Neurodegenerative Disease: Difference between revisions
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== Introduction == | == Introduction == | ||
[[File:Mobility aids.jpeg|thumb|450x450px| | [[File:Mobility aids.jpeg|thumb|450x450px|NDDs often affect mobility]] | ||
Neurodegenerative diseases are diverse conditions characterized by selective dysfunction and ongoing loss of [[Neurone|neurons]], [[Glial Cells|glial cells]] and the [[Neural Circuit|neural networks]] in the [[Brain Anatomy|brain]] and [[Spinal cord anatomy|spinal cord]]. Accordingly they causes diverse problems examples being with movement (called [[Ataxia|ataxias]]), mental functioning (called [[Dementia|dementias]]) and a person's ability to move, speak and [[Breathing Pattern Disorders|breathe.]] | Neurodegenerative diseases (NDD) are diverse conditions characterized by selective dysfunction and ongoing loss of [[Neurone|neurons]], [[Glial Cells|glial cells]] and the [[Neural Circuit|neural networks]] in the [[Brain Anatomy|brain]] and [[Spinal cord anatomy|spinal cord]]. Accordingly they causes diverse problems examples being with movement (called [[Ataxia|ataxias]]), mental functioning (called [[Dementia|dementias]]) and a person's ability to move, speak and [[Breathing Pattern Disorders|breathe.]] NDD are incurable and debilitating conditions, and are becoming increasingly prevalent in part due to global population ageing<ref name=":0" /><ref>Technology networks [https://www.technologynetworks.com/neuroscience/articles/pathophysiology-of-neurodegenerative-diseases-new-approaches-for-investigation-and-recent-advances-357227 Pathophysiology of Neurodegenerative Diseases: New Approaches for Investigation and Recent Advances] Available:https://www.technologynetworks.com/neuroscience/articles/pathophysiology-of-neurodegenerative-diseases-new-approaches-for-investigation-and-recent-advances-357227 (accessed 20.1.2023)</ref> NDD impact many families - these disorders are not easy for the individual nor their loved ones. | ||
They are diverse in their pathophysiology. Examples of | They are diverse in their pathophysiology. Examples of NDD are: | ||
* [[Alzheimer's Disease|Alzheimer’s disease]] (AD) and other dementias | * [[Alzheimer's Disease|Alzheimer’s disease]] (AD) and other dementias | ||
* [[Parkinson's|Parkinson’s disease]] (PD) and [[Parkinsonism]] | * [[Parkinson's|Parkinson’s disease]] (PD) and [[Parkinsonism]] | ||
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== Epidemiology == | == Epidemiology == | ||
[[File:Man-walker dementia.jpg|alt=|thumb|Man with dementia]]In 2019, roughly 50 million people globally had a | [[File:Man-walker dementia.jpg|alt=|thumb|Man with dementia]]In 2019, roughly 50 million people globally had a NDD, often resulting in dementia. This figure is predicted to rise to 152 million by 2060. These disorders are found among all age groups and in all geographical regions. | ||
* The overall prevalence of | * The overall prevalence of NDD leading to dementia in Europe is 1.6% and 1% for males and females respectively in the 65-69 age class, rising to 11% and 12.6% in the 85-89 age class.<ref>Armstrong R. [https://www.termedia.pl/What-causes-neurodegenerative-disease-,20,41093,1,1.html What causes neurodegenerative disease?.] Folia Neuropathologica. 2020 Jan 1;58(2):93-112.Available:https://www.termedia.pl/What-causes-neurodegenerative-disease-,20,41093,1,1.html (accessed 20.1.2023)</ref> | ||
* A WHO report sends a clear message: unless immediate action is taken globally, the neurological burden is expected to become an even more serious and unmanageable threat to public health"<ref>WHO Chapter 4 Available from: https://www.who.int/mental_health/neurology/chapter_4_neuro_disorders_public_h_challenges.pdf?ua=1 (accessed 14.12.2020)</ref> | * A WHO report sends a clear message: unless immediate action is taken globally, the neurological burden is expected to become an even more serious and unmanageable threat to public health"<ref>WHO Chapter 4 Available from: https://www.who.int/mental_health/neurology/chapter_4_neuro_disorders_public_h_challenges.pdf?ua=1 (accessed 14.12.2020)</ref> | ||
== Etiology == | == Etiology == | ||
[[File:Dementia 2.jpg|alt=|thumb|Dementia client]]The majority of | [[File:Dementia 2.jpg|alt=|thumb|Dementia client]]The majority of NDDs are due to a combination of genetic and environmental factors. This makes it difficult to predict who will develop disease. The greatest known risk factor for many NDDs is age. | ||
* Some | * Some NDDs are caused by inherited genetic changes. These disorders run in [[Genetic Conditions and Inheritance|families]]: the faulty gene is transmitted from parents to their children.eg. Huntington’s disease, and rare cases of motor neurone disease and Alzheimer’s disease. | ||
* Environmental factors also contribute to | * Environmental factors also contribute to NDDs. eg. There is evidence linking Parkinson’s disease with long-term exposure to pesticides, [[Heavy Metal Toxicity|toxins]] and chemicals. | ||
== Pathology == | == Pathology == | ||
[[File:Mononuclear phagocytes in Alzheimer’s disease.jpg|400x400px|alt=|thumb|Amyloid plaque in AD]] | [[File:Mononuclear phagocytes in Alzheimer’s disease.jpg|400x400px|alt=|thumb|Amyloid plaque in AD]]NDDs are characterized by progressive loss of selectively vulnerable populations of neurons, which contrasts with select static neuronal loss because of [[Metabolic and Endocrine Disorders|metabolic]] or toxic disorders. The most common neurodegenerative disorders are caused by protein abnormalities and include [[Amyloidosis|amyloidoses,]] [[Tauopathy|tauopathies]], and [[Synucleinopathy|synucleinopathies]]. Note that often these protein abnormalities are present before the onset of clinical features. | ||
NDDs can be classified according to: | |||
# Primary clinical features, include: [[Alzheimer's Disease|Alzheimer’s disease]] (AD); [[Dementia]]; [[Parkinson's|Parkinson’s disease]] (PD) [[Parkinsonism]], [[Motor Neurone Disease MND|Motor Neurone Disease]]; [[Huntington Disease|Huntington’s disease]] (HD) | # Primary clinical features, include: [[Alzheimer's Disease|Alzheimer’s disease]] (AD); [[Dementia]]; [[Parkinson's|Parkinson’s disease]] (PD) [[Parkinsonism]], [[Motor Neurone Disease MND|Motor Neurone Disease]]; [[Huntington Disease|Huntington’s disease]] (HD) | ||
# Anatomic distribution of neurodegeneration, include: [[Frontotemporal Dementia|Frontotemporal dementia]]; [[Extrapyramidal and Pyramidal Tracts|Extrapyramidal]] disorders; Spinocerebellar [[ataxia]]; [[Spinal Muscular Atrophy (SMA)|Spinal muscular atrophy]] (SMA) | # Anatomic distribution of neurodegeneration, include: [[Frontotemporal Dementia|Frontotemporal dementia]]; [[Extrapyramidal and Pyramidal Tracts|Extrapyramidal]] disorders; Spinocerebellar [[ataxia]]; [[Spinal Muscular Atrophy (SMA)|Spinal muscular atrophy]] (SMA) | ||
# Principal molecular abnormality, include: Prion disease; Synucleinopathies. Amyloidoses,<ref name=":3" /><ref name=":0" />. | # Principal molecular abnormality, include: Prion disease; Synucleinopathies. Amyloidoses,<ref name=":3" /><ref name=":0" />. | ||
Earlier classifications focused on the clinical presentation, whereas as more and more | Earlier classifications focused on the clinical presentation, whereas as more and more NDDs are understood at a biochemical level, classifications have shifted towards the underlying pathological processes.<ref>Radiopedia [https://radiopaedia.org/articles/neurodegenerative-disease Neurodegenerative disease] Available: https://radiopaedia.org/articles/neurodegenerative-disease<nowiki/>(accessed 21.1.2023)</ref> | ||
== Diagnosis == | == Diagnosis == | ||
[[File:Age a risk factor.jpeg|thumb|Ageing is a risk factor for NDD]] | |||
NDDs are often presented as a distinct entity, however there is often overlap. None of the neurodegenerative disorders have perfect diagnostic accuracy. While pathological analysis is considered to be the gold standard in a wide spectrum of diseases, it cannot be applied to neurological processes. Studying disease heterogeneity at autopsy is key to understanding discrepancies between clinical and pathological diagnoses. This is a critical concept because there are many efforts to develop biomarkers to diagnose these diseases and to monitor disease progression in clinical trials<ref>Gómez-Río M, Caballero MM, Gorriz Saez JM, Mínguez-Castellanos A. [https://pubmed.ncbi.nlm.nih.gov/26567736/ Diagnosis of neurodegenerative diseases: the clinical approach.] Current Alzheimer research. 2016 May 1;13(5):469-74. Available:https://pubmed.ncbi.nlm.nih.gov/26567736/ (accessed 21.1.20230</ref><ref name=":2">Dugger BN, Dickson DW. [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5495060/ Pathology of neurodegenerative diseases.] Cold Spring Harbor perspectives in biology. 2017 Jul 1;9(7):a028035.Available from:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5495060/ (accessed 14.12.2020)</ref> | |||
== Treatment == | == Treatment == | ||
There are currently no drugs to prevent or cure NDDs. Treatment aims to control symptoms and includes: | |||
There are currently no drugs to prevent or cure | |||
* Medications | * Medications | ||
* Physiotherapy eg for gait training | * Physiotherapy eg for gait training | ||
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== Physiotherapy == | == Physiotherapy == | ||
[[File: | [[File:Motor neurone disease.jpeg|thumb|308x308px|Wheelchair assessment|alt=]] | ||
NDDs are a group of progressive neurological diseases that cause worsening motor, cognitive and autonomic dysfunction over time. | |||
* Recent advances in international research, best-practice evidence, and clinical guidelines have underscored the role of physiotherapy in the management of neurodegenerative disorders. | * Recent advances in international research, best-practice evidence, and clinical guidelines have underscored the role of physiotherapy in the management of neurodegenerative disorders. | ||
* Physiotherapy guidelines based on systematic reviews of best available evidence have since been published for many of these conditions<ref>MNCPD The role of physiotherapy in the management of neurodegenerative disorders Available from:https://www.mncpd.com.au/modules/the-role-of-physiotherapy-in-the-management-of-neurodegenerative-disorders (accessed 15.12.2020)</ref>. | * Physiotherapy guidelines based on systematic reviews of best available evidence have since been published for many of these conditions<ref>MNCPD The role of physiotherapy in the management of neurodegenerative disorders Available from:https://www.mncpd.com.au/modules/the-role-of-physiotherapy-in-the-management-of-neurodegenerative-disorders (accessed 15.12.2020)</ref>. | ||
Revision as of 03:14, 21 January 2023
Original Editor - Lucinda hampton
Top Contributors - Lucinda hampton and Kim Jackson
Introduction[edit | edit source]
Neurodegenerative diseases (NDD) are diverse conditions characterized by selective dysfunction and ongoing loss of neurons, glial cells and the neural networks in the brain and spinal cord. Accordingly they causes diverse problems examples being with movement (called ataxias), mental functioning (called dementias) and a person's ability to move, speak and breathe. NDD are incurable and debilitating conditions, and are becoming increasingly prevalent in part due to global population ageing[1][2] NDD impact many families - these disorders are not easy for the individual nor their loved ones.
They are diverse in their pathophysiology. Examples of NDD are:
- Alzheimer’s disease (AD) and other dementias
- Parkinson’s disease (PD) and Parkinsonism
- Prion disease
- Synucleinopathies
- Motor neurone diseases (MND)
- Huntington’s disease (HD)
- Spinocerebellar ataxia (SCA)
- Spinal muscular atrophy (SMA)[3][1].
Epidemiology[edit | edit source]
In 2019, roughly 50 million people globally had a NDD, often resulting in dementia. This figure is predicted to rise to 152 million by 2060. These disorders are found among all age groups and in all geographical regions.
- The overall prevalence of NDD leading to dementia in Europe is 1.6% and 1% for males and females respectively in the 65-69 age class, rising to 11% and 12.6% in the 85-89 age class.[4]
- A WHO report sends a clear message: unless immediate action is taken globally, the neurological burden is expected to become an even more serious and unmanageable threat to public health"[5]
Etiology[edit | edit source]
The majority of NDDs are due to a combination of genetic and environmental factors. This makes it difficult to predict who will develop disease. The greatest known risk factor for many NDDs is age.
- Some NDDs are caused by inherited genetic changes. These disorders run in families: the faulty gene is transmitted from parents to their children.eg. Huntington’s disease, and rare cases of motor neurone disease and Alzheimer’s disease.
- Environmental factors also contribute to NDDs. eg. There is evidence linking Parkinson’s disease with long-term exposure to pesticides, toxins and chemicals.
Pathology[edit | edit source]
NDDs are characterized by progressive loss of selectively vulnerable populations of neurons, which contrasts with select static neuronal loss because of metabolic or toxic disorders. The most common neurodegenerative disorders are caused by protein abnormalities and include amyloidoses, tauopathies, and synucleinopathies. Note that often these protein abnormalities are present before the onset of clinical features.
NDDs can be classified according to:
- Primary clinical features, include: Alzheimer’s disease (AD); Dementia; Parkinson’s disease (PD) Parkinsonism, Motor Neurone Disease; Huntington’s disease (HD)
- Anatomic distribution of neurodegeneration, include: Frontotemporal dementia; Extrapyramidal disorders; Spinocerebellar ataxia; Spinal muscular atrophy (SMA)
- Principal molecular abnormality, include: Prion disease; Synucleinopathies. Amyloidoses,[3][1].
Earlier classifications focused on the clinical presentation, whereas as more and more NDDs are understood at a biochemical level, classifications have shifted towards the underlying pathological processes.[6]
Diagnosis[edit | edit source]
NDDs are often presented as a distinct entity, however there is often overlap. None of the neurodegenerative disorders have perfect diagnostic accuracy. While pathological analysis is considered to be the gold standard in a wide spectrum of diseases, it cannot be applied to neurological processes. Studying disease heterogeneity at autopsy is key to understanding discrepancies between clinical and pathological diagnoses. This is a critical concept because there are many efforts to develop biomarkers to diagnose these diseases and to monitor disease progression in clinical trials[7][8]
Treatment[edit | edit source]
There are currently no drugs to prevent or cure NDDs. Treatment aims to control symptoms and includes:
- Medications
- Physiotherapy eg for gait training
- Speech pathology eg for swallowing and speech training
- Occupational therapy eg for home modifications
- Psychiatry eg for depression.
Research is ongoing to find much-needed new treatments for neurodegenerative disorders[9]. A novel treatments uses stem cells to replace the neurons that have died.[10]
Physiotherapy[edit | edit source]
NDDs are a group of progressive neurological diseases that cause worsening motor, cognitive and autonomic dysfunction over time.
- Recent advances in international research, best-practice evidence, and clinical guidelines have underscored the role of physiotherapy in the management of neurodegenerative disorders.
- Physiotherapy guidelines based on systematic reviews of best available evidence have since been published for many of these conditions[11].
- Most patients are referred to physiotherapists for this treatment.
- See individual links for physiotherapy management.
References[edit | edit source]
- ↑ 1.0 1.1 1.2 Gitler AD, Dhillon P, Shorter J. Neurodegenerative disease: models, mechanisms, and a new hope.Available from;https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5451177/ (last accessed 14.12.2020)
- ↑ Technology networks Pathophysiology of Neurodegenerative Diseases: New Approaches for Investigation and Recent Advances Available:https://www.technologynetworks.com/neuroscience/articles/pathophysiology-of-neurodegenerative-diseases-new-approaches-for-investigation-and-recent-advances-357227 (accessed 20.1.2023)
- ↑ 3.0 3.1 JPND research WHAT IS NEURODEGENERATIVE DISEASE? Available from;https://www.neurodegenerationresearch.eu/what/ (last accessed 14.12.2020)
- ↑ Armstrong R. What causes neurodegenerative disease?. Folia Neuropathologica. 2020 Jan 1;58(2):93-112.Available:https://www.termedia.pl/What-causes-neurodegenerative-disease-,20,41093,1,1.html (accessed 20.1.2023)
- ↑ WHO Chapter 4 Available from: https://www.who.int/mental_health/neurology/chapter_4_neuro_disorders_public_h_challenges.pdf?ua=1 (accessed 14.12.2020)
- ↑ Radiopedia Neurodegenerative disease Available: https://radiopaedia.org/articles/neurodegenerative-disease(accessed 21.1.2023)
- ↑ Gómez-Río M, Caballero MM, Gorriz Saez JM, Mínguez-Castellanos A. Diagnosis of neurodegenerative diseases: the clinical approach. Current Alzheimer research. 2016 May 1;13(5):469-74. Available:https://pubmed.ncbi.nlm.nih.gov/26567736/ (accessed 21.1.20230
- ↑ Dugger BN, Dickson DW. Pathology of neurodegenerative diseases. Cold Spring Harbor perspectives in biology. 2017 Jul 1;9(7):a028035.Available from:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5495060/ (accessed 14.12.2020)
- ↑ WEHI Neurological Disorders Available from:https://www.wehi.edu.au/research-diseases/development-and-ageing/neurodegenerative-disorders (last accessed 14.12.2020)
- ↑ Frontiers What are Neurodegenerative Diseases and How Do They Affect the Brain? Available from:https://kids.frontiersin.org/article/10.3389/frym.2018.00070 (accessed 14.12.2020)
- ↑ MNCPD The role of physiotherapy in the management of neurodegenerative disorders Available from:https://www.mncpd.com.au/modules/the-role-of-physiotherapy-in-the-management-of-neurodegenerative-disorders (accessed 15.12.2020)
