Ataxia Neuropathy Spectrum

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Yang, C. Ataxia Neuropathy Spectrum. Encyclopedia. Available online: https://encyclopedia.pub/entry/4816 (accessed on 25 September 2026).

Yang C. Ataxia Neuropathy Spectrum. Encyclopedia. Available at: https://encyclopedia.pub/entry/4816. Accessed September 25, 2026.

Yang, Catherine. "Ataxia Neuropathy Spectrum" Encyclopedia, https://encyclopedia.pub/entry/4816 (accessed September 25, 2026).

Yang, C. (2020, December 24). Ataxia Neuropathy Spectrum. In Encyclopedia. https://encyclopedia.pub/entry/4816

Yang, Catherine. "Ataxia Neuropathy Spectrum." Encyclopedia. Web. 24 December, 2020.

Ataxia Neuropathy Spectrum

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/ataxia-neuropathy-spectrum

Ataxia neuropathy spectrum is part of a group of conditions called the POLG-related disorders. The conditions in this group feature a range of similar signs and symptoms involving muscle-, nerve-, and brain-related functions. Ataxia neuropathy spectrum now includes the conditions previously called mitochondrial recessive ataxia syndrome (MIRAS) and sensory ataxia neuropathy dysarthria and ophthalmoplegia (SANDO).

genetic conditions

References

Chan SS, Longley MJ, Copeland WC. The common A467T mutation in the humanmitochondrial DNA polymerase (POLG) compromises catalytic efficiency andinteraction with the accessory subunit. J Biol Chem. 2005 Sep 9;280(36):31341-6.
Cohen BH, Chinnery PF, Copeland WC. POLG-Related Disorders. 2010 Mar 16[updated 2018 Mar 1]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH,Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): Universityof Washington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK26471/
Hudson G, Deschauer M, Busse K, Zierz S, Chinnery PF. Sensory ataxicneuropathy due to a novel C10Orf2 mutation with probable germline mosaicism.Neurology. 2005 Jan 25;64(2):371-3.
Milone M, Massie R. Polymerase gamma 1 mutations: clinical correlations.Neurologist. 2010 Mar;16(2):84-91. doi: 10.1097/NRL.0b013e3181c78a89. Review.
Moraes CT, Shanske S, Tritschler HJ, Aprille JR, Andreetta F, Bonilla E, SchonEA, DiMauro S. mtDNA depletion with variable tissue expression: a novel geneticabnormality in mitochondrial diseases. Am J Hum Genet. 1991 Mar;48(3):492-501.
Rocher C, Taanman JW, Pierron D, Faustin B, Benard G, Rossignol R, Malgat M,Pedespan L, Letellier T. Influence of mitochondrial DNA level on cellular energy metabolism: implications for mitochondrial diseases. J Bioenerg Biomembr. 2008Apr;40(2):59-67. doi: 10.1007/s10863-008-9130-5.
Stumpf JD, Copeland WC. Mitochondrial DNA replication and disease: insightsfrom DNA polymerase γ mutations. Cell Mol Life Sci. 2011 Jan;68(2):219-33. doi:10.1007/s00018-010-0530-4.
Van Goethem G, Martin JJ, Dermaut B, Löfgren A, Wibail A, Ververken D, Tack P,Dehaene I, Van Zandijcke M, Moonen M, Ceuterick C, De Jonghe P, Van BroeckhovenC. Recessive POLG mutations presenting with sensory and ataxic neuropathy incompound heterozygote patients with progressive external ophthalmoplegia.Neuromuscul Disord. 2003 Feb;13(2):133-42.

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Subjects: Genetics & Heredity

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Update Date: 24 Dec 2020

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