scholarly journals Clinical Characteristics of Korean Juvenile Amyotrophic Lateral Sclerosis

2020 ◽  
Vol 12 (2) ◽  
pp. 17-23
Author(s):  
Sanggon Lee ◽  
Jinseok Park ◽  
Ki-Wook Oh ◽  
Seung Hyun Kim
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Clinical Characteristics ◽  
Juvenile Amyotrophic Lateral Sclerosis ◽  
Lateral Sclerosis

HEREDITARY MOTOR SYSTEM DISEASES (CHRONIC JUVENILE AMYOTROPHIC LATERAL SCLEROSIS)

Brain ◽  
1990 ◽  
Vol 113 (2) ◽  
pp. 347-363 ◽  
Author(s):  
MONGI BEN HAMIDA ◽  
FAYÇAL HENTATI ◽  
CHRISTIANE BEN HAMIDA
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Motor System ◽  
Hereditary Motor ◽  
Juvenile Amyotrophic Lateral Sclerosis ◽  
Lateral Sclerosis

scholarly journals A Retrospective Study of the Clinical Phenotype and Predictors of Survival in non-Caucasian Hispanic Patients with Amyotrophic Lateral Sclerosis.

2019 ◽  
Author(s):  
Claudia Marisol Sánchez-Martínez ◽  
José Alberto Choreño-Parra ◽  
Lilia Nuñez-Orozco ◽  
Noel Isaías Placencia-Álvarez ◽  
Laura Marcela Alvis-Cataño ◽  
...  
Keyword(s):  
Overall Survival ◽  
Amyotrophic Lateral Sclerosis ◽  
Prognostic Factors ◽  
Retrospective Study ◽  
Survival Time ◽  
Clinical Characteristics ◽  
Clinical Phenotype ◽  
Age At Onset ◽  
Als Patients ◽  
Lateral Sclerosis

Abstract Background. Little is known about the clinical phenotype of amyotrophic lateral sclerosis (ALS) in non-Caucasian populations. Here, we aimed to describe the clinical characteristics, prognostic factors and survival of Mexican patients with ALS. Methods. We conducted a retrospective study by reviewing the medical records of patients with ALS that attended and were regularly followed at a third level hospital in Mexico City from 2000 to 2015. We calculated absolute and relative frequencies of the clinical characteristics from all the participants. We also estimated correlation coefficients between clinical features and overall survival. Additionally, survival rates were compared for all participants grouped according to different clinical features using the Kaplan-Meier method and the log-rank test. Results. We enrolled 45 ALS patients, 53.33% had spinal-onset ALS and 46.66% presented bulbar ALS. The male/female ratio was 0.8. The mean age at onset of symptoms was 58.11 years. Mean survival time from onset was 64.73 ± 34.83 months. Cumulative survival rate after 5 years of disease onset was 44.44%. Age at onset and age at diagnosis inversely correlated with overall survival time. Also, we found that bulbar-onset, short diagnostic delay, percutaneous endoscopic gastrostomy, mechanical ventilation, and lower total cholesterol serum levels were associated with short survival. Conclusions. The clinical characteristics of Mexican ALS patients differ from the disease phenotype observed in Caucasians. Nonetheless, the predictive value of certain well-recognized prognostic factors remains consistent in our population. The current study provides relevant information for a better understanding of prognostic factors in ALS patients from Mexico and other Latin American countries.

Challenging diagnosis of juvenile amyotrophic lateral sclerosis FUS-related during COVID-19 pandemic

2021 ◽  
Vol 429 ◽  
pp. 119387
Author(s):  
Giorgia Bruno ◽  
Francesco Barbato ◽  
Giovanni Colacicco ◽  
Domenico Ippolito ◽  
Antonio Di Masi ◽  
...  
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Juvenile Amyotrophic Lateral Sclerosis ◽  
Lateral Sclerosis

NOVEL COMPOUND HETEROZYGOUS ALS2 MUTATIONS CAUSE JUVENILE AMYOTROPHIC LATERAL SCLEROSIS IN JAPAN

Neurology ◽  
2009 ◽  
Vol 73 (24) ◽  
pp. 2124-2126 ◽  
Author(s):  
K. Shirakawa ◽  
H. Suzuki ◽  
M. Ito ◽  
S. Kono ◽  
T. Uchiyama ◽  
...  
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Compound Heterozygous ◽  
Juvenile Amyotrophic Lateral Sclerosis ◽  
Lateral Sclerosis

scholarly journals ALS2 mutations: Juvenile amyotrophic lateral sclerosis and generalized dystonia

Neurology ◽  
2014 ◽  
Vol 82 (12) ◽  
pp. 1065-1067 ◽  
Author(s):  
U.-M. Sheerin ◽  
S. A. Schneider ◽  
L. Carr ◽  
G. Deuschl ◽  
F. Hopfner ◽  
...  
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Juvenile Amyotrophic Lateral Sclerosis ◽  
Generalized Dystonia ◽  
Lateral Sclerosis
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