Familial Amyotrophic Lateral Sclerosis With a Novel Leu126Ser Mutation in the Copper/Zinc Superoxide Dismutase Gene Showing Mild Clinical Features and Lewy Body–Like Hyaline Inclusions

Abstract

Familial ALS with a novel Leu126Ser mutation in the SOD1 gene showed mild clinical features and lack of upper motor neuron signs. We believe that Leu126Ser might be associated with the clinical features and that the mutation site in the SOD1 gene and disease duration might be associated with the formation of Lewy body-like hyaline inclusions.

Familial ALS With p. L127S ( L126S ) Variant of the Cu/Zn SOD1 Gene: A Report of Two New Cases and Literature Review

“…Mild neuronal loss was observed in the primary motor cortex. These findings are like those of previous reports [3, 4].…”

Familial ALS With p. L127S ( L126S ) Variant of the Cu/Zn SOD1 Gene: A Report of Two New Cases and Literature Review

“…Mild neuronal loss was observed in the primary motor cortex. These findings are like those of previous reports [3, 4].…”

An Autopsy Case of ALS Which Clinically Presented Sporadic Adult‐Onset Lower Motor Neuron Disease and Genetically Had p. Leu127Ser ( L126S ) Variant in SOD1 and SMN2

“…Neuronal degeneration predominantly of the lower motor neurons and the presence of inclusions in the remaining motor neurons were characteristic of p. L127S-ALS. The previous reports have shown that degeneration of the sensory and cerebellar systems often accompanies their pathology [10][11][12]. The present case showed similar findings in Clarke's nuclei and the dentate nucleus (Table 2).…”

A clinicopathological study of ALS with L126S mutation in the SOD1 gene presenting with isolated inferior olivary hypertrophy

“…We had the opportunity to compare the neuropathological changes observed in our case and the other case reported by Takehisa et al . We found that in both cases, the degeneration was focally accentuated and there was evidence of increased glial activation.…”

“…We had the opportunity to compare the neuropathological changes observed in our case and the other case reported by Takehisa et al 9 We found that in both cases, the degeneration was focally accentuated and there was evidence of increased glial activation. As mentioned previously, this mutation has two features; first, it shows incomplete penetrance, and second, at the time of writing, it is restricted to the Japanese population.…”

Familial ALS With p. L127S ( L126S ) Variant of the Cu/Zn SOD1 Gene: A Report of Two New Cases and Literature Review

“…Mild neuronal loss was observed in the primary motor cortex. These findings are like those of previous reports [3, 4].…”

An Autopsy Case of ALS Which Clinically Presented Sporadic Adult‐Onset Lower Motor Neuron Disease and Genetically Had p. Leu127Ser ( L126S ) Variant in SOD1 and SMN2

“…Neuronal degeneration predominantly of the lower motor neurons and the presence of inclusions in the remaining motor neurons were characteristic of p. L127S-ALS. The previous reports have shown that degeneration of the sensory and cerebellar systems often accompanies their pathology [10][11][12]. The present case showed similar findings in Clarke's nuclei and the dentate nucleus (Table 2).…”

A clinicopathological study of ALS with L126S mutation in the SOD1 gene presenting with isolated inferior olivary hypertrophy

“…We had the opportunity to compare the neuropathological changes observed in our case and the other case reported by Takehisa et al . We found that in both cases, the degeneration was focally accentuated and there was evidence of increased glial activation.…”

“…We had the opportunity to compare the neuropathological changes observed in our case and the other case reported by Takehisa et al 9 We found that in both cases, the degeneration was focally accentuated and there was evidence of increased glial activation. As mentioned previously, this mutation has two features; first, it shows incomplete penetrance, and second, at the time of writing, it is restricted to the Japanese population.…”

Familial ALS With p. L127S ( L126S ) Variant of the Cu/Zn SOD1 Gene: A Report of Two New Cases and Literature Review

“…Mild neuronal loss was observed in the primary motor cortex. These findings are like those of previous reports [3, 4].…”

An Autopsy Case of ALS Which Clinically Presented Sporadic Adult‐Onset Lower Motor Neuron Disease and Genetically Had p. Leu127Ser ( L126S ) Variant in SOD1 and SMN2

“…Neuronal degeneration predominantly of the lower motor neurons and the presence of inclusions in the remaining motor neurons were characteristic of p. L127S-ALS. The previous reports have shown that degeneration of the sensory and cerebellar systems often accompanies their pathology [10][11][12]. The present case showed similar findings in Clarke's nuclei and the dentate nucleus (Table 2).…”

A clinicopathological study of ALS with L126S mutation in the SOD1 gene presenting with isolated inferior olivary hypertrophy

“…We had the opportunity to compare the neuropathological changes observed in our case and the other case reported by Takehisa et al . We found that in both cases, the degeneration was focally accentuated and there was evidence of increased glial activation.…”

“…We had the opportunity to compare the neuropathological changes observed in our case and the other case reported by Takehisa et al 9 We found that in both cases, the degeneration was focally accentuated and there was evidence of increased glial activation. As mentioned previously, this mutation has two features; first, it shows incomplete penetrance, and second, at the time of writing, it is restricted to the Japanese population.…”