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Quoted phrase not found in phrase index: "Cerebellar ataxia-hypogonadism syndrome"
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Cerebellar ataxia associated with hypogonadotropic hypogonadism and chorioretinopathy: a poorly recognized association.
Erdem E, Kiratli H, Erbaş T, Varli K, Eldem B, Akalin S, Tan E, Topaloglu H, Gedikoglu G. Erdem E, et al. Clin Neurol Neurosurg. 1994 Feb;96(1):86-91. doi: 10.1016/0303-8467(94)90036-1. Clin Neurol Neurosurg. 1994. PMID: 8187389 Review.
We report a male with cerebellar ataxia, hypogonadism and chorioretinopathy. The age of onset was 12. ...The ocular disorder involved the choriocapillaris and the retina. The association may represent a separate syndrome, seldom recognized in the past. …
We report a male with cerebellar ataxia, hypogonadism and chorioretinopathy. The age of onset was 12. ...The ocular dis …
A novel PNPLA6 mutation in a Turkish family with intractable Holmes tremor and spastic ataxia.
Emekli AS, Samanci B, Şimşir G, Hanagasi HA, Gürvit H, Bilgiç B, Başak AN. Emekli AS, et al. Neurol Sci. 2021 Apr;42(4):1535-1539. doi: 10.1007/s10072-020-04869-6. Epub 2020 Nov 18. Neurol Sci. 2021. PMID: 33210227
Autosomal recessive cerebellar ataxias are a group of rare neurological diseases with a genetic origin. Recently, the mutations in the PNPLA6 gene were suggested to lead to ataxia and also to other specific syndromes such as Boucher-Neuhauser (ataxia, hypo …
Autosomal recessive cerebellar ataxias are a group of rare neurological diseases with a genetic origin. Recently, the mutations in th …
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. Liampas A, et al. Mol Biol Rep. 2024 Apr 29;51(1):590. doi: 10.1007/s11033-024-09515-4. Mol Biol Rep. 2024. PMID: 38683245
BACKGROUND: Boucher Neuhauser Syndrome (BNS) is a rare disease with autosomal recessive inheritance defined by the classical triad; early-onset ataxia, hypogonadism and chorioretinal dystrophy. ...The proband was referred to our department by a private Neurol …
BACKGROUND: Boucher Neuhauser Syndrome (BNS) is a rare disease with autosomal recessive inheritance defined by the classical triad; e …
Boucher Neuhauser Syndrome - A rare cause of inherited hypogonadotropic hypogonadism. A case of two adult siblings with two novel mutations in PNPLA6.
Langdahl JH, Frederiksen AL, Nguyen N, Brusgaard K, Juhl CB. Langdahl JH, et al. Eur J Med Genet. 2017 Feb;60(2):105-109. doi: 10.1016/j.ejmg.2016.11.003. Epub 2016 Nov 16. Eur J Med Genet. 2017. PMID: 27866050
Boucher Neuhauser Syndrome (BNS) is a rare clinical syndrome with autosomal recessive inheritance defined by early-onset ataxia, hypogonadism and chorioretinal dystrophy. ...The older sister of the proband also displayed the triad of ataxia, HH and cho …
Boucher Neuhauser Syndrome (BNS) is a rare clinical syndrome with autosomal recessive inheritance defined by early-onset at …