Phenotypic heterogeneity of amyotrophic lateral sclerosis: a population based study

  title={Phenotypic heterogeneity of amyotrophic lateral sclerosis: a population based study},
  author={Adriano Chi{\`o} and Andrea Calvo and Cristina Moglia and Letizia Mazzini and Gabriele Mora},
  journal={Journal of Neurology, Neurosurgery \& Psychiatry},
  pages={740 - 746}
  • A. ChiòA. Calvo G. Mora
  • Published 14 March 2011
  • Medicine, Biology, Psychology
  • Journal of Neurology, Neurosurgery & Psychiatry
Background Different amyotrophic lateral sclerosis (ALS) phenotypes have been recognised, marked by a varying involvement of spinal and bulbar upper and lower motor neurons. However, the differential characteristics of these phenotypes are still largely unknown. Objective To define the epidemiology and outcome of ALS phenotypes in a population based setting. Methods All ALS cases incident in two Italian regions were prospectively collected from 1995 to 2004 in an epidemiological register. Cases… 

Variability and prognostic relevance of different phenotypes in amyotrophic lateral sclerosis — Data from a population-based registry

Clinical Spectrum of Amyotrophic Lateral Sclerosis (ALS).

The pathogenic mechanism(s) in ALS remain unknown, but active propagation of the pathology neuroanatomically is likely a primary component.

Parkinsonian traits in amyotrophic lateral sclerosis (ALS): a prospective population-based study

Neuroimaging data indicate that PK signs are due to the involvement of brain circuitries other than classical nigrostriatal ones, strengthening the hypothesis of ALS as a complex multisystem disease.

Cognition and motor phenotypes in ALS: a retrospective study

Amyotrophic lateral sclerosis (ALS) is phenotypically heterogeneous in motor manifestations, and the extent of upper vs. lower motor neuron involvement is a widespread descriptor. This study aimed to

Identification and outcomes of clinical phenotypes in amyotrophic lateral sclerosis/motor neuron disease: Australian National Motor Neuron Disease observational cohort

The establishment of a cohort registry for ALS/MND is able to determine clinical phenotypes, survival and monitor time to key milestones in disease progression and facilitate data linkage to other national registries.

Epidemiological, Clinical and Genetic Features of ALS in the Last Decade: A Prospective Population-Based Study in the Emilia Romagna Region of Italy

A high ALS incidence suggesting exhaustiveness of case ascertainment is highlighted, and interesting phenotype–genotype correlations in the ALS population of ERR is highlighted.

Clinical and demographic factors and outcome of amyotrophic lateral sclerosis in relation to population ancestral origin

A systematic review and meta-analysis of the literature concerning differences in phenotype and outcome of ALS that relate to PAO sets the scene for a collaborative study involving a wide international consortium to investigate the link between ancestry, environment, and ALS phenotype.

ALS phenotype is influenced by age, sex, and genetics

The data suggest that the spatial–temporal combination of motor and cognitive events leading to the onset and progression of ALS is characterized by a differential susceptibility to the pathologic process of motorand prefrontal cortices and lower motor neurons, and is influenced by age, sex, and gene variants.

Epidemiology of amyotrophic lateral sclerosis in Southern Germany

The incidence rate of ALS dropped markedly after 79 years of age, and bulbar onset as well as cognitive impairment were more frequent in ALS cases >75 years, and an increased proportion of patients with bul bar onset and/or cognitive deficits can be used as basic epidemiologic data on ALS for future health care decisions.



Clinical phenotypes and natural progression for motor neuron disease: Analysis from an Australian database

  • P. TalmanA. ForbesS. Mathers
  • Medicine, Biology
    Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases
  • 2009
The utility of developing a method of assigning clinical phenotypes with similar survival and disease progression rates is discussed in relation to therapeutic trial design, practice benchmarking and clinico-pathological correlations.

ALS motor phenotype heterogeneity, focality, and spread

Heterogeneity of motor phenotypes suggests motor neuron degeneration in ALS is in actuality a very orderly and actively propagating process and that fundamental molecular mechanisms may be uniform and their chief properties deduced.

Incidence of amyotrophic lateral sclerosis in Europe

Sex differences in incidence may be explained by the higher incidence of spinal onset ALS among men, and the age related disease pattern suggests that ALS occurs within a susceptible group within the population rather than being a disease of ageing.

The natural history of primary lateral sclerosis

Clinically pure PLS can be defined by isolated UMN signs 4 years after symptom onset, and is a syndrome of slow progression with high levels of function.

Latent Cluster Analysis of ALS Phenotypes Identifies Prognostically Differing Groups

The five phenotypic classes identified using latent cluster analysis can predict prognosis and could be used to stratify patients recruited into clinical trials and generating more homogeneous disease groups for genetic, proteomic and risk factor research.

El Escorial revisited: Revised criteria for the diagnosis of amyotrophic lateral sclerosis

  • B. BrooksRobert G. MillerM. SwashT. Munsat
  • Medicine, Psychology
    Amyotrophic lateral sclerosis and other motor neuron disorders : official publication of the World Federation of Neurology, Research Group on Motor Neuron Diseases
  • 2000
The criteria described below represent the result of a three-day workshop, convened at Airlie Conference Center, Warrenton, Virginia on 2–4 April, 1998 by the World Federation of Neurology Research Committee on Motor Neuron Diseases, and are placed on the WFN ALS website.

Prognosis of amyotrophic lateral sclerosis with respiratory onset

It is suggested that ALS with respiratory onset does not necessarily follow a rapidly progressive course and non-invasive positive pressure ventilation (NIPPV) significantly improved survival compared with those who did not use NIPPV.

Differentiation between primary lateral sclerosis and amyotrophic lateral sclerosis: examination of symptoms and signs at disease onset and during follow-up.

The findings suggest that a patient presenting with spasticity who does not develop wasting within 3 years most likely has PLS, and which clinical features at onset and during follow-up could help differentiate between PLS and ALS.

Clinical features that distinguish PLS, upper motor neuron–dominant ALS, and typical ALS

It is suggested that patients with only upper motor neuron signs have periodic evaluations of strength, weight, forced vital capacity, Amyotrophic Lateral Sclerosis Functional Rating Scale score, and EMG, because a change in any can signal the imminent development of lower motor neuronSigns.