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Yang, C. Boucher-Neuhäuser Syndrome. Encyclopedia. Available online: https://encyclopedia.pub/entry/5007 (accessed on 22 September 2026).
Yang C. Boucher-Neuhäuser Syndrome. Encyclopedia. Available at: https://encyclopedia.pub/entry/5007. Accessed September 22, 2026.
Yang, Catherine. "Boucher-Neuhäuser Syndrome" Encyclopedia, https://encyclopedia.pub/entry/5007 (accessed September 22, 2026).
Yang, C. (2020, December 24). Boucher-Neuhäuser Syndrome. In Encyclopedia. https://encyclopedia.pub/entry/5007
Yang, Catherine. "Boucher-Neuhäuser Syndrome." Encyclopedia. Web. 24 December, 2020.
Boucher-Neuhäuser Syndrome
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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/boucher-neuhauser-syndrome

Boucher-Neuhäuser syndrome is a rare disorder that affects movement, vision, and sexual development. It is part of a continuous spectrum of neurological conditions, known as PNPLA6-related disorders, that share a genetic cause and have a combination of overlapping features. Boucher-Neuhäuser syndrome is characterized by three specific features: ataxia, hypogonadotropic hypogonadism, and chorioretinal dystrophy.

genetic conditions

References

  1. Deik A, Johannes B, Rucker JC, Sánchez E, Brodie SE, Deegan E, Landy K,Kajiwara Y, Scelsa S, Saunders-Pullman R, Paisán-Ruiz C. Compound heterozygousPNPLA6 mutations cause Boucher-Neuhäuser syndrome with late-onset ataxia. JNeurol. 2014 Dec;261(12):2411-23. doi: 10.1007/s00415-014-7516-3.
  2. Sogorb MA, Pamies D, Estevan C, Estévez J, Vilanova E. Roles of NTE proteinand encoding gene in development and neurodevelopmental toxicity. Chem BiolInteract. 2016 Nov 25;259(Pt B):352-357. doi: 10.1016/j.cbi.2016.07.030.
  3. Synofzik M, Gonzalez MA, Lourenco CM, Coutelier M, Haack TB, Rebelo A,Hannequin D, Strom TM, Prokisch H, Kernstock C, Durr A, Schöls L, Lima-MartínezMM, Farooq A, Schüle R, Stevanin G, Marques W Jr, Züchner S. PNPLA6 mutationscause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broadneurodegenerative spectrum. Brain. 2014 Jan;137(Pt 1):69-77. doi:10.1093/brain/awt326.
  4. Synofzik M, Hufnagel RB, Züchner S. PNPLA6-Related Disorders. 2014 Oct 9[updated 2015 Jun 11]. 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/NBK247161/
  5. Tarnutzer AA, Gerth-Kahlert C, Timmann D, Chang DI, Harmuth F, Bauer P,Straumann D, Synofzik M. Boucher-Neuhäuser syndrome: cerebellar degeneration,chorioretinal dystrophy and hypogonadotropic hypogonadism: two novel cases and a review of 40 cases from the literature. J Neurol. 2015 Jan;262(1):194-202. doi:10.1007/s00415-014-7555-9.
  6. Topaloglu AK, Lomniczi A, Kretzschmar D, Dissen GA, Kotan LD, McArdle CA, Koc AF, Hamel BC, Guclu M, Papatya ED, Eren E, Mengen E, Gurbuz F, Cook M, CastellanoJM, Kekil MB, Mungan NO, Yuksel B, Ojeda SR. Loss-of-function mutations in PNPLA6encoding neuropathy target esterase underlie pubertal failure and neurologicaldeficits in Gordon Holmes syndrome. J Clin Endocrinol Metab. 2014Oct;99(10):E2067-75. doi: 10.1210/jc.2014-1836.
  7. Vose SC, Fujioka K, Gulevich AG, Lin AY, Holland NT, Casida JE. Cellularfunction of neuropathy target esterase in lysophosphatidylcholine action. ToxicolAppl Pharmacol. 2008 Nov 1;232(3):376-83. doi: 10.1016/j.taap.2008.07.015.
  8. Zaccheo O, Dinsdale D, Meacock PA, Glynn P. Neuropathy target esterase and itsyeast homologue degrade phosphatidylcholine to glycerophosphocholine in livingcells. J Biol Chem. 2004 Jun 4;279(23):24024-33.
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Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Catherine Yang
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Update Date: 24 Dec 2020
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