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 amyotrophic lateral sclerosis with Cys111Tyr mutation in Cu/Zn superoxide dismutase showing widespread Lewy body-like hyaline inclusions

“…The above LBHIs are observed only in patients with Ala4Thr [6], Ala4Val [5], His46Arg [8], Leu126Ser [13], and two-based deletion in codon 126 [14]. The distribution of the neuronal LBHIs was generally limited to the motor neuron system [5,6,8].…”

“…Prior studies on autopsied FALS cases with SOD1 mutations varied considerably in their findings [20]. Neuropathological findings of FALS with Ala4Val [5], Ala4Thr [6], Gly37Arg [7], His46Arg [8], His48Glu [9], Gly93Ser [19], Glu100Gly [10] Ile113Thr [11], Val118Leu [11], Leu126Ser [13], and two-base deletion in codon126 [14] have been reported. Degeneration of the corticospinal tracts, posterior column (middle root zone), Clarke's column, and spinocerebellar tracts is common findings of FALS with a SOD1 mutation.…”

“…The duration and the age of onset of FALS with a SOD1 mutation are variable, but the genotype of SOD1 may specifically determine the phenotype expression. However, there have been only a small number of reports on the clinicopathological features of FALS with SOD1 gene mutation [5][6][7][8][9][10][11][12][13][14]. It is important to investigate the relationship between SOD1 mutations and the clinical and neuropathological features.…”

Familial amyotrophic lateral sclerosis with Gly93Ser mutation in Cu/Zn superoxide dismutase: A clinical and neuropathological study

“…Prior studies on autopsied FALS cases with SOD1 mutations varied considerably in their findings [21]. Neuropathological findings of FALS with Ala4Val [5], Ala4Thr [6], Gly37Arg [7], His46Arg [8], His48Gln [9], Glu100Gly [10], Ile113Thr [11], Val118Leu [12], Leu126Ser [13], and two-base delection in codon 126 [14] have been reported. Degeneration of the corticospinal tracts, posterior column (middle root zone), Clarke's column, and spinocerebellar tracts are common findings of FALS with a SOD1 mutation.…”

“…Clinical features and neuropathological findings may differ from those of sporadic ALS in some respects. However, there have been only a small number of reports on the clinicopathological features of FALS with SOD1 gene mutation [5][6][7][8][9][10][11][12][13][14]. It is important to investigate the relationship between SOD1 mutations and the clinical and neuropathological features.…”