Medicine:Boucher-Neuhäuser syndrome

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Boucher-Neuhäuser syndrome
Other namesChorioretinal dystrophy, spinocerebellar ataxia and hypogonadotropic hypogonadism, Ataxia-hypogonadism-choroidal dystrophy syndrome.[1]
Autorecessive.svg
SpecialtyMedical genetics
SymptomsCerebellar ataxia, hypogonadism, and choroidal dystrophy
Usual onsetLate childhood-adolescence-early adulthood
DurationLifelong
CausesGenetic mutation
PreventionNone
PrognosisMedium
Frequencyvery rare, only 22 cases have been described in medical literature
Deaths-

Boucher-Neuhäuser syndrome is a very rare genetic disorder which is characterized by a triad consisting of cerebellar ataxia, chorioretinal dystrophy, and hypogonadism.[2][3]

Signs and symptoms

The symptoms have already been mentioned above, this section will be used to denote the onset of these symptoms: The cerebellar ataxia associated with this syndrome often appears in adolescence-early adulthood, chorioretinal dystrophy usually appears between the age of 50 and 60 years old, and the hypogonadotropic hypogonadism appears in late childhood-adolescence.[4][5]

Causes

This disorder is caused by autosomal recessive mutations in the PNPLA6 gene, in chromosome 19.[6]

Epidemiology

Only 22 cases have been described in medical literature (excluding the cases which were not first reported to be part of the syndrome, which were approximately 19 cases).[7][8][9][10][11][12][13][14][15][16]

References

  1. ↑ "Ataxia - hypogonadism - choroidal dystrophy". https://rarediseases.org/gard-rare-disease/ataxia-hypogonadism-choroidal-dystrophy/. 
  2. ↑ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Ataxia hypogonadism choroidal dystrophy syndrome" (in en). https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=1180. 
  3. ↑ "Ataxia-hypogonadism-choroidal dystrophy syndrome - NIH Genetic Testing Registry (GTR) - NCBI". https://www.ncbi.nlm.nih.gov/gtr/conditions/C1859093/. 
  4. ↑ "Ataxia - hypogonadism - choroidal dystrophy - About the Disease - Genetic and Rare Diseases Information Center" (in en). https://rarediseases.info.nih.gov/diseases/944/ataxia-hypogonadism-choroidal-dystrophy. 
  5. ↑ "Boucher-Neuhäuser syndrome: MedlinePlus Genetics" (in en). https://medlineplus.gov/genetics/condition/boucher-neuhauser-syndrome/. 
  6. ↑ Synofzik, Matthis; Gonzalez, Michael A.; Lourenco, Charles Marques; Coutelier, Marie; Haack, Tobias B.; Rebelo, Adriana; Hannequin, Didier; Strom, Tim M. et al. (January 2014). "PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum". Brain: A Journal of Neurology 137 (Pt 1): 69–77. doi:10.1093/brain/awt326. ISSN 1460-2156. PMID 24355708. 
  7. ↑ "OMIM Entry - # 215470 - BOUCHER-NEUHAUSER SYNDROME; BNHS" (in en-us). https://omim.org/entry/215470#8. 
  8. ↑ Neuhäuser, G.; Opitz, J. M. (May 1975). "Autosomal recessive syndrome of cerebellar ataxia and hypogonadotropic hypogonadism". Clinical Genetics 7 (5): 426–434. doi:10.1111/j.1399-0004.1975.tb00353.x. ISSN 0009-9163. PMID 1149314. https://pubmed.ncbi.nlm.nih.gov/1149314/. 
  9. ↑ Limber, E. R.; Bresnick, G. H.; Lebovitz, R. M.; Appen, R. E.; Gilbert-Barness, E. F.; Pauli, R. M. (July 1989). "Spinocerebellar ataxia, hypogonadotropic hypogonadism, and choroidal dystrophy (Boucher-Neuhäuser syndrome)". American Journal of Medical Genetics 33 (3): 409–414. doi:10.1002/ajmg.1320330325. ISSN 0148-7299. PMID 2801777. https://pubmed.ncbi.nlm.nih.gov/2801777/. 
  10. ↑ Boucher, B. J.; Gibberd, F. B. (1969). "Familial ataxia, hypogonadism and retinal degeneration". Acta Neurologica Scandinavica 45 (4): 507–510. doi:10.1111/j.1600-0404.1969.tb01261.x. ISSN 0001-6314. PMID 5806782. https://pubmed.ncbi.nlm.nih.gov/5806782/. 
  11. ↑ Fok, A. C.; Wong, M. C.; Cheah, J. S. (March 1989). "Syndrome of cerebellar ataxia and hypogonadotrophic hypogonadism: evidence for pituitary gonadotrophin deficiency". Journal of Neurology, Neurosurgery, and Psychiatry 52 (3): 407–409. doi:10.1136/jnnp.52.3.407. ISSN 0022-3050. PMID 2494301. 
  12. ↑ Baroncini, A.; Franco, N.; Forabosco, A. (April 1991). "A new family with chorioretinal dystrophy, spinocerebellar ataxia and hypogonadotropic hypogonadism (Boucher-Neuhäuser syndrome)". Clinical Genetics 39 (4): 274–277. doi:10.1111/j.1399-0004.1991.tb03025.x. ISSN 0009-9163. PMID 1906382. https://pubmed.ncbi.nlm.nih.gov/1906382/. 
  13. ↑ Salvador, F.; García-Arumí, J.; Corcóstegui, B.; Minoves, T.; Tarrus, F. (August 1995). "Ophthalmologic findings in a patient with cerebellar ataxia, hypogonadotropic hypogonadism, and chorioretinal dystrophy". American Journal of Ophthalmology 120 (2): 241–244. doi:10.1016/s0002-9394(14)72612-1. ISSN 0002-9394. PMID 7639308. https://pubmed.ncbi.nlm.nih.gov/7639308/. 
  14. ↑ Rump, P.; Hamel, B. C.; Pinckers, A. J.; van Dop, P. A. (September 1997). "Two sibs with chorioretinal dystrophy, hypogonadotrophic hypogonadism, and cerebellar ataxia: Boucher-Neuhäuser syndrome". Journal of Medical Genetics 34 (9): 767–771. doi:10.1136/jmg.34.9.767. ISSN 0022-2593. PMID 9321767. 
  15. ↑ Synofzik, Matthis; Gonzalez, Michael A.; Lourenco, Charles Marques; Coutelier, Marie; Haack, Tobias B.; Rebelo, Adriana; Hannequin, Didier; Strom, Tim M. et al. (January 2014). "PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum". Brain: A Journal of Neurology 137 (Pt 1): 69–77. doi:10.1093/brain/awt326. ISSN 1460-2156. PMID 24355708. 
  16. ↑ Topaloglu, A. Kemal; Lomniczi, Alejandro; Kretzschmar, Doris; Dissen, Gregory A.; Kotan, L. Damla; McArdle, Craig A.; Koc, A. Filiz; Hamel, Ben C. et al. (October 2014). "Loss-of-function mutations in PNPLA6 encoding neuropathy target esterase underlie pubertal failure and neurological deficits in Gordon Holmes syndrome". The Journal of Clinical Endocrinology and Metabolism 99 (10): E2067–2075. doi:10.1210/jc.2014-1836. ISSN 1945-7197. PMID 25033069. 



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