Alpers' disease: Difference between revisions
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'''Alpers' disease''', also called '''Alpers' syndrome''',<ref name="naude2004">Naudé, J te Water, C M Verity, R G Will, G Devereux, and L Stellitano. (2004.) [http://jnnp.bmj.com/cgi/content/abstract/75/6/910 "Is variant Creutzfeldt-Jakob disease in young children misdiagnosed as Alpers’ syndrome? An analysis of a national surveillance study"] ''Journal of Neurology Neurosurgery and Psychiatry'', 2004;75:910-913. (Fee for full text.) Retrieved on [[2007]]-[[09-27]].</ref> '''progressive neuronal degeneration of childhood''',<ref name="naude2004" /> '''progressive sclerosing poliodystrophy''', and '''progressive infantile poliodystrophy''', is a progressive degenerative disease of the [[central nervous system]] that occurs in infants and children. It is an autosomal recessive disorder that is sometimes seen in siblings. | '''Alpers' disease''', also called '''Alpers' syndrome''',<ref name="naude2004">Naudé, J te Water, C M Verity, R G Will, G Devereux, and L Stellitano. (2004.) [http://jnnp.bmj.com/cgi/content/abstract/75/6/910 "Is variant Creutzfeldt-Jakob disease in young children misdiagnosed as Alpers’ syndrome? An analysis of a national surveillance study"] ''Journal of Neurology Neurosurgery and Psychiatry'', 2004;75:910-913. (Fee for full text.) Retrieved on [[2007]]-[[09-27]].</ref> '''progressive neuronal degeneration of childhood''',<ref name="naude2004" /> '''progressive sclerosing poliodystrophy''', and '''progressive infantile poliodystrophy''', is a progressive degenerative disease of the [[central nervous system]] that occurs in infants and children. It is an autosomal recessive disorder that is sometimes seen in siblings. | ||
==Classification== | |||
*There is no established system for the [[classification]] of Alpers disease. | |||
==Pathophysiology== | ==Pathophysiology== | ||
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**Myoclonus epilepsy myopathy sensory ataxia (MEMSA) | **Myoclonus epilepsy myopathy sensory ataxia (MEMSA) | ||
**[[Progressive external ophthalmoplegia]]<ref name="pmid18546365">{{cite journal| author=Wong LJ, Naviaux RK, Brunetti-Pierri N, Zhang Q, Schmitt ES, Truong C | display-authors=etal| title=Molecular and clinical genetics of mitochondrial diseases due to POLG mutations. | journal=Hum Mutat | year= 2008 | volume= 29 | issue= 9 | pages= E150-72 | pmid=18546365 | doi=10.1002/humu.20824 | pmc=2891192 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=18546365 }} </ref> | **[[Progressive external ophthalmoplegia]]<ref name="pmid18546365">{{cite journal| author=Wong LJ, Naviaux RK, Brunetti-Pierri N, Zhang Q, Schmitt ES, Truong C | display-authors=etal| title=Molecular and clinical genetics of mitochondrial diseases due to POLG mutations. | journal=Hum Mutat | year= 2008 | volume= 29 | issue= 9 | pages= E150-72 | pmid=18546365 | doi=10.1002/humu.20824 | pmc=2891192 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=18546365 }} </ref> | ||
==Epidemiology and Demographics== | |||
*The [[prevalence]] of Alpers disease is approximately 1 per 100,000 individuals worldwide. | |||
*Alpers disease affects men and women equally. | |||
*Higher [[carrier]] frequency is seen in the Northern European population.<ref name="pmid23419467]">{{cite journal| author=Saneto RP, Cohen BH, Copeland WC, Naviaux RK| title=Alpers-Huttenlocher syndrome. | journal=Pediatr Neurol | year= 2013 | volume= 48 | issue= 3 | pages= 167-78 | pmid=23419467] | doi=10.1016/j.pediatrneurol.2012.09.014 | pmc=3578656 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23419467 }} </ref> | |||
==Presentation== | ==Presentation== |
Revision as of 18:33, 26 August 2020
Alpers' disease | |
ICD-10 | G31.8 |
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ICD-9 | 330.8 |
OMIM | 203700 |
DiseasesDB | 29298 |
MeSH | D002549 |
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [2]
Overview
Alpers' disease, also called Alpers' syndrome,[1] progressive neuronal degeneration of childhood,[1] progressive sclerosing poliodystrophy, and progressive infantile poliodystrophy, is a progressive degenerative disease of the central nervous system that occurs in infants and children. It is an autosomal recessive disorder that is sometimes seen in siblings.
Classification
- There is no established system for the classification of Alpers disease.
Pathophysiology
- Alpers disease is inherited in an autosomal recessive pattern.
- Mutation in POLG1 gene reduces polymerase gamma functionality, resulting in defective mitochondrial DNA.[2]
- Brain, liver and skeletal muscles are most involved due to high number of mitochondria.[3]
Causes
- Alpers disease is a mitochondrial disorder caused by a mutation in the POLG1 gene.[4]
Differentiating Alpers disease from other Diseases
- Alpers disease must be differentiated from other mitochondrial diseases caused POLG gene mutation:
- Childhood Myocerbrohepatopathy Spectrum Disorder[5]
- Myoclonus epilepsy myopathy sensory ataxia (MEMSA)
- Progressive external ophthalmoplegia[6]
Epidemiology and Demographics
- The prevalence of Alpers disease is approximately 1 per 100,000 individuals worldwide.
- Alpers disease affects men and women equally.
- Higher carrier frequency is seen in the Northern European population.[3]
Presentation
First signs of the disease, which include intractable seizures and failure to meet meaningful developmental milestones, usually occur in infancy, after the first year of life, but sometimes as late as the fifth year. Primary symptoms of the disease are developmental delay, progressive mental retardation, hypotonia (low muscle tone), spasticity (stiffness of the limbs) possibly leading to quadriplegia, and progressive dementia. Seizures may include epilepsia partialis continua, a type of seizure that consists of repeated myoclonic (muscle) jerks. Optic atrophy may also occur, often leading to blindness. Deafness may also occur. And, although physical signs of chronic liver dysfunction may not be present, many patients suffer liver impairment leading to liver failure. While some researchers believe that Alpers' disease is caused by an underlying metabolic defect, no consistent defect has been identified. Pathologically, there is status spongiosus of the cerebral grey matter.
Treatment
There is no cure for Alpers' disease and, currently, no way to slow its progression. Treatment is symptomatic and supportive. Anticonvulsants may be used to treat the seizures. However, caution should be used when selecting valproate as therapy since it may increase the risk of liver failure. Physical therapy may help to relieve spasticity and maintain or increase muscle tone.
Prognosis
The prognosis for individuals with Alpers' disease is poor. Those with the disease usually die within their first decade of life. Liver failure is usually the cause of death, although cardiorespiratory failure may also occur.
Eponym
It is named for Bernard Jacob Alpers.[7][8][9]
Notes
- ↑ 1.0 1.1 Naudé, J te Water, C M Verity, R G Will, G Devereux, and L Stellitano. (2004.) "Is variant Creutzfeldt-Jakob disease in young children misdiagnosed as Alpers’ syndrome? An analysis of a national surveillance study" Journal of Neurology Neurosurgery and Psychiatry, 2004;75:910-913. (Fee for full text.) Retrieved on 2007-09-27.
- ↑ Copeland WC (2012). "Defects in mitochondrial DNA replication and human disease". Crit Rev Biochem Mol Biol. 47 (1): 64–74. doi:10.3109/10409238.2011.632763. PMC 3244805. PMID 22176657.
- ↑ 3.0 3.1 Saneto RP, Cohen BH, Copeland WC, Naviaux RK (2013). "Alpers-Huttenlocher syndrome". Pediatr Neurol. 48 (3): 167–78. doi:10.1016/j.pediatrneurol.2012.09.014. PMC 3578656. PMID [1] 23419467]] Check
|pmid=
value (help). - ↑ Qian Y, Ziehr JL, Johnson KA (2015). "Alpers disease mutations in human DNA polymerase gamma cause catalytic defects in mitochondrial DNA replication by distinct mechanisms". Front Genet. 6: 135. doi:10.3389/fgene.2015.00135. PMC 4391263. PMID 25914719.
- ↑ Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K; et al. (1993). "GeneReviews®". PMID 20301791.
- ↑ Wong LJ, Naviaux RK, Brunetti-Pierri N, Zhang Q, Schmitt ES, Truong C; et al. (2008). "Molecular and clinical genetics of mitochondrial diseases due to POLG mutations". Hum Mutat. 29 (9): E150–72. doi:10.1002/humu.20824. PMC 2891192. PMID 18546365.
- ↑ Template:WhoNamedIt
- ↑ Template:WhoNamedIt
- ↑ B. J. Alpers. Diffuse progressive degeneration of the grey matter of the cerebrum. Archives of Neurology and Psychiatry, Chicago, 1931, 25: 469-505.
References
"Alpers' Disease Information Page". (Website). National Institute of Neurological Disorders and Stroke, U.S. National Institutes of Health.