Background: Neurologic symptoms have been attributed to manganese fumes gener ated during welding. Increased T1 MRI signal in the basal ganglia is a biologic marker of manganese accumulation. Recent studies have assoc...Background: Neurologic symptoms have been attributed to manganese fumes gener ated during welding. Increased T1 MRI signal in the basal ganglia is a biologic marker of manganese accumulation. Recent studies have associated welding and par kinsonism, but generally without MRI corroboration. Objective: To characterize t he clinical and neuropsychological features of patients with MRI basal ganglia T 1 hyperintensity, who were ultimately diagnosed with neurotoxicity from welding fumes. Methods: The medical records of welders referred to the Department of Neu rology with neurologic problems and basal ganglia T1 hyperintensity were reviewe d. Results: All eight patients were male career welders with increased T1 basal ganglia signal on MRI of the brain. Several different clinical syndromes were re cognized: a parkinsonian syndrome (three patients), a syndrome of multifocal myo clonus and limited cognitive impairment (two patients), a mixed syndrome with ve stibular- auditory dysfunction (two patients), and minor subjective cognitive i mpairment, anxiety, and sleep apnea (one patient). Neuropsychometric testing sug gested subcortical or frontal involvement. Inadequate ventilation or lack of per sonal respiratory protection during welding was a common theme. Conclusions: Wel ding without proper protection was associated with syndromes of parkinsonism, mu ltifocal myoclonus, mild cognitive impairment, and vestibular- auditory dysfunc tion. The MRI T1 hyperintensity in the basal ganglia suggests that these may hav e been caused by manganese neurotoxicity.展开更多
Objectives: To determine if apolipoprotein E 4 influences the frequency of Alz heimer type pathologic features in tauopathies, synucleinopathies, and frontote mporal degeneration and to determine if the frequency of A...Objectives: To determine if apolipoprotein E 4 influences the frequency of Alz heimer type pathologic features in tauopathies, synucleinopathies, and frontote mporal degeneration and to determine if the frequency of Alzheimer type patholo gic features in synucleinopathies is similar to the frequency of such features i n tauopathies and frontotemporal degeneration. Methods: A total of 285 patients with pathologically proven neurodegenerative disorders, including diffuse and tr ansitional Lewy body disease, frontotemporal degeneration, progressive supranucl ear palsy, corticobasal degeneration, and multiple system atrophy, with a mean a ge of 75.1 ±.9.3 years, were suitable for genetic and pathological analysis. Di sorders were grouped as tauopathies (progressive supranuclear palsy and corticob asal degeneration), synucleinopathies (Lewy body disease and multiple system atr ophy), and frontotemporal degeneration. Braak neurofibrillary tangle staging and quantitative scores of senile plaques were used to determine the degree of conc omitant Alzheimer type pathologic features in each case, and apolipoprotein E g enotype was determined from DNA isolated from frozen brain tissue. The relations hip of apolipoprotein E 4 to Alzheimer type pathologic features was determined. Results: Across all neurodegenerative disorders, apolipoprotein E 4 and older a ge independently predicted the co occurrence of Alzheimer type pathologic feat ures (P<.001), whereas female sex had a lesser effect (P = .03). When divided in to the 3 subgroups (tauopathies, synucleinopathies, and frontotemporal degenerat ion), apolipoproteinE 4 had a similar effect, whereas older age and female sex w ere less predictive. There was a significant difference between the frequency of Alzheimer type pathologic features in synucleinopathies and the frequency of s uch features in tauopathies and frontotemporal degeneration (P<.001 for both). T he frequency of apolipoprotein E 4 allele was not significantly different among the 3 groups. Conclusions: Apolipoprotein E 4, independent of older age and sex, contributes to the co occurrence of Alzheimer type pathologic features in tau opathies, synucleinopathies, and frontotemporal degeneration, but this does not explain why Alzheimer type pathologic features are significantly more likely to coexist with synucleinopathies than with either tauopathies or frontotemporal d egeneration.展开更多
文摘Background: Neurologic symptoms have been attributed to manganese fumes gener ated during welding. Increased T1 MRI signal in the basal ganglia is a biologic marker of manganese accumulation. Recent studies have associated welding and par kinsonism, but generally without MRI corroboration. Objective: To characterize t he clinical and neuropsychological features of patients with MRI basal ganglia T 1 hyperintensity, who were ultimately diagnosed with neurotoxicity from welding fumes. Methods: The medical records of welders referred to the Department of Neu rology with neurologic problems and basal ganglia T1 hyperintensity were reviewe d. Results: All eight patients were male career welders with increased T1 basal ganglia signal on MRI of the brain. Several different clinical syndromes were re cognized: a parkinsonian syndrome (three patients), a syndrome of multifocal myo clonus and limited cognitive impairment (two patients), a mixed syndrome with ve stibular- auditory dysfunction (two patients), and minor subjective cognitive i mpairment, anxiety, and sleep apnea (one patient). Neuropsychometric testing sug gested subcortical or frontal involvement. Inadequate ventilation or lack of per sonal respiratory protection during welding was a common theme. Conclusions: Wel ding without proper protection was associated with syndromes of parkinsonism, mu ltifocal myoclonus, mild cognitive impairment, and vestibular- auditory dysfunc tion. The MRI T1 hyperintensity in the basal ganglia suggests that these may hav e been caused by manganese neurotoxicity.
文摘Objectives: To determine if apolipoprotein E 4 influences the frequency of Alz heimer type pathologic features in tauopathies, synucleinopathies, and frontote mporal degeneration and to determine if the frequency of Alzheimer type patholo gic features in synucleinopathies is similar to the frequency of such features i n tauopathies and frontotemporal degeneration. Methods: A total of 285 patients with pathologically proven neurodegenerative disorders, including diffuse and tr ansitional Lewy body disease, frontotemporal degeneration, progressive supranucl ear palsy, corticobasal degeneration, and multiple system atrophy, with a mean a ge of 75.1 ±.9.3 years, were suitable for genetic and pathological analysis. Di sorders were grouped as tauopathies (progressive supranuclear palsy and corticob asal degeneration), synucleinopathies (Lewy body disease and multiple system atr ophy), and frontotemporal degeneration. Braak neurofibrillary tangle staging and quantitative scores of senile plaques were used to determine the degree of conc omitant Alzheimer type pathologic features in each case, and apolipoprotein E g enotype was determined from DNA isolated from frozen brain tissue. The relations hip of apolipoprotein E 4 to Alzheimer type pathologic features was determined. Results: Across all neurodegenerative disorders, apolipoprotein E 4 and older a ge independently predicted the co occurrence of Alzheimer type pathologic feat ures (P<.001), whereas female sex had a lesser effect (P = .03). When divided in to the 3 subgroups (tauopathies, synucleinopathies, and frontotemporal degenerat ion), apolipoproteinE 4 had a similar effect, whereas older age and female sex w ere less predictive. There was a significant difference between the frequency of Alzheimer type pathologic features in synucleinopathies and the frequency of s uch features in tauopathies and frontotemporal degeneration (P<.001 for both). T he frequency of apolipoprotein E 4 allele was not significantly different among the 3 groups. Conclusions: Apolipoprotein E 4, independent of older age and sex, contributes to the co occurrence of Alzheimer type pathologic features in tau opathies, synucleinopathies, and frontotemporal degeneration, but this does not explain why Alzheimer type pathologic features are significantly more likely to coexist with synucleinopathies than with either tauopathies or frontotemporal d egeneration.
