Natural history of young-adult amyotrophic lateral sclerosis

Sabatelli, Mario; Madia, Francesca; Conte, Amelia; Luigetti, Marco; Zollino, Marcella; Mancuso, Irene; Monaco, Mauro Lo; Lippi, G; Tonali, P.

doi:10.1212/01.wnl.0000312378.94737.45

Cited by 84 publications

(66 citation statements)

References 24 publications

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“…Juvenile ALS is defined as ALS with age at onset before 25 years, and the course of progression is generally slower than in other forms of ALS. 15,16 poor prognosis. [17][18][19] In some forms of ALS, such as the SETX-associated ALS type 4, the phenotype is so atypical that some authors suggest they should be considered as separate disease entities rather than ALS.…”

Section: Age At Onsetmentioning

confidence: 99%

“…20,21 60% of patients with disease onset between 20 and 40 years of age have predominantly upper motor neuron involvement, and relatively few of these patients (15%) have bulbar-onset disease. 15 Older age at onset is associated with decreased likelihood of upper motor neuron involvement (20%), increased probability of bulbar onset (some studies report up to 50% with onset after 80 years of age), and poor prognosis. 9,22,23 Onset after 80 years is associated with a particularly short survival.…”

Section: Age At Onsetmentioning

confidence: 99%

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The phenotypic variability of amyotrophic lateral sclerosis

2014

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| Classic textbook neurology teaches that amyotrophic lateral sclerosis (ALS) is a degenerative disease that selectively affects upper and lower motor neurons and is fatal 3-5 years after onset-a description which suggests that the clinical presentation of ALS is very homogenous. However, clinical and postmortem observations, as well as genetic studies, demonstrate that there is considerable variability in the phenotypic expression of ALS. Here, we review the phenotypic variability of ALS and how it is reflected in familial and sporadic ALS, in the degree of upper and lower motor neuron involvement, in motor and extramotor involvement, and in the spectrum of ALS and frontotemporal dementia. Furthermore, we discuss some unusual clinical characteristics regarding presentation, age at onset and disease progression. Finally, we address the importance of this variability for understanding the pathogenesis of ALS and for the development of therapeutic strategies.

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Section: Age At Onsetmentioning

confidence: 99%

Section: Age At Onsetmentioning

confidence: 99%

The phenotypic variability of amyotrophic lateral sclerosis

2014

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“…Except for the rare juvenile form (especially the very aggressive fused in sarcoma (FUS) gene mutation form [9]) the age range for developing ALS is quite broad, between 45 and 60 years [10]. The progressive atrophy and loss of upper (corticospinal) and lower (spinal and bulbar) specialized neurons lead to muscle atrophy, weakness and spasticity, and rapidly to paralysis [11].…”

mentioning

confidence: 99%

Neuron-Microglia Interactions in Motor Neuron Degeneration. The Inflammatory Hypothesis in Amyotrophic Lateral Sclerosis Revisited

Rodrı́guez¹,

Mahy²

2016

CMC

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“…It is unclear which, if any, of the clinical variables are important for predicting survival. Previous studies of ALS populations identified several negative prognostic factors, [1][2][3][4][5][6][7][8][9][10][11][12][13] including older age at onset, female sex, and bulbar onset. As there is so much inconsistency in the published literature regarding the relative importance of prognostic factors, clinicians are challenged to provide a well-reasoned prognosis to newly diagnosed patients.…”

mentioning

confidence: 99%