The DOI matches its Crossref record; 37 of the 37 references it cites were found in a registry or an index.
Phenotypic heterogeneity of amyotrophic lateral sclerosis: a population based study
Abstract
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 were classified according to established ALS phenotypes: classic, bulbar, flail arm, flail leg, pyramidal, respiratory, pure lower motor neuron (PLMN) and pure upper motor neuron (PUMN). RESULTS: ALS phenotype were determined in 1332 out of 1351 incident patients (98.6%). Classic and bulbar phenotypes had similar mean annual incidence rates. Gender specific incidence rates showed a male preponderance in respiratory, flail arm, classic and PLMN phenotypes; in all other phenotypes, men and women had similar incidence rates. Age at onset was significantly lower in pyramidal, PLMN and PUMN phenotypes and higher in the bulbar phenotype. The best outcomes were observed in PUMN, pyramidal, PLMN and flail arm phenotypes and the worst in respiratory and bulbar phenotypes. CONCLUSIONS: Our epidemiological findings suggest that ALS phenotypes carry distinctive and easily distinguishable clinical and prognostic characteristics, strongly related to a complex interplay between gender and age. The categorisation of ALS patients according to more homogenous clinical groups is relevant in identifying biological markers for ALS and should be considered for the design of clinical trials.
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Cites
El Escorial revisited: revised criteria for the diagnosis of amyotrophic lateral sclerosis
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Frontotemporal lobar degeneration: A consensus on clinical diagnostic criteria
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Mutations in the FUS/TLS Gene on Chromosome 16 Cause Familial Amyotrophic Lateral Sclerosis
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Incidence of amyotrophic lateral sclerosis in Europe
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Self-citationGender differences in Parkinson's disease
Haaxma, C. A., Bloem, B. R., Borm, G. F., Oyen, W. J. G., Leenders, K. L., Eshuis, S., Booij, J., Dluzen, D. E., & Horstink, M. W. I. M. (2007) · Journal of Neurology, Neurosurgery & Psychiatry · doi:10.1136/jnnp.2006.103788 · Cited by 741
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PRIMARY LATERAL SCLEROSIS: CLINICAL FEATURES, NEUROPATHOLOGY AND DIAGNOSTIC CRITERIA
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The natural history of primary lateral sclerosis
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Cited by
Amyotrophic lateral sclerosis: a clinical review
Masrori, P., & Van Damme, P. (2020) · European Journal of Neurology · doi:10.1111/ene.14393 · Cited by 1,201
Recent advances in the diagnosis and prognosis of amyotrophic lateral sclerosis
Goutman, S. A., Hardiman, O., Al-Chalabi, A., Chió, A., Savelieff, M. G., Kiernan, M. C., & Feldman, E. L. (2022) · The Lancet Neurology · doi:10.1016/s1474-4422(21)00465-8 · Cited by 493
Self-citationAmyotrophic lateral sclerosis: moving towards a new classification system
Al-Chalabi, A., Hardiman, O., Kiernan, M. C., Chiò, A., Rix-Brooks, B., & van den Berg, L. H. (2016) · The Lancet Neurology · doi:10.1016/s1474-4422(16)30199-5 · Cited by 390
Self-citationClinical Spectrum of Amyotrophic Lateral Sclerosis (ALS)
Grad, L. I., Rouleau, G. A., Ravits, J., & Cashman, N. R. (2017) · Cold Spring Harbor Perspectives in Medicine · doi:10.1101/cshperspect.a024117 · Cited by 316
Gene discovery in amyotrophic lateral sclerosis: implications for clinical management
Al-Chalabi, A., van den Berg, L. H., & Veldink, J. (2017) · Nature Reviews Neurology · doi:10.1038/nrneurol.2016.182 · Cited by 287
Metadata
- Authors
- Chio, A., Calvo, A., Moglia, C., Mazzini, L., Mora, G., & PARALS study group
- Venue
- Journal of Neurology, Neurosurgery & Psychiatry
- Publisher
- BMJ
- Published
- 2011-03-14
- Volume
- 82
- Issue
- 7
- Pages
- 740-746
- ISSN
- 0022-3050 (ISSN-L)
- OpenAlex
- W2073987119
- Cited by
- 621
- References
- 37
- FWCI
- 14.45
- Type
- journal article
- Language
- en
- Open access
- closed
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