On the ‘classification’ of neurodegenerative disorders: discrete entities, overlap or continuum?

Armstrong, Richard A.

doi:10.5114/fn.2012.30521

Cited by 37 publications

(44 citation statements)

References 140 publications

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“…These studies suggest that the differences between AD and the normal elderly are largely quantitative rather than qualitative and there may be a 'continuum' of pathological change connecting these cases [17]. Nevertheless, the distribution of the pathology may differ in AD and control brain, being more localised to areas of the temporal lobe in aging and with a more extensive spread into the hippocampus and cortical association areas in AD [53,129,139].…”

Section: Theories Based On Agingmentioning

confidence: 90%

“…In addition, if SP and NFT represent the consequenc- es of specific types of neurodegeneration [11] rather than being characteristic of AD, then many cases may show combinations of pathological features, i.e., there will be a considerable degree of overlap between different disorders. Numerous examples of such cases have been reported in the literature, e.g., dementia with Lewy bodies (DLB) with associated AD pathology, Creutzfeldt-Jakob disease (CJD) with AD, Pick's disease (PkD) with AD, and these cases are often difficult to classify [17,28]. Third, should significant effort continue to be devoted to immunotherapy and other treatments designed to remove Ab from the brain?…”

Section: Discussionmentioning

confidence: 99%

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Review article What causes alzheimer’s disease?

Armstrong¹

2013

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A b s t r a c t Since the earliest descriptions of Alzheimer's disease (AD), many theories have been advanced as to its cause. These include: (1) exacerbation of aging, (2) degeneration of anatomical pathways, including the cholinergic and cortico-cortical pathways, (3) an environmental factor such as exposure to aluminium, head injury, or malnutrition, (4) genetic factors including mutations of amyloid precursor protein (APP) and presenilin (PSEN) genes and allelic variation in apolipoprotein E (Apo E), (5) mitochondrial dysfunction, (6) a compromised blood brain barrier, (7) immune system dysfunction, and (8) infectious agents. This review discusses the evidence for and against each of these theories and concludes that AD is a multifactorial disorder in which genetic and environmental risk factors interact to increase the rate of normal aging ('allostatic load'). The consequent degeneration of neurons and blood vessels results in the formation of abnormally aggregated 'reactive' proteins such as b-amyloid (Ab) and tau. Gene mutations influence the outcome of age-related neuronal degeneration to cause early onset familial AD (EO-FAD

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Section: Theories Based On Agingmentioning

confidence: 90%

Section: Discussionmentioning

confidence: 99%

Review article What causes alzheimer’s disease?

Armstrong¹

2013

Self Cite

177

119

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“…Several studies have questioned whether neurodegenerative diseases are distinct or whether individual cases represent points in a 'continuum' of neuropathological change [8,19,20]. Hence, extensive overlap was observed between cases of AD and Parkinson's disease (PD), interpreted as the action of common pathogenic mechanisms within vulnerable neuronal populations [137].…”

Section: Limitations Of Existing Classificationsmentioning

confidence: 99%

“…Not only do these exclusions ignore a large quantity of data, a bias is also created in favour of 'typical' or 'pure' examples of a disorder, thus ignoring potential intermediate, overlap, or multiple pathology cases. As a consequence, a reconsideration of existing disease entities and a new descriptive framework which can accommodate overlap and heterogeneity may be necessary [8,19,54,62,128,137].…”

Section: Introductionmentioning

confidence: 99%

“…An alternative method of describing cases of neurodegenerative disease is to use a geometrical system based on 'ordination', i.e., by arranging individual cases with reference to a co-ordinate frame so that their similarities and differences can be spatially represented [8,15,22,140]. In such a system, there may be no attempt to name a disorder or to classify cases into any pre-existing groups, but only to plot individual cases with reference to the co-ordinate frame.…”

Section: Introductionmentioning

confidence: 99%

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Can neurodegenerative disease be defined by four ‘primary determinants’: anatomy, cells, molecules, and morphology?

Armstrong

2016

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A b s t r a c t , the anatomical pathways affected by the disease ('anatomy'), the cell populations affected ('cells'), the molecular pathology of 'signature' pathological lesions ('molecules'), and the morphological types of neurodegeneration ('morphology'). This review first discusses the limitations of existing classificatory systems and second provides evidence that the four primary determinants could be used as axes to define all cases of neurodegenerative disease.To illustrate the methodology, the primary determinants were applied to the study of a group of closely related tauopathy cases and to heterogeneity within frontotemporal lobar degeneration with .

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Continuum of phenotypes in hereditary motor and sensory neuropathy with proximal predominance and Charcot–Marie–Tooth patients with TFG mutation

Khani

Taheri

Shamshiri

et al. 2019

American J of Med Genetics Pt A

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Charcot-Marie-Tooth (CMT) is a common neuropathy, and hereditary motor and sensory neuropathy with proximal predominance (HMSN-P) is a recently described rare neuromuscular disease. Although many genes have been implicated for CMT, TFG is the only known HMSN-P-causing gene. Within the framework of diagnostic criteria, clinical variation is evident among CMT-diagnosed and also HMSN-P-diagnosed individuals. Mutations that cause p.(Pro285Leu) and p.(Gly269Val) in TFG were earlier reported as cause of HMSN-P in two Iranian pedigrees. Here, we report the identification of p.(Gly269Val) in TFG as cause of CMT in a large Iranian pedigree. The clinical features of patients of the three pedigrees are presented and critically compared. Similarities between the two HMSN-P-diagnosed pedigrees with different TFG mutations, and differences between the two differentially diagnosed pedigrees with the same p.(Gly269Val) mutation were evident. The clinical features of the HMSN-P pedigree with the p.(Pro285Leu) and the CMT pedigree with the p.(Gly269Val) mutation were clearly congruent with the respective diagnoses, whereas the features of the HMSN-P-diagnosed pedigree with the p.(Gly269Val) were intermediate between the other two pedigrees. It is therefore suggested that the clinical features of the three Iranian pedigrees with TFG mutations and diagnosed with HMSN-P or CMT represent a continuum.

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On the ‘classification’ of neurodegenerative disorders: discrete entities, overlap or continuum?

Cited by 37 publications

References 140 publications

Review article What causes alzheimer’s disease?

Review article What causes alzheimer’s disease?

Can neurodegenerative disease be defined by four ‘primary determinants’: anatomy, cells, molecules, and morphology?

Continuum of phenotypes in hereditary motor and sensory neuropathy with proximal predominance and Charcot–Marie–Tooth patients with TFG mutation

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