Boucher-Neuhäuser syndrome
| Boucher-Neuhäuser syndrome | |
|---|---|
| Other names | Chorioretinal dystrophy, spinocerebellar ataxia and hypogonadotropic hypogonadism, Ataxia-hypogonadism-choroidal dystrophy syndrome.[1] |
 | |
| Specialty | Medical genetics |
| Symptoms | Cerebellar ataxia, hypogonadism, and choroidal dystrophy |
| Usual onset | Late childhood-adolescence-early adulthood |
| Duration | Lifelong |
| Causes | Genetic mutation |
| Prevention | None |
| Prognosis | Medium |
| Frequency | very 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
[edit]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
[edit]This disorder is caused by autosomal recessive mutations in the PNPLA6 gene, in chromosome 19.[6]
Diagnosis
[edit]![[icon]](/wiki/File:Wiki_letter_w_cropped.svg){kind=small} | This section is empty. You can help by adding to it. (October 2024) |
Epidemiology
[edit]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][6][15]
References
[edit]- ^ "Ataxia - hypogonadism - choroidal dystrophy".
- ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Ataxia hypogonadism choroidal dystrophy syndrome". www.orpha.net. Retrieved 2022-06-08.
{{cite web}}: CS1 maint: numeric names: authors list (link) - ^ "Ataxia-hypogonadism-choroidal dystrophy syndrome - NIH Genetic Testing Registry (GTR) - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2022-06-08.
- ^ "Ataxia - hypogonadism - choroidal dystrophy - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2022-06-08.
- ^ "Boucher-Neuhäuser syndrome: MedlinePlus Genetics". medlineplus.gov. Retrieved 2022-06-08.
- ^ a b Synofzik, Matthis; Gonzalez, Michael A.; Lourenco, Charles Marques; Coutelier, Marie; Haack, Tobias B.; Rebelo, Adriana; Hannequin, Didier; Strom, Tim M.; Prokisch, Holger; Kernstock, Christoph; Durr, Alexandra (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. PMC 3891450. PMID 24355708.
- ^ "OMIM Entry - # 215470 - BOUCHER-NEUHAUSER SYNDROME; BNHS". omim.org. Retrieved 2022-06-08.
- ^ 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. S2CID 27082154.
- ^ 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.
- ^ 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.
- ^ 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. PMC 1032421. PMID 2494301.
- ^ 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. S2CID 28642170.
- ^ 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.
- ^ 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. PMC 1051065. PMID 9321767.
- ^ Topaloglu, A. Kemal; Lomniczi, Alejandro; Kretzschmar, Doris; Dissen, Gregory A.; Kotan, L. Damla; McArdle, Craig A.; Koc, A. Filiz; Hamel, Ben C.; Guclu, Metin; Papatya, Esra D.; Eren, Erdal (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. PMC 5393493. PMID 25033069.