Alpers' disease
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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,
Treatment
Medical Therapy There is no treatment for Alpers disease; the mainstay of therapy is supportive care.
Surgery
Surgical intervention is not recommended for the management of Alpers disease.
Primary Prevention There are no established measures for the primary prevention of Alpers disease.
Secondary Prevention There are no established measures for the secondary prevention of Alpers disease.
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.
References
"Alpers' Disease Information Page". (Website). National Institute of Neurological Disorders and Stroke, U.S. National Institutes of Health.