An autopsy report of a long-survival case of familial amyotrophic lateral sclerosis with SOD1 G93S gene mutation: Lack of SOD1-positive inclusion in the remaining neurons.

We describe the case of a 70-year-old Japanese man with familial amyotrophic lateral sclerosis (fALS) associated with a p.Gly93Ser mutation in the copper/zinc superoxide dismutase (SOD1) gene. This mutation is one of the relatively rare SOD1 mutations, with only one previous autopsy report, and is known for its longer disease duration.

Somatosensory pathway dysfunction in patients with amyotrophic lateral sclerosis in a completely locked-in state.

Objective: To investigate somatosensory pathway function in patients with amyotrophic lateral sclerosis (ALS) dependent on invasive ventilation and in a completely locked-in state (CLIS).

Methods: We examined median nerve somatosensory evoked potentials (SEPs) in 17 ALS patients in a CLIS, including 11 patients with sporadic ALS, one with familial ALS with genes not examined, four with a Cu/Zn superoxide-dismutase-1 (SOD1) gene variant (Val118Leu, Gly93Ser, Cys146Arg), and one with a fused-in-sarcoma gene variant (P525L). We evaluated N9, N13, N20 and P25, and central conduction time (CCT); the data were compared with those of 73 healthy controls.

Clinical relevance of macroglossia to disease progression in ventilation dependent patients with advanced ALS.

Background: Macroglossia is one of the clinical signs that emerges in patients with amyotrophic lateral sclerosis (ALS) who are undergoing invasive ventilation.

Objective: We aimed to investigate the relationship between the progression of macroglossia and the clinical characteristics during the advanced stages of ALS.

Methods: Forty-one patients with ALS using invasive ventilation with tracheostomy were prospectively followed over a 3-year period.

Body Weight Gain Is Associated with the Disease Stage in Advanced Amyotrophic Lateral Sclerosis with Invasive Ventilation.

We investigated the incidence of weight gain and its related factors in patients with amyotrophic lateral sclerosis (ALS) who underwent tracheostomy and invasive ventilation (TIV). Seventy-eight patients with ALS and TIV were enrolled and followed up prospectively. We clarified the clinical profiles of patients with increased weight following TIV and examined chronological variations in their body mass index (BMI), energy intake, and serum albumin levels.

Body weight variation predicts disease progression after invasive ventilation in amyotrophic lateral sclerosis.

Weight loss is an independent predictor of survival in the early stages of amyotrophic lateral sclerosis (ALS). However, the effects of weight variations on the functional prognosis after tracheostomy and invasive ventilation (TIV) in ALS remain unknown. This prospective cohort study aimed to investigate the relationship between weight loss before TIV and disease progression after TIV in ALS patients.

Prognostic significance of body weight variation after diagnosis in ALS: a single-centre prospective cohort study.

Background: Body weight reduction after disease onset is an independent predictor of survival in amyotrophic lateral sclerosis (ALS), but significance of weight variation after diagnosis remains to be established.

Objective: To investigate weight variation after diagnosis and its prognostic significance in patients with ALS as a prospective cohort study.

Methods: Seventy-nine patients with ALS were enrolled in this study.

Cough peak flow decline rate predicts survival in patients with amyotrophic lateral sclerosis.

Introduction: In this study we investigated the prognostic significance of cough peak flow (CPF) decline rate in patients with amyotrophic lateral sclerosis (ALS).

Methods: Thirty-four patients with ALS participated in our investigation. We examined CPF, forced vital capacity (FVC), body mass index, and the revised ALS Functional Rating Scale (ALSFRS-R), and followed patients to death, tracheostomy, or non-invasive ventilator dependency.

Non-motor manifestations in ALS patients with tracheostomy and invasive ventilation.

Introduction: This study aimed to investigate non-motor manifestations in amyotrophic lateral sclerosis (ALS) patients with tracheostomy and invasive ventilation (TIV) and their relevance to disease progression.

Methods: Sixty-seven ALS patients with TIV were enrolled, and followed-up prospectively. The patients were classified at the final evaluation into two subgroups according to the duration of TIV use or disease stage measured by communication impairment.

[Analysis of resting salivation rate in patients with amyotrophic lateral sclerosis using tracheostomy invasive ventilation].

Patients with amyotrophic lateral sclerosis (ALS) often suffer from salivation problems such as drooling and dry mouth. We examined resting salivation rate cross-sectionally in 66 advanced ALS patients with tracheostomy invasive ventilation using a cotton roll method, and investigated clinical factors associated with salivation rate. Resting salivation rate in the patients was well preserved (median value 0.

Macroglossia in advanced amyotrophic lateral sclerosis.

Introduction: An enlarged tongue (macroglossia) has been reported in advanced-stage patients with amyotrophic lateral sclerosis (ALS).

Methods: In this study we examined the prevalence of macroglossia and analyzed clinical correlations in 65 ALS patients on tracheostomy-invasive ventilation (TIV).

Results: Macroglossia was found in 22 patients (33.