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Revision as of 19:34, 26 August 2020

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [2]; Associate Editor(s)-in-Chief: Zehra Malik, M.B.B.S [3]

Synonyms and keywords: Alpers-Huttenlocher Syndrome, Progressive Infantile Poliodystrophy, Mitochondrial Deoxyribonucleic acid (DNA) depletion syndrome-4A

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]

Risk Factors

There are no established risk factors for Alpers disease.

Screening

There is insufficient evidence to recommend routine screening for Alpers disease.

Natural History, Complications, and Prognosis

Prognosis is generally poor,

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.

Template:Diseases of the nervous system

fi:Alpersin tauti

Template:WS

[naude2004-1] 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.

[pmid22176657-2] 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.

[pmid23419467]-3] 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).

[pmid25914719-4] 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.

[pmid20301791-5] Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K; et al. (1993). "GeneReviews®". PMID 20301791.

[pmid18546365-6] 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.

[7] Template:WhoNamedIt

[8] Template:WhoNamedIt

[9] B. J. Alpers. Diffuse progressive degeneration of the grey matter of the cerebrum. Archives of Neurology and Psychiatry, Chicago, 1931, 25: 469-505.

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+{{SK}} [[Alpers-Huttenlocher Syndrome]], [[Progressive Infantile Poliodystrophy]], [[Mitochondrial Deoxyribonucleic acid (DNA) depletion syndrome-4A]]
 ==Overview==