Neurodegenerative diseases - Revision history

Michael: vauthors -> authors

2020-05-24T20:32:30Z

vauthors -> authors

← Older revision		Revision as of 20:32, 24 May 2020
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	*Neuronal loss and gliosis (absent in minimal-change MSA).		*Neuronal loss and gliosis (absent in minimal-change MSA).
	*Alpha-synuclein-rich glial and neuronal cytoplasmic inclusions in white matter (finding at autopsy).<ref name=pmid18825660>{{Cite journal \| last1 = Wenning \| first1 = GK. \| last2 = Stefanova \| first2 = N. \| last3 = Jellinger \| first3 = KA. \| last4 = Poewe \| first4 = W. \| last5 = Schlossmacher \| first5 = MG. \| title = Multiple system atrophy: a primary oligodendrogliopathy. \| journal = Ann Neurol \| volume = 64 \| issue = 3 \| pages = 239-46 \| month = Sep \| year = 2008 \| doi = 10.1002/ana.21465 \| PMID = 18825660 }}</ref>		*Alpha-synuclein-rich glial and neuronal cytoplasmic inclusions in white matter (finding at autopsy).<ref name=pmid18825660>{{Cite journal \| last1 = Wenning \| first1 = GK. \| last2 = Stefanova \| first2 = N. \| last3 = Jellinger \| first3 = KA. \| last4 = Poewe \| first4 = W. \| last5 = Schlossmacher \| first5 = MG. \| title = Multiple system atrophy: a primary oligodendrogliopathy. \| journal = Ann Neurol \| volume = 64 \| issue = 3 \| pages = 239-46 \| month = Sep \| year = 2008 \| doi = 10.1002/ana.21465 \| PMID = 18825660 }}</ref>
	**Inclusions in oligodendrocytes (triangular, flame-like or sickle-shaped) are definitive diagnostic for MSA.<ref>MUN. 16 November 2010.</ref><ref>{{cite journal \|~~vauthors~~=Trojanowski JQ, Revesz T \|title=Proposed neuropathological criteria for the post mortem diagnosis of multiple system atrophy \|journal=Neuropathol. Appl. Neurobiol. \|volume=33 \|issue=6 \|pages=615–20 \|year=2007 \|pmid=17990994 \|doi=10.1111/j.1365-2990.2007.00907.x \|url=}}</ref>		**Inclusions in oligodendrocytes (triangular, flame-like or sickle-shaped) are definitive diagnostic for MSA.<ref>MUN. 16 November 2010.</ref><ref>{{cite journal \|authors=Trojanowski JQ, Revesz T \|title=Proposed neuropathological criteria for the post mortem diagnosis of multiple system atrophy \|journal=Neuropathol. Appl. Neurobiol. \|volume=33 \|issue=6 \|pages=615–20 \|year=2007 \|pmid=17990994 \|doi=10.1111/j.1365-2990.2007.00907.x \|url=}}</ref>
	**Inclusions usu. abundant in basal ganglia, substantia nigra, pontine nuclei, medulla and cerebellum.		**Inclusions usu. abundant in basal ganglia, substantia nigra, pontine nuclei, medulla and cerebellum.
	*Pons and Putamen:		*Pons and Putamen:

Jensflorian: /* Clinical perspective */ formatting

2019-10-24T06:47:33Z

Clinical perspective: formatting

← Older revision		Revision as of 06:47, 24 October 2019
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	=Clinical perspective=		=Clinical perspective=
	*Correlations between clinical signs and molecular can be poor.		*Correlations between clinical signs and molecular can be poor.
	**Example: The MAPT A152T gene mutation ~~in the MAPT gene~~ may cause clinical symptoms matching AD, [[Neurodegenerative diseases#Corticobasal degeneration\|CBD]], [[Neurodegenerative diseases#Progressive supranuclear palys\|PSP]] and [[Neurodegenerative diseases#Lewy body disease\|LBD]].<ref>{{Cite journal \| last1 = Coppola \| first1 = G. \| last2 = Chinnathambi \| first2 = S. \| last3 = Lee \| first3 = JJ. \| last4 = Dombroski \| first4 = BA. \| last5 = Baker \| first5 = MC. \| last6 = Soto-Ortolaza \| first6 = AI. \| last7 = Lee \| first7 = SE. \| last8 = Klein \| first8 = E. \| last9 = Huang \| first9 = AY. \| title = Evidence for a role of the rare p.A152T variant in MAPT in increasing the risk for FTD-spectrum and Alzheimer's diseases. \| journal = Hum Mol Genet \| volume = 21 \| issue = 15 \| pages = 3500-12 \| month = Aug \| year = 2012 \| doi = 10.1093/hmg/dds161 \| PMID = 22556362 }}</ref>		**Example: The MAPT A152T gene mutation may cause clinical symptoms matching AD, [[Neurodegenerative diseases#Corticobasal degeneration\|CBD]], [[Neurodegenerative diseases#Progressive supranuclear palys\|PSP]] and [[Neurodegenerative diseases#Lewy body disease\|LBD]].<ref>{{Cite journal \| last1 = Coppola \| first1 = G. \| last2 = Chinnathambi \| first2 = S. \| last3 = Lee \| first3 = JJ. \| last4 = Dombroski \| first4 = BA. \| last5 = Baker \| first5 = MC. \| last6 = Soto-Ortolaza \| first6 = AI. \| last7 = Lee \| first7 = SE. \| last8 = Klein \| first8 = E. \| last9 = Huang \| first9 = AY. \| title = Evidence for a role of the rare p.A152T variant in MAPT in increasing the risk for FTD-spectrum and Alzheimer's diseases. \| journal = Hum Mol Genet \| volume = 21 \| issue = 15 \| pages = 3500-12 \| month = Aug \| year = 2012 \| doi = 10.1093/hmg/dds161 \| PMID = 22556362 }}</ref>


	===Dementia general (mostly useless) DDx===		===Dementia general (mostly useless) DDx===

Jensflorian: /* Clinical perspective */ poor correlations

2019-10-24T06:47:05Z

Clinical perspective: poor correlations

← Older revision		Revision as of 06:47, 24 October 2019
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	=Clinical perspective=		=Clinical perspective=
	*Correlations between clinical signs and molecular can be poor.		*Correlations between clinical signs and molecular can be poor.
	**Example: The MAPT A152T gene mutation in the MAPT gene may cause clinical symptoms matching AD, [[Neurodegenerative diseases#Corticobasal degeneration\|CBD]], [[Neurodegenerative diseases#Progressive supranuclear palys\|PSP]] and [[Neurodegenerative diseases#Lewy body disease\|LBD]].		**Example: The MAPT A152T gene mutation in the MAPT gene may cause clinical symptoms matching AD, [[Neurodegenerative diseases#Corticobasal degeneration\|CBD]], [[Neurodegenerative diseases#Progressive supranuclear palys\|PSP]] and [[Neurodegenerative diseases#Lewy body disease\|LBD]].<ref>{{Cite journal \| last1 = Coppola \| first1 = G. \| last2 = Chinnathambi \| first2 = S. \| last3 = Lee \| first3 = JJ. \| last4 = Dombroski \| first4 = BA. \| last5 = Baker \| first5 = MC. \| last6 = Soto-Ortolaza \| first6 = AI. \| last7 = Lee \| first7 = SE. \| last8 = Klein \| first8 = E. \| last9 = Huang \| first9 = AY. \| title = Evidence for a role of the rare p.A152T variant in MAPT in increasing the risk for FTD-spectrum and Alzheimer's diseases. \| journal = Hum Mol Genet \| volume = 21 \| issue = 15 \| pages = 3500-12 \| month = Aug \| year = 2012 \| doi = 10.1093/hmg/dds161 \| PMID = 22556362 }}</ref>


	===Dementia general (mostly useless) DDx===		===Dementia general (mostly useless) DDx===

Jensflorian: /* Clinical perspective */ Poor clinical - molecular correlations

2019-10-24T06:46:12Z

Clinical perspective: Poor clinical - molecular correlations

← Older revision		Revision as of 06:46, 24 October 2019
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	=Clinical perspective=		=Clinical perspective=
			*Correlations between clinical signs and molecular can be poor.
			**Example: The MAPT A152T gene mutation in the MAPT gene may cause clinical symptoms matching AD, [[Neurodegenerative diseases#Corticobasal degeneration\|CBD]], [[Neurodegenerative diseases#Progressive supranuclear palys\|PSP]] and [[Neurodegenerative diseases#Lewy body disease\|LBD]].

	===Dementia general (mostly useless) DDx===		===Dementia general (mostly useless) DDx===
	*[[Alzheimer's disease\|Alzheimer's]] dementia - most common.		*[[Alzheimer's disease\|Alzheimer's]] dementia - most common.

Jensflorian: /* Molecular */ Update

2019-10-24T06:39:18Z

Molecular: Update

← Older revision		Revision as of 06:39, 24 October 2019
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	===Molecular===		===Molecular===
	The CJD phenotype is associated with a PRNP D178N mutation and valine polymorphism at codon 129 (D178N-129V). A Met129 polymorphism will cause Fatal familiar insomnia in the setting of the same PRNP D178N mutation. <ref>{{Cite journal \| last1 = Goldfarb \| first1 = LG. \| last2 = Petersen \| first2 = RB. \| last3 = Tabaton \| first3 = M. \| last4 = Brown \| first4 = P. \| last5 = LeBlanc \| first5 = AC. \| last6 = Montagna \| first6 = P. \| last7 = Cortelli \| first7 = P. \| last8 = Julien \| first8 = J. \| last9 = Vital \| first9 = C. \| title = Fatal familial insomnia and familial Creutzfeldt-Jakob disease: disease phenotype determined by a DNA polymorphism. \| journal = Science \| volume = 258 \| issue = 5083 \| pages = 806-8 \| month = Oct \| year = 1992 \| doi = 10.1126/science.1439789 \| PMID = 1439789 }}</ref>		*The CJD phenotype is associated with a PRNP D178N mutation and valine polymorphism at codon 129 (D178N-129V).
			** Note: A Met129 polymorphism will cause Fatal familiar insomnia in the setting of the same PRNP D178N mutation. <ref>{{Cite journal \| last1 = Goldfarb \| first1 = LG. \| last2 = Petersen \| first2 = RB. \| last3 = Tabaton \| first3 = M. \| last4 = Brown \| first4 = P. \| last5 = LeBlanc \| first5 = AC. \| last6 = Montagna \| first6 = P. \| last7 = Cortelli \| first7 = P. \| last8 = Julien \| first8 = J. \| last9 = Vital \| first9 = C. \| title = Fatal familial insomnia and familial Creutzfeldt-Jakob disease: disease phenotype determined by a DNA polymorphism. \| journal = Science \| volume = 258 \| issue = 5083 \| pages = 806-8 \| month = Oct \| year = 1992 \| doi = 10.1126/science.1439789 \| PMID = 1439789 }}</ref>

Jensflorian: /* Molecular */ Update

2019-10-24T06:38:10Z

Molecular: Update

← Older revision		Revision as of 06:38, 24 October 2019
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	===Molecular===		===Molecular===
	The CJD phenotype is associated with a ~~PrP~~ D178N mutation and valine polymorphism at codon 129 (D178N-129V).<ref>{{Cite journal \| last1 = Goldfarb \| first1 = LG. \| last2 = Petersen \| first2 = RB. \| last3 = Tabaton \| first3 = M. \| last4 = Brown \| first4 = P. \| last5 = LeBlanc \| first5 = AC. \| last6 = Montagna \| first6 = P. \| last7 = Cortelli \| first7 = P. \| last8 = Julien \| first8 = J. \| last9 = Vital \| first9 = C. \| title = Fatal familial insomnia and familial Creutzfeldt-Jakob disease: disease phenotype determined by a DNA polymorphism. \| journal = Science \| volume = 258 \| issue = 5083 \| pages = 806-8 \| month = Oct \| year = 1992 \| doi = 10.1126/science.1439789 \| PMID = 1439789 }}</ref>		The CJD phenotype is associated with a PRNP D178N mutation and valine polymorphism at codon 129 (D178N-129V). A Met129 polymorphism will cause Fatal familiar insomnia in the setting of the same PRNP D178N mutation. <ref>{{Cite journal \| last1 = Goldfarb \| first1 = LG. \| last2 = Petersen \| first2 = RB. \| last3 = Tabaton \| first3 = M. \| last4 = Brown \| first4 = P. \| last5 = LeBlanc \| first5 = AC. \| last6 = Montagna \| first6 = P. \| last7 = Cortelli \| first7 = P. \| last8 = Julien \| first8 = J. \| last9 = Vital \| first9 = C. \| title = Fatal familial insomnia and familial Creutzfeldt-Jakob disease: disease phenotype determined by a DNA polymorphism. \| journal = Science \| volume = 258 \| issue = 5083 \| pages = 806-8 \| month = Oct \| year = 1992 \| doi = 10.1126/science.1439789 \| PMID = 1439789 }}</ref>

Jensflorian: /* Creutzfeldt-Jakob disease */ Molecular

2019-10-24T06:34:00Z

Creutzfeldt-Jakob disease: Molecular

← Older revision		Revision as of 06:34, 24 October 2019
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	Note:		Note:
	*Spongiform changes may be seen in [[ALS]], [[Alzheimer's disease]] and Lewy body disease (e.g. [[Parkinson disease]]); however, the changes are only in the upper cortex and not diffuse.<ref>{{Ref APBR\|419 Q4}}</ref>		*Spongiform changes may be seen in [[ALS]], [[Alzheimer's disease]] and Lewy body disease (e.g. [[Parkinson disease]]); however, the changes are only in the upper cortex and not diffuse.<ref>{{Ref APBR\|419 Q4}}</ref>

			===Molecular===
			The CJD phenotype is associated with a PrP D178N mutation and valine polymorphism at codon 129 (D178N-129V).<ref>{{Cite journal \| last1 = Goldfarb \| first1 = LG. \| last2 = Petersen \| first2 = RB. \| last3 = Tabaton \| first3 = M. \| last4 = Brown \| first4 = P. \| last5 = LeBlanc \| first5 = AC. \| last6 = Montagna \| first6 = P. \| last7 = Cortelli \| first7 = P. \| last8 = Julien \| first8 = J. \| last9 = Vital \| first9 = C. \| title = Fatal familial insomnia and familial Creutzfeldt-Jakob disease: disease phenotype determined by a DNA polymorphism. \| journal = Science \| volume = 258 \| issue = 5083 \| pages = 806-8 \| month = Oct \| year = 1992 \| doi = 10.1126/science.1439789 \| PMID = 1439789 }}</ref>


	<gallery>		<gallery>

Jensflorian: /* General */ Prion strains

2019-10-24T06:28:21Z

General: Prion strains

← Older revision		Revision as of 06:28, 24 October 2019
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	*Misfolded cell-surface protein called PrP<sup>SC</sup>.		*Misfolded cell-surface protein called PrP<sup>SC</sup>.
	**This is derived from the protein ''PrP<sup>C</sup>'' encoded by the ''PRNP'' gene.		**This is derived from the protein ''PrP<sup>C</sup>'' encoded by the ''PRNP'' gene.
			*Different genetics strains are associated with varying clinical phenotype.<ref>{{Cite journal \| last1 = Monari \| first1 = L. \| last2 = Chen \| first2 = SG. \| last3 = Brown \| first3 = P. \| last4 = Parchi \| first4 = P. \| last5 = Petersen \| first5 = RB. \| last6 = Mikol \| first6 = J. \| last7 = Gray \| first7 = F. \| last8 = Cortelli \| first8 = P. \| last9 = Montagna \| first9 = P. \| title = Fatal familial insomnia and familial Creutzfeldt-Jakob disease: different prion proteins determined by a DNA polymorphism. \| journal = Proc Natl Acad Sci U S A \| volume = 91 \| issue = 7 \| pages = 2839-42 \| month = Mar \| year = 1994 \| doi = 10.1073/pnas.91.7.2839 \| PMID = 7908444 }}</ref>


	Includes:		Includes:

Jensflorian: /* Common diseases */ asyn -> Prion?

2019-10-09T10:22:33Z

Common diseases: asyn -> Prion?

← Older revision		Revision as of 10:22, 9 October 2019
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	Prionopathies:		Prionopathies:
	*Creutzfeldt-Jakob disease (PrP).		*Creutzfeldt-Jakob disease (PrP).
			'''Note:''' Some people consider α-synuclein as a prion-like protein.<ref>{{Cite journal \| last1 = Watts \| first1 = JC. \| title = Calling α-synuclein a prion is scientifically justifiable. \| journal = Acta Neuropathol \| volume = 138 \| issue = 4 \| pages = 505-508 \| month = Oct \| year = 2019 \| doi = 10.1007/s00401-019-02058-0 \| PMID = 31407029 }}</ref>


	====Table====		====Table====

Jensflorian: /* Microscopic */ +images

2019-04-08T10:30:59Z

Microscopic: +images

← Older revision		Revision as of 10:30, 8 April 2019
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	File:213-09-11-Congo Red Lewy body.tif\|Lewy body		File:213-09-11-Congo Red Lewy body.tif\|Lewy body
	File:Amyloid plaques alzheimer disease HE stain.jpg\|Cotton wool plaques		File:Amyloid plaques alzheimer disease HE stain.jpg\|Cotton wool plaques
			File:Neurofibrillary tangles in the Hippocampus of an old person with Alzheimer-related pathology, HE 3.JPG\|Neurofibrillary tangles
			File:SpongiformChangeCJD.jpg \| Spongiform vacuolation
	</gallery>		</gallery>