Luyso-pallido-nigral atrophy and amyotrophic lateral sclerosis

Gray, F; Eizenbaum, J F; Gherardi, R; Degos, Jean‐Denis; Poirier, Jean‐Paul

doi:10.1007/bf00698300

Cited by 45 publications

(37 citation statements)

References 8 publications

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“…Nevertheless, in the occasional patient an isolated involvement of pallidum and pyramidal system matching a PPD might be found. Our study, however, suggests that these particular patients probably do not suffer from Davison's idiopathic PPD/S but that further investigations or follow‐up will ultimately deliver the correct diagnosis similar to the reported cases in which Davison's PPD/S was initially considered, but eventually excluded after further investigaton 57, 58, 63, 67, 68. Further studies in patients with Kufor‐Rakeb disease and FBXO7 mutations have to provide an answer to the question whether pallidopyramidal degeneration does exist in these cases.…”

Section: Resultssupporting

confidence: 61%

Pallidopyramidal disease: A misnomer?

et al. 2010

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The combination of recessive early-onset parkinsonism and pyramidal tract signs caused by pallidopyramidal degeneration is known as pallidopyramidal disease or syndrome (PPD/S). We investigated whether patients diagnosed as Davison's PPD/S showed any definite proof of pyramidal and pallidal involvement, without findings suggestive of other nosological entities. Since Davison's original description, 15 other PPD/S cases have been reported, yet all lack proof of pyramidal or pallidal degeneration. Because of the dopa-responsiveness in all patients subsequent to Davison's report, we argue that these patients probably suffered from early-onset nigral parkinsonism or dopa-responsive dsystonia, rather than pallidal parkinsonism; in such cases, the presumed pyramidal Babinski could be a pseudobabinski ("striatal toe"). Secondary pallidopyramidal syndromes do occur, for example, in multiple system atrophy or Wilson's disease, but in these patients additional findings indicate diseases other than Davison's PPD/S. We conclude that the existence of PPD/S as a distinct clinico-pathological nosological entity, as proposed by Davison, is doubtful. In cases reported as Davison's PPD/S, the description "pallidopyramidal" seems to be a misnomer.

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Section: Resultssupporting

confidence: 61%

Pallidopyramidal disease: A misnomer?

et al. 2010

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“…Our case had no familial history, and gait disturbance was the initial symptom, observed at the age of 68, and died after a 3‐year evolution of the disease. In the eight cases, family histories were reported in the two early‐onset cases (onset at the age of 29 and 32) . A patient reported by Kato et al developed the disease at the age of 20 with an unusually long, 31‐year disease duration .…”

Section: Discussioncontrasting

confidence: 58%

“…Degeneration can spread widely in ALS cases after long‐term survival with artificial respiratory support. Motor neuron diseases with PNLD are rare, and the number of reported cases is limited . Although the precise frequency remains unclear, Piao et al reported that PNL degeneration was observed in two cases among the 102 autopsied ALS cases .…”

Section: Discussionmentioning

confidence: 99%

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Pathological and immunoblot analysis of phosphorylated TDP‐43 in sporadic amyotrophic lateral sclerosis with pallido‐nigro‐luysian degeneration

et al. 2017

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Transactivation response DNA-binding protein 43 kDa (TDP-43) is a key protein of sporadic amyotrophic lateral sclerosis (ALS), and phosphorylated form of TDP-43 (p-TDP-43) is a major pathological protein that accumulates in sporadic ALS. p-TDP-43 is found not only in primary motor neurons, but often propagates to non-motor systems as well. However, pallido-nigro-luysian (PNL) degeneration (PNLD) is rarely associated with ALS. We describe here a 68-year-old ALS patient presenting severe PNLD. He had difficulty walking due to poor movement of his right leg, and was diagnosed as having Parkinson's disease because of akinesia. About 2 years after onset, weakness of his left hand and leg led to a diagnosis of ALS. Tube feeding and non-invasive positive-pressure ventilation were initiated. He died of respiratory failure at the age of 71. There was no family history of either neurological disorders or dementia. Neuropathological examination revealed severe loss of neurons and gliosis in the PNL system in addition to the upper and lower motor neuron system. p-TDP-43 pathology was widespread in the PNL and motor neuron systems and also in the amygdala and hippocampus where no significant gliosis or neuronal loss was detected. Synuclein pathology was not observed in the investigated areas. Immunoblot analysis of p-TDP-43 C-terminal fragments showed a type B band pattern consistent with sporadic ALS. This is the first case of ALS with PNLD, in which p-TDP-43 distribution was widespread in the hippocampal formation (Nishihira type 2 and Brettschneider stage 4), and the type B immunoblot pattern was confirmed. Our case indicated that the PNL system can be involved in the disease process in sporadic ALS cases, although rarely. We also reviewed previous autopsy cases of ALS with PNLD to clarify the clinicopathological features.

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“…However, the PNLA described here represents simple multisystem degeneration manifested by neuronal loss and gliosis, without tau, α–synuclein, or polyglutamine accumulation. Association of PNLA with ALS (or MND) has been described in several cases 21–26 . We found two examples in a series of 102 autopsy‐confirmed cases of sporadic ALS, in which spinal anterior horn ubiquitin‐positive inclusions were present, but no dementia, extrapyramidal symptoms, or cortical ubiquitin‐positive inclusions 27 .…”

Section: Discussionmentioning

confidence: 76%

Is motor neuron disease‐inclusion dementia aforme frusteof amyotrophic lateral sclerosis with dementia? An autopsy case further supporting the disease concept

Toyoshima

Tan

Kozakai³

et al. 2005

Neuropathology

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We report the autopsy findings of a 62-year-old man who exhibited progressive FTD 10 years before the appearance of muscle weakness and wasting, and who died approximately 11 years after onset of the symptoms. Degeneration and atrophy of the frontal and temporal lobes, which contained ubiquitin-positive neuronal inclusions and dystrophic neurites, were evident. Circumscribed degeneration affecting the hippocampal CA1-subiculum border zone was also a feature. Moreover, degeneration was present in both the upper and lower motor neuron systems, the latter being more severely affected. A few lower motor neurons were found to contain the cytoplasmic inclusions characteristic of ALS (i.e. Bunina bodies and ubiquitin-positive skeins). Also of interest was the presence of pallidonigroluysian atrophy, which appeared to be responsible for the chorea-like involuntary movements that developed in this patient approximately 2 months before death. The clinical and pathological features of our patient further support the idea that motor neuron disease-inclusion dementia (MND-ID), which has been classified as a pathological subgroup of FTD, is a forme fruste of ALS with dementia. In other words, if patients with MND-ID live long enough, they may develop ALS.

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Luyso-pallido-nigral atrophy and amyotrophic lateral sclerosis

Cited by 45 publications

References 8 publications

Pallidopyramidal disease: A misnomer?

Pallidopyramidal disease: A misnomer?

Pathological and immunoblot analysis of phosphorylated TDP‐43 in sporadic amyotrophic lateral sclerosis with pallido‐nigro‐luysian degeneration

Is motor neuron disease‐inclusion dementia aforme frusteof amyotrophic lateral sclerosis with dementia? An autopsy case further supporting the disease concept

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