SANDO syndrome
The SANDO syndrome is a very rare disease that belongs to the group of mitochondriopathies . It is inherited as an autosomal recessive trait. SANDO is an acronym for the cardinal symptoms of the disease and represents S ensorische a tactical N europathie, D ysarthrie and O phthalmoplegie (or Ophthalmoparese). The syndrome is considered a variant of the chronically progressive external ophthalmoplegia .
root cause
The SANDO syndrome is genetically heterogeneous. Usually mutations in the POLG gene ( polymerase gamma ), less often in the C10orf2 gene ( chromosome 10 open reading frame 2 , also called TWINKLE ) can be detected.
POLG codes for the polymerase gamma and is located on the long arm of chromosome 15 (15q24-q26) in humans. The polymerase gamma plays an important role in the replication of mitochondrial DNA . Mutations in the gene for the polymerase gamma lead to multiple deletions of mitochondrial DNA.
In contrast to the POLG gene, the C10orf2 is a mitochondrial gene that codes for the Twinkle protein . The Twinkle protein also plays a role in the replication of mitochondrial DNA and mutations can lead to multiple deletions of mitochondrial DNA.
Differential diagnosis
To be delimited is u. a. the vitamin E deficiency ataxia .
Medical history
The SANDO syndrome was first described in 1997 in 4 patients. The first authors also suggested the acronym SANDO for the clinical picture.
further reading
- M. Milone, R. Massie: Polymerase gamma 1 mutations: clinical correlations. In: The neurologist. Volume 16, Number 2, March 2010, pp. 84-91, ISSN 1074-7931 . doi: 10.1097 / NRL.0b013e3181c78a89 , PMID 20220442 .
- BH Cohen, PF Chinnery et al .: POLG-Related Disorders . In: RA Pagon, TD Bird TD et al .: GeneReviews [Internet publication]. Seattle: University of Washington, 1993 - March 16, 2010. PMID 20301791 , full text freely available
- J. Finsterer: Inherited mitochondrial neuropathies. In: Journal of the neurological sciences. Volume 304, Number 1-2, May 2011, pp. 9-16, ISSN 1878-5883 . doi: 10.1016 / j.jns.2011.02.012 , PMID 21402391 .
- J. Finsterer: Mitochondrial ataxias. In: The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques. Volume 36, Number 5, September 2009, pp. 543-553, ISSN 0317-1671 , PMID 19831121 , doi: 10.1017 / s0317167100008027 .
Web links
- SANDO syndrome. In: Online Mendelian Inheritance in Man . (english) (english)
- SANDO syndrome. In: Orphanet (Rare Disease Database).
Individual evidence
- ↑ M. Naïmi, S. Bannwarth u. a .: Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay. In: European journal of human genetics Volume 14, Number 8, August 2006, pp. 917-922, ISSN 1018-4813 . doi: 10.1038 / sj.ejhg.5201627 , PMID 16639411 , full text freely accessible
- ↑ POLG. In: Online Mendelian Inheritance in Man . (English), last accessed on March 25, 2019
- ↑ C10ORF2. In: Online Mendelian Inheritance in Man . (English), last accessed on March 25, 2019.
- ↑ R. Fadić, JA Russell u. a .: Sensory ataxic neuropathy as the presenting feature of a novel mitochondrial disease. In: Neurology. Volume 49, Number 1, July 1997, pp. 239-245, ISSN 0028-3878 , PMID 9222196 .
- ^ SANDO syndrome. In: Online Mendelian Inheritance in Man . (English), last accessed on February 22, 2012
