Natural history of young-adult amyotrophic lateral sclerosis

@article{Sabatelli2008NaturalHO,
  title={Natural history of young-adult amyotrophic lateral sclerosis},
  author={Mario Sabatelli and Francesca Madia and Amelia Conte and Marco Luigetti and Marcella Zollino and Irene Mancuso and Mauro Lo Monaco and Gian Lippi and Pietro Attilio Tonali},
  journal={Neurology},
  year={2008},
  volume={71},
  pages={876 - 881}
}
Background: Amyotrophic lateral sclerosis (ALS) affects people of all ages, but whether the wide range of age at onset is due to distinct diseases or merely reflects phenotypic variability of the same disorder is still unknown. The purpose of this study is to describe clinical and prognostic features of young-adult ALS, with onset before age 40 years, and to compare them with features of the common adult-onset type. Methods: We analyzed clinical features and long-term follow-up of 57 young… 
Uncovering amyotrophic lateral sclerosis phenotypes: Clinical features and long-term follow-up of upper motor neuron-dominant ALS
  • M. Sabatelli, M. Zollino, +8 authors A. Conte
  • Medicine
    Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases
  • 2011
TLDR
The UMN-D phenotype was a strong independent predictor of long survival and showed significant differences in age of onset, sex ratio, pattern of spreading and prognosis with respect to other ALS forms, most probably reflecting biological differences.
The distinct manifestation of young-onset amyotrophic lateral sclerosis in China
TLDR
This study highlighted distinct clinical manifestation and genetic background in young-onset ALS patients in China, and mutations in SPG11, ALS2, and SETX were the most frequent, followed by FUS variants.
Epidemiological features of amyotrophic lateral sclerosis in a large clinic-based African American population
TLDR
AA patients presented at an earlier age, but there was no difference in survival compared to CA patients, and a gender reversal occurred in younger ALS patients, with AA patients more likely to be female and CA patients morelikely to be male.
Clinical features of amyotrophic lateral sclerosis in south-west China
TLDR
Chinese ALS patients may be younger at age of onset than Caucasian patients, and the large treatment gap indicated a pressing need for medical and financial support for Chinese ALS patients.
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TLDR
This Ph.D research project was to identify new ALS mutated genes while analysing the causative role of other newly identified genes in a large familial and sporadic ALS cohort of different origins.
Outcome of patients with amyotrophic lateral sclerosis attending in a multidisciplinary care unit.
TLDR
The treatment in multidisciplinary units does not change the neurological progression of the disease, but increases the survival of ALS patients regardless of their initial onset, emphasising the use of multi-disciplinary care.
Clinical characteristics in young-adult ALS – results from a Portuguese cohort study
TLDR
D disease progression is slower and survival longer in yALS, moreover and bulbar-onset phenotype is less common than in aALS, and a panel of 50 ALS-related genes investigated with next-generation sequencing revealed no pathogenic mutation.
Outcome of patients with amyotrophic lateral sclerosis attending in a multidisciplinary care unit
TLDR
The treatment in multidisciplinary units does not change the neurological progression of the disease, but increases the survival of ALS patients regardless of their initial onset, emphasising the use of multi-disciplinary care.
Late-onset patients with sporadic amyotrophic lateral sclerosis in Japan have a higher progression rate of ALSFRS-R at the time of diagnosis.
TLDR
It is suggested that patients with late-onset ALS showed more rapid disease progression than those with early-ONSet ALS using the progression rate (ΔFS).
Amyotrophic lateral sclerosis: moving towards a new classification system
TLDR
A new strategy is needed to combine the benefits of a systematic approach to classification with the rich and varied phenotypic descriptions used in clinical practice to avoid confusion between diagnosis and phenotype.
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References

SHOWING 1-10 OF 35 REFERENCES
Prognostic factors and survival in amyotrophic lateral sclerosis.
TLDR
This study of clinical outcome in amyotrophic lateral sclerosis evaluated 148 patients diagnosed in Hordaland county, Norway, during the period 1970 to 1990 and found cases with mainly spastic clinical appearance had longer survival than those with marked atrophy.
Duration of amyotrophic lateral sclerosis is age dependent
TLDR
It is concluded that onset age, but no sex, is the most significant predictor determining disesae duration in ALS, and longer survival in younger patients probably reflects their greater neuronal reserve.
Flail arm syndrome: a distinctive variant of amyotrophic lateral sclerosis
TLDR
It seems likely that unknown factors linked to male sex predispose a proportion of patients to develop the flail arm phenotype, and this syndrome probably represents a variant of ALS.
Amyotrophic lateral sclerosis. Clinical features and prognosis.
  • A. Rosen
  • Medicine
    Archives of neurology
  • 1978
TLDR
The clinical diagnosis of amyotrophic lateral sclerosis was identified in 668 patients who were followed up for periods up to three years and the spinal form was associated with a threefold better five-year survival than the bulbar form.
Amyotrophic lateral sclerosis: early predictors of prolonged survival
TLDR
The identification of younger age, limb site of onset and longer diagnostic delay as predictors of prolonged survival in ALS clinic population supports the findings of several, earlier studies that were based on smaller groups of patients.
Focality of upper and lower motor neuron degeneration at the clinical onset of ALS
TLDR
Motor neuron degeneration in ALS is a focal process at both upper and lower motor neuron levels of the motor system and then advances contiguously and separately to summate over time.
Natural history of amyotrophic lateral sclerosis in a database population. Validation of a scoring system and a model for survival prediction.
Over 1200 patients with motor neuron disease have been carefully diagnosed, followed, and included in a detailed database delineating characteristics of the disease. Of these patients, 831 were
Genetics of familial and sporadic amyotrophic lateral sclerosis.
TLDR
The pathways leading to the specific motor neurons degeneration in the presence of SOD1 mutations have not been fully identified and this review provides an overview of the genetics of both familial and sporadic forms of ALS.
Hereditary motor system diseases (chronic juvenile amyotrophic lateral sclerosis). Conditions combining a bilateral pyramidal syndrome with limb and bulbar amyotrophy.
TLDR
Patients with hereditary motor system diseases belonging to 17 families with clinical features of a bilateral pyramidal syndrome, weakness with atrophy and fasciculation of the hands and/or the legs, with or without a bulbar or a pseudobulbar syndrome were studied.
Incidence of amyotrophic lateral sclerosis in southern Italy: a population based study
TLDR
ALS incidence is within a narrow range across countries, with a peak between 65 and 75 years and a higher incidence in men, and a north to south latitude gradient of ALS incidence is not supported by the results of cohort studies.
...
1
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3
4
...