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| Linje 72: |
Linje 72: |
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| − | '''Genetic subtypes'''
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| − | {| class="wikitable" style="text-align: left;"
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| − | ! Type
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| − | ! Subtype
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| − | ! [[OMIM]]
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| − | ! [[Gene]]
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| − | ! style="width:7em"|[[Locus (genetics)|Locus]]
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| − | ! style="width:10em"|[[Heredity|Inheritance]]
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| − | ! Notes
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| − | |-
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| − | | rowspan="6" | '''CMT1''' || CMT1A || {{OMIM2|118220}} || ''[[PMP22]]'' || 17p11.2 || [[Autosomal dominant]] || The most common form of the disease, 70–80% of Type 1 patients. Average [[Nerve conduction velocity|NCV]]: 20–25 [[Metre per second|m/s]]. Allelic with subtype CMT1E. When associated with subtype CMT1B (causing essential tremor and ataxia), it is called '''[[Roussy–Lévy syndrome]]'''.
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| − | |-
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| − | | CMT1B || {{OMIM2|118200}} || ''[[MPZ]]'' || 1q23.3 || [[Autosomal dominant]] || Responsible for 5–10% of Type 1 patients. Average [[Nerve conduction velocity|NCV]]: < 15 [[Metre per second|m/s]]
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| − | |-
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| − | | CMT1C || {{OMIM2|601098}} || ''[[LITAF]]'' || 16p13.13 || [[Autosomal dominant]] || Usually shows up in infancy. Average [[Nerve conduction velocity|NCV]]: 26–42 [[Metre per second|m/s]]. Symptoms are identical to CMT1A.
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| − | |-
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| − | | CMT1D || {{OMIM2|607678}} || ''[[EGR2]]'' || 10q21.3 || [[Autosomal dominant]] || Average [[Nerve conduction velocity|NCV]]: 15–20 [[m/s]]
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| − | |-
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| − | | CMT1E || {{OMIM2|118300}} || ''[[PMP22]]'' || 17p11.2 || [[Autosomal dominant]] || Characterised by [[demyelination]] and [[deafness|loss of hearing]]; allelic with subtype CMT1A
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| − | |-
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| − | | CMT1F || {{OMIM2|607734}} || ''[[NEFL]]'' || 8p21.2 || [[Autosomal dominant]] ||
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| − | |-
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| − | | rowspan="18" | '''CMT2''' || CMT2A1 || {{OMIM2|118210}} || ''[[KIF1B]]'' || 1p36.22 || [[Autosomal dominant]] ||
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| − | |-
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| − | | CMT2A2 || {{OMIM2|609260}} || ''[[MFN2]]'' || 1p36.22 || [[Autosomal dominant]] ||
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| − | |-
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| − | | CMT2B || {{OMIM2|600882}} || ''[[RAB7A]]''<br />''[[RAB7B]]'' || 3q21.3 || [[Autosomal dominant]] ||
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| − | |-
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| − | | CMT2B1 || {{OMIM2|605588}} || ''[[LMNA]]'' || 1q22 || [[Autosomal recessive]] || A [[laminopathy]]
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| − | |-
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| − | | CMT2B2 || {{OMIM2|605589}} || ''[[MED25]]'' || 19q13.33 || [[Autosomal dominant]] ||
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| − | |-
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| − | | CMT2C || {{OMIM2|606071}} || ''[[TRPV4]]'' || 12q24.11 || [[Autosomal dominant]] || May cause vocal cord, diaphragm, and distal weakness
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| − | |-
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| − | | CMT2D || {{OMIM2|601472}} || ''[[GARS]]''|| 7p14.3 || [[Autosomal dominant]] || Symptoms are more severe in the upper extremities (hands), which is atypical for CMT
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| − | |-
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| − | | CMT2E || {{OMIM2|607684}} || ''[[NEFL]]'' || 8p21.2 || [[Autosomal dominant]] ||
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| − | |-
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| − | | CMT2F || {{OMIM2|606595}} || ''[[HSPB1]]'' || 7q11.23 || [[Autosomal dominant]] ||
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| − | |-
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| − | | CMT2G || {{OMIM2|608591}} || ? || 12q12–q13.3 || [[Autosomal dominant]] ||
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| − | |-
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| − | | CMT2H || {{OMIM2|607731}} || ''[[GDAP1]]'' || 8q21.11 || [[Autosomal dominant]] || Allelic with subtype CMT2K
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| − | |-
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| − | | CMT2I || {{OMIM2|607677}} || ''[[MPZ]]'' || 1q23.3 || [[Autosomal dominant]] || Allelic with subtype CMT2J and forms of CMT3
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| − | |-
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| − | | CMT2J || {{OMIM2|607736}} || ''[[MPZ]]'' || 1q23.3 || [[Autosomal dominant]] || Allelic with subtype CMT2I and forms of CMT3
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| − | |-
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| − | | CMT2K || {{OMIM2|607831}} || ''[[GDAP1]]'' || 8q21.11 || [[Autosomal dominant]] || Allelic with subtype CMT2H
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| − | |-
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| − | | CMT2L || {{OMIM2|608673}} || ''[[HSPB8]]'' || 12q24.23 || [[Autosomal dominant]] ||
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| − | |-
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| − | | CMT2M || {{OMIM2|606482}} || ''[[DNM2]]'' || 19p13.2 || [[Autosomal dominant]] || Full name: ''CMT2M, included''; more commonly classified as subtype CMTDIB
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| − | |-
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| − | | CMT2O || {{OMIM2|614228}} || ''[[DYNC1H1]]'' || 14q32.31 || [[Autosomal dominant]] || Allelic with [[spinal muscular atrophy with lower extremity predominance]]
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| − | |-
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| − | | CMT2P || {{OMIM2|614436}} || ''[[LRSAM1]]'' || 9q33.3 || [[Autosomal dominant]]<br />[[Autosomal recessive]] || Juvenile or adult onset, slowly progressive
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| − | |-
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| − | | '''CMT3''' || CMT3 || {{OMIM2|145900}} || ''[[MPZ]]''<br />''[[EGR2]]''<br />''[[PMP22]]''<br />''[[PRX (gene)|PRX]]'' || 1q23.3<br />10q21.3<br />17p12<br />19q13.2 || [[Autosomal dominant]]<br />[[Autosomal recessive]] || More commonly known as '''[[Dejerine–Sottas disease]]'''; subtype CMT4F sometimes included here
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| − | |-
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| − | | rowspan="11" | '''CMT4''' || CMT4A || {{OMIM2|214400}} || ''[[GDAP1]]'' || 8q21.11 || [[Autosomal recessive]] || Allelic with subtype CMTRIA
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| − | |-
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| − | | CMT4B1 || {{OMIM2|601382}} || ''[[MTMR2]]'' || 11q21 || [[Autosomal recessive]] ||
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| − | |-
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| − | | CMT4B2 || {{OMIM2|604563}} || ''[[SBF2]]'' || 11p15.4 || [[Autosomal recessive]] ||
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| − | |-
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| − | | CMT4B3 || {{OMIM2|615284}} || ''[[SBF1]]'' || 22q13.33 || [[Autosomal recessive]] ||
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| − | |-
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| − | | CMT4C || {{OMIM2|601596}} || ''[[SH3TC2]]'' || 5q32 || [[Autosomal recessive]] || May lead to respiratory compromise
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| − | |-
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| − | | CMT4D || {{OMIM2|601455}} || ''[[NDRG1]]'' || 8q24.3 || [[Autosomal recessive]] || Characterised by [[demyelination]] and [[deafness|loss of hearing]]
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| − | |-
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| − | | CMT4E || {{OMIM2|605253}} || ''[[MPZ]]''<br />''[[EGR2]]'' || 1q23.3<br />10q21.3 || [[Autosomal recessive]] || Also known as '''congenital hypomyelinating neuropathy'''; phenotype largely overlapping with subtype CMT4F
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| − | |-
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| − | | CMT4F || {{OMIM2|145900}} || ''[[PRX (gene)|PRX]]'' || 19q13.2 || [[Autosomal recessive]] || Phenotype largely overlapping with subtype CMT4E; may be the same as CMT3
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| − | |-
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| − | | CMT4G || {{OMIM2|605285}} || ''[[HK1]]'' || 10q22.1 || [[Autosomal recessive]] || Also known as '''Russe-type hereditary motor and sensory neuropathy''' (HMSNR); second most common cause of CMT in the Spanish [[Romani people|Roma]] population
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| − | |-
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| − | | CMT4H || {{OMIM2|609311}} || ''[[FGD4]]'' || 12p11.21 || [[Autosomal recessive]] ||
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| − | |-
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| − | | CMT4J || {{OMIM2|611228}} || ''[[FIG4]]'' || 6q21 || [[Autosomal recessive]] || Allelic to [[amyotrophic lateral sclerosis|amyotrophic lateral sclerosis type 11]]
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| − | |-
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| − | | '''CMT5''' || CMT5 || {{OMIM2|600361}} || ? || 4q34.3–q35.2 || [[Autosomal dominant]] || Also known as '''CMT with pyramidal features'''; onset in 2nd decade of life with [[distal]] muscle wasting, particularly in legs
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| − | |-
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| − | | '''CMT6''' || CMT6 || {{OMIM2|601152}} || ''[[MFN2]]'' || 1p36.22 || [[Autosomal dominant]] || Characterised by [[optic atrophy]], hence known also as '''CMT with optic atrophy'''
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| − | |-
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| − | | rowspan="5" | '''CMTDI''' || CMTDIA || {{OMIM2|606483}} || ? || 10q24.1–q25.1 || [[Autosomal dominant]] ||
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| − | |-
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| − | | CMTDIB || {{OMIM2|606482}} || ''[[DNM2]]'' || 19p13.2 || [[Autosomal dominant]] || Also classified as subtype CMT2M
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| − | |-
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| − | | CMTDIC || {{OMIM2|608323}} || ''[[YARS]]'' || 1p35.1 || [[Autosomal dominant]] ||
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| − | |-
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| − | | CMTDID || {{OMIM2|607791}} || ''[[MPZ]]'' || 1q23.3 || [[Autosomal dominant]] ||
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| − | |-
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| − | | CMTDIE || {{OMIM2|614455}} || ''[[INF2]]'' || 14q32.33 || [[Autosomal dominant]] ||
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| − | |-
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| − | | rowspan="2" | '''CMTRI''' || CMTRIA || {{OMIM2|608340}} || ''[[GDAP1]]'' || 8q21.11 || [[Autosomal recessive]] || Allelic with subtype CMT4A
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| − | |-
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| − | | CMTRIB || {{OMIM2|613641}} || ''[[KARS (gene)|KARS]]'' || 16q23.1 || [[Autosomal recessive]] ||
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| − | |-
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| − | | rowspan="5" | '''CMTX''' || CMTX1 || {{OMIM2|302800}} || ''[[GJB1]]'' || Xq13.1 || [[X-linked dominant]] || Responsible for approximately 90% of CMTX patients; some studies put this number significantly higher.<ref>{{cite journal |pages=38–42 |doi=10.1159/000117403 |title=New Mutations in the X-Linked Form of Charcot-Marie-Tooth Disease |year=1997 |last1=Latour |first1=Philippe |last2=Fabreguette |first2=Anne |last3=Ressot |first3=Catherine |last4=Blanquet-Grossard |first4=FranÇOise |last5=Antoine |first5=Jean-Christophe |last6=Calvas |first6=Patrick |last7=Chapon |first7=FranÇOise |last8=Corbillon |first8=Emmanuel |last9=Ollagnor |first9=Elisabeth |journal=European Neurology |volume=37 |pmid=9018031 |issue=1}}</ref><ref>{{cite book |first1=Charles K. |last1=Abrams |first2=John E. |last2=Rash |chapter=Connexins in the Nervous System |chapterurl=http://www.springerlink.com/content/978-1-59745-489-6#section=129548&page=1&locus=0 |editor1-last=Harris |editor1-first=Andrew |editor2-last=Locke |editor2-first=Darren |title=Connexins |publisher=Springer |year=2009 |location=New York |pages=323–57 |url=http://www.springer.com/978-1-934115-46-6 |doi=10.1007/978-1-59745-489-6_15 |isbn=978-1-934115-46-6}}</ref>
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| − | | CMTX2 || {{OMIM2|302801}} || ''[[CMTX2]]'' || Xq22.2 || [[X-linked recessive]] ||
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| − | |-
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| − | | CMTX3 || {{OMIM2|302802}} || ''[[CMTX3]]'' || Xq26 || [[X-linked recessive]] ||
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| − | |-
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| − | | CMTX4 || {{OMIM2|310490}} || ''[[NAMSD]]'' || Xq24–q26.1 || [[X-linked recessive]] || Also known as '''Cowchock syndrome'''
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| − | | CMTX5 || {{OMIM2|311070}} || ''[[PRPS1]]'' || Xq22.3 || [[X-linked recessive]] || Also known as '''Rosenberg–Chutorian syndrome'''; signs include [[optic atrophy]], [[polyneuropathy]] and [[deafness]]
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| − | |-
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| − | ! Type
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| − | ! Subtype
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| − | ! [[OMIM]]
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| − | ! [[Gene]]
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| − | ! [[Locus (genetics)|Locus]]
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| − | ! [[Heredity|Inheritance]]
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| − | ! Notes
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| − | |}
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| − | It has to be kept in mind that sometimes a particular patient diagnosed with CMT can exhibit a combination of any of the above gene mutations; thus, in these cases precise classification can be a little arbitrary.
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| | [[Kategori:Dropfod]] | | [[Kategori:Dropfod]] |
