Chorioretinal dystrophy, hypogonadotropic hypogonadism, and cerebellar ataxia: Boucher-Neuhauser syndrome due to a homozygous (c.3524C>G (p.Ser1175Cys)) variant in PNPLA6 gene.
Doğan M, Eröz R, Öztürk E.
Ophthalmic Genet. 2021 Jun;42(3):276-282. doi: 10.1080/13816810.2021.1894461. Epub 2021 Mar 2.
Two case reports of a novel missense mutation in the PNPLA6 gene in two siblings with chorioretinal dystrophy, hypogonadotropic hypogonadism, and cerebellar ataxia.
Liampas A, Nicolaou P, Votsi C, Georghiou A, Christodoulou K, Tanteles GA, Pantzaris M.
Mol Biol Rep. 2024 Apr 29;51(1):590. doi: 10.1007/s11033-024-09515-4.
Boucher-Neuhäuser syndrome.
Lima-Martínez MM, Gil V, Zerpa J, Rivas P, Gómez-Pérez R, Osuna J.
Endocrinol Nutr. 2013 Apr;60(4):218-20. doi: 10.1016/j.endonu.2012.04.004. Epub 2012 Jun 15.
Ataxia meets chorioretinal dystrophy and hypogonadism: Boucher-Neuhäuser syndrome due to PNPLA6 mutations.
Synofzik M, Kernstock C, Haack TB, Schöls L.
J Neurol Neurosurg Psychiatry. 2015 May;86(5):580-1. doi: 10.1136/jnnp-2014-307793. Epub 2014 Apr 30.
Boucher-Neuhäuser syndrome: cerebellar degeneration, chorioretinal dystrophy and hypogonadotropic hypogonadism: two novel cases and a review of 40 cases from the literature.
Tarnutzer AA, Gerth-Kahlert C, Timmann D, Chang DI, Harmuth F, Bauer P, Straumann D, Synofzik M.
J Neurol. 2015 Jan;262(1):194-202. doi: 10.1007/s00415-014-7555-9. Epub 2014 Oct 31.
A new family with chorioretinal dystrophy, spinocerebellar ataxia and hypogonadotropic hypogonadism (Boucher-Neuhauser syndrome).
Baroncini A, Franco N, Forabosco A.
Clin Genet. 1991 Apr;39(4):274-7. doi: 10.1111/j.1399-0004.1991.tb03025.x.
A de novo hexokinase 1 (HK1) variant presenting as Boucher-Neuhäuser syndrome.
Peretz RH, Zein WM, Hufnagel RB, Ku C, Godfrey R, Wolfe L, Adams D, Gahl W, Toro C.
Am J Med Genet A. 2023 Feb;191(2):624-629. doi: 10.1002/ajmg.a.63045. Epub 2022 Dec 21.
Neuropsychological assessment of Boucher-Neuhäuser syndrome: A case report.
Merolla S, Borella M, Bassi F, Canonico F, Santilli IM, Grassi MP.
Clin Neuropsychol. 2022 Nov;36(8):2370-2378. doi: 10.1080/13854046.2021.1965219. Epub 2021 Aug 29.
Severe chorioretinal atrophy in Boucher-Neuhauser syndrome.
Donaldson L, Tarnopolsky MA, Martin JA, Rodriguez AR.
Can J Ophthalmol. 2020 Feb;55(1):e26-e28. doi: 10.1016/j.jcjo.2019.07.001. Epub 2019 Aug 9.
PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum.
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-Martínez MM, Farooq A, Schüle R, Stevanin G, Marques W Jr, Züchner S.
Brain. 2014 Jan;137(Pt 1):69-77. doi: 10.1093/brain/awt326. Epub 2013 Dec 19.
