with spheroids (HDLS) and pigmentary leukodystrophy (POLD)

Wider¹,

Gerpen²,

DeArmond³

et al. 2009

Neurology

104

118

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Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS) and familial pigmentary orthochromatic leukodystrophy (POLD) present as adult-onset dementia with motor impairment and epilepsy. They are regarded as distinct diseases. We review data from the literature that support their being a single entity. Apart from a slightly older age at onset, a more rapid course, and more prominent pyramidal tract involvement, familial POLD is clinically similar to HDLS. Moreover, the pathologic hallmarks of the two diseases, axonal spheroids in HDLS and pigmented macrophages in POLD, can be identified in both conditions. This supports HDLS and POLD being referred collectively as adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP).

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“…5c). The fingerprint profiles, solid, lamellar or rectangular inclusions, noted in previous reports were not observed (Seiser et al , 1989).…”

Section: Electron Microscopymentioning

confidence: 99%

Adult onset pigmentary orthochromatic leukodystrophy with ovarian dysgenesis

Verghese¹,

Weidenheim

Malik

et al. 2002

Euro J of Neurology

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Pigmentary type of orthochromatic leukodystrophy (POLD) is an adult-onset leukodystrophy, characterized pathologically by the presence of glial and microglial cytoplasmic pigment inclusions. The complete phenotype, genotype and pathogenetic mechanisms in POLD have not been elucidated. We followed for 18 years a woman with autopsy-proven POLD, who presented with 'frontal' dementia and spasticity. Her further course was marked by progressive mutism, apraxia and seizures. Her sister had died of the same disease after a much more rapidly progressing course. These sisters had primary infertility with pathologic evidence of streak ovaries. Diagnosis was confirmed in both cases by post-mortem examination. POLD is a rare cause of adult-onset leukodystrophy presenting with dementia. Ovarian dysgenesis is extremely rare in the absence of demonstrable chromosomal abnormalities and extends the clinical spectrum of POLD.

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Pigmentary Type of Orthochromatic Leukodystrophy with Early Onset and Protracted Course

Cited by 15 publications

References 5 publications

A Rare Form of Adult Onset Leukodystrophy: Orthochromatic Leukodystrophy with Pigmented Glia

A Rare Form of Adult Onset Leukodystrophy: Orthochromatic Leukodystrophy with Pigmented Glia

Leukoencephalopathy with spheroids (HDLS) and pigmentary leukodystrophy (POLD)

Adult onset pigmentary orthochromatic leukodystrophy with ovarian dysgenesis

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