Familial motor neuron disease with Lewy body-like inclusions in the substantia nigra, the subthalamic nucleus, and the globus pallidus

Tranchant, C.; Dugay, Marie-Hélène; Mohr, Michel; Wasser, Philippe; Warter, Jean‐Marie

doi:10.1016/0022-510x(92)90182-k

Cited by 18 publications

(9 citation statements)

References 24 publications

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“…Machado‐Joseph disease shows familial amyotrophy associated with parkinsonism and spinocerebellar symptoms, and is caused by expansion of trinucleotide repeats in the SCA3 gene on chromosome 14. Other examples of genetic disorders presenting with both pyramidal and extra‐pyramidal symptoms are familial aggregation of motor neuron disease, tic disorder and parkinsonism as a result of neuroacanthosis (162–164), and the autosomal‐dominant inherited entity of parkinsonism and amyotrophy (165–170). A familial ALS‐dementia complex with autosomal‐recessive inheritance was reported in some families, including inbred Old Amish sib‐ships.…”

Section: Major Genesmentioning

confidence: 99%

Genetic epidemiology of amyotrophic lateral sclerosis

2003

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Amyotrophic lateral sclerosis (ALS) is a late onset, rapidly progressive and ultimately fatal neurological disorder, caused by the loss of motor neurons in the brain and spinal cord. Familial aggregation of ALS, with an age-dependent but high penetrance, is a major risk factor for ALS. Familial ALS (FALS) is clinically and genetically heterogeneous. Three genes and linkage to four additional gene loci have been identified so far and may either predominantly lead to ALS (ALSI-ALS6) or cause multisystem neurodegeneration with ALS as an occasional symptom (tauopathies, ALS-dementia complex). This review presents a tentative classification of the "major" ALS genes and ALS "susceptibility" genes, that may act as susceptibility factors for neurodegeneration in interaction with other genetic or environmental risk factors. Considering that mutations in ALS genes explain approximately 10% of familial as well as sporadic ALS, and most remaining cases of the discase are thought to result form the interaction of several genes and environmental factors, ALS is a paradigm for multifactorial discases.

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Section: Major Genesmentioning

confidence: 99%

Genetic epidemiology of amyotrophic lateral sclerosis

2003

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“…Ahmed et al found Lewy bodies and Lewy neurites in the amygdala, 35 whereas Tranchant et al found Lewy body-like inclusions in the anterior horns of the spinal cord, some cranial nerve nuclei, and the GP, SN, and STN. 38 Sudo et al reported ubiquitinated neuronal inclusions in the hippocampus, amygdala, and frontal and temporal cortices. 34 Taupositive argyrophilic structures surrounding glial nuclei and argyrophilic threads appeared in the GP, SN, and STN and other degenerated regions.…”

Section: Resultsmentioning

confidence: 99%

“…19,24,27,28,32,34 Nine postmortem pathological diagnoses (36%) listed coexistent motor neuron disease (MND) or ALS pathology along with PNLA. 21,22,26,31,23,[26][27][28][29][30][31][32][33][34][35][36][37][38][39] Other coexistent pathologies included PSP and PKAN 28 and MND-inclusion disease type frontotemporal dementia. 31 Table 1 documents specific clinical signs or symptoms reported in 3 or more of the 25 cases of PNLA during any time in the course of the disease.…”

Section: Resultsmentioning

confidence: 99%

Clinicopathological review of pallidonigroluysian atrophy

et al. 2012

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Pallidonigroluysian atrophy is a rare neurodegenerative disease characterized by degeneration of the globus pallidus, substantia nigra, and subthalamic nucleus. Few studies have comprehensively documented the clinical and pathological features of pallidonigroluysian atrophy. A systematic review of all published cases of pallidonigroluysian atrophy in English since 1970 was performed. We also report a new case of pallidonigroluysian atrophy. Twenty-five cases of pathologically proven pallidonigroluysian atrophy were reviewed, 24 from the literature and 1 of our own. Average age of onset was 54.3 ± 14.3 years, and average duration of disease was 7.9 ± 5.8 years. The most common first symptom was gait or balance disturbance. Patients had a diversity of movement disorders, including chorea in 5 cases (20%). Nine cases (36%) had coexistent motor neuron disease. Almost all cases had gliosis, and many cases had iron-positive pigments in the pallidonigroluysian system. Tauopathy was absent to rare in this region. Widespread tau-negative, p62-positive glial inclusions, described in 1 previous case, were also present in our patient. As pallidonigroluysian atrophy has a diversity of clinical presentations, it is best defined neuropathologically. The relative lack of tauopathy and the presence of p62-positive glial inclusions or iron-positive pigments in the pallidonigroluysian region may help to distinguish pallidonigroluysian atrophy from similar disease entities.

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“…The authors also reported the presence of argyrophilic grain disease in their patients, which was not seen in our case. A few previous articles [15,16] described patients with ubiquitin-positive inclusions and Lewy bodies in the substantia nigra and in the cortex and sometimes -positive neurofibrillary tangles and ␤ -amyloid-positive senile plaques in the cortex. Interestingly, Rusina et al [17] reported the co-occurrence of AD and MND with predominant involvement of the bulbar region and lower motor neurons.…”

Section: Discussionmentioning

confidence: 99%

TDP43-Positive Intraneuronal Inclusions in a Patient with Motor Neuron Disease and Parkinson’s Disease

et al. 2010

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Background: The role of the 43-kDa transactivation-responsive DNA-binding protein (TDP43) in neurodegenerative diseases is not yet clearly established. Objective: To assess for the first time the presence of TDP43 in a patient with motor neuron disease (MND) and Parkinson’s disease (PD). Methods: A 78-year-old woman developed poorly dopa-responsive parkinsonism without cognitive alteration. Three years later, MND appeared and led to death in less than a year. Neuropathologic examination was performed. Results: We observed the presence of PD and MND lesions with TDP43-positive cytoplasmic inclusions in the spinal cord and bulbar nuclei but not in the dentate gyrus and neocortex. The MND was characterized by a severe degeneration of bulbar and cervical lower motor neurons. Numerous senile plaques and topographically limited neurofibrillary tangles were also observed. Conclusion: The mechanisms underlying the rare co-occurrence of PD and MND are still unclear. The assessment of an abnormal reactivity for TDP43 in our case might gain more insight into the pathophysiology of this association of two diseases. Further studies are needed to confirm these findings and to understand the role of TDP43 in neurodegenerative diseases.

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Familial motor neuron disease with Lewy body-like inclusions in the substantia nigra, the subthalamic nucleus, and the globus pallidus

Cited by 18 publications

References 24 publications

Genetic epidemiology of amyotrophic lateral sclerosis

Genetic epidemiology of amyotrophic lateral sclerosis

Clinicopathological review of pallidonigroluysian atrophy

TDP43-Positive Intraneuronal Inclusions in a Patient with Motor Neuron Disease and Parkinson’s Disease

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