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

Irie, Togo; Watanabe, Takeshi; Mikami, Hirotsugu; Yamazaki, Tsuneyuki; Oyanagi, Kiyomitsu; Ono, Seiitsu

doi:10.1016/j.jns.2007.11.020

Cited by 19 publications

(15 citation statements)

References 25 publications

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“…The clinical characteristics in the case described here was onset of symptoms in the legs, frequently seen in FALS [19], and poor upper motor neuron signs in spite of definite fiber loss in the pyramidal tracts. The patient showed no hyperreflexia, pathological reflexes, or spasticity.…”

Section: Discussionmentioning

confidence: 76%

“…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.…”

Section: Discussionmentioning

confidence: 99%

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

Yasui¹,

Ishikawai²,

Nomura³

et al. 2011

Journal of the Neurological Sciences

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Section: Discussionmentioning

confidence: 76%

Section: Discussionmentioning

confidence: 99%

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

Yasui¹,

Ishikawai²,

Nomura³

et al. 2011

Journal of the Neurological Sciences

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“…The righting reflex may also be a measure of declining proprioception. Evidence suggests the dorsal root [102], dorsal root ganglia [102], [108]–[110], dorsal funiculus [102], Clarke's nuclei [103], [109], [111], [112] and spinocerebellar tract [103], [109], [111]–[113], the regions of the spinal cord responsible for processing proprioception, may be affected in humans with ALS [103], [108]–[112] and animal models of ALS [102], [113], however some researchers failed to ascertain this association [113]. It is important to note that the magnitude of diminished proprioception and muscle loss may be different depending on the time used as the cutoff for the righting reflex, with greater atrophy of motor neurons occurring when longer cutoffs are used [113].…”

Section: Discussionmentioning

confidence: 99%

One Universal Common Endpoint in Mouse Models of Amyotrophic Lateral Sclerosis

2011

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There is no consensus among research laboratories around the world on the criteria that define endpoint in studies involving rodent models of amyotrophic lateral sclerosis (ALS). Data from 4 nutrition intervention studies using 162 G93A mice, a model of ALS, were analyzed to determine if differences exist between the following endpoint criteria: CS 4 (functional paralysis of both hindlimbs), CS 4+ (CS 4 in addition to the earliest age of body weight loss, body condition deterioration or righting reflex), and CS 5 (CS 4 plus righting reflex >20 s). The age (d; mean ± SD) at which mice reached endpoint was recorded as the unit of measurement. Mice reached CS 4 at 123.9±10.3 d, CS 4+ at 126.6±9.8 d and CS 5 at 127.6±9.8 d, all significantly different from each other (P<0.001). There was a significant positive correlation between CS 4 and CS 5 (r = 0.95, P<0.001), CS 4 and CS 4+ (r = 0.96, P<0.001), and CS 4+ and CS 5 (r = 0.98, P<0.001), with the Bland-Altman plot showing an acceptable bias between all endpoints. Logrank tests showed that mice reached CS 4 24% and 34% faster than CS 4+ (P = 0.046) and CS 5 (P = 0.006), respectively. Adopting CS 4 as endpoint would spare a mouse an average of 4 days (P<0.001) from further neuromuscular disability and poor quality of life compared to CS 5. Alternatively, CS 5 provides information regarding proprioception and severe motor neuron death, both could be important parameters in establishing the efficacy of specific treatments. Converging ethics and discovery, would adopting CS 4 as endpoint compromise the acquisition of insight about the effects of interventions in animal models of ALS?

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“…In our analysis, the G93S mutation was found in three unrelated patients from the Tokai district of Japan (personal communication). There are at least 6 Japanese families with G93S, 4 of the 6 families being reported to be residents of the Tokai district [24–26]. The accumulation of G93S in Japanese SALS cases suggests the possibility of decreased penetrance or an incomplete family history rather than a de novo mutation.…”

Section: Discussionmentioning

confidence: 99%

High-Resolution Melting (HRM) Analysis of the Cu/Zn Superoxide Dismutase (SOD1) Gene in Japanese Sporadic Amyotrophic Lateral Sclerosis (SALS) Patients

Akimoto

Morita

Atsuta

et al. 2011

Neurology Research International

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Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder, and the majority of ALS are sporadic (SALS). Recently, several causative genes for familial ALS (FALS) were identified, but the cause of the SALS is still unknown. This time, we aimed to identify the genetic background of SALS. First, we applied the new sensitive screening methods: high-resolution melting (HRM) analysis. HRM analysis detected 18 out of 19 known SOD1 gene mutations (94.7% sensitivity). Next, we screened SOD1, three novel mutations (C6Y, Q22H, and S134T) were identified in our own 184 SALS cases (1.63% prevalence), and four mutations in another 255 SALS cases (1.56% prevalence) registered from all over Japan. The patients with SOD1 mutations suggested a relatively young onset and limb involvement at onset. The HRM analysis is a sensitive and easy screening method; we will use this method for screening other ALS causative genes and revealing the genetic background of SALS.

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

Cited by 19 publications

References 25 publications

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

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

One Universal Common Endpoint in Mouse Models of Amyotrophic Lateral Sclerosis

High-Resolution Melting (HRM) Analysis of the Cu/Zn Superoxide Dismutase (SOD1) Gene in Japanese Sporadic Amyotrophic Lateral Sclerosis (SALS) Patients

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